研究業績

2017年2016年2015年2014年2013年2012年2011年2010年2009年2008年2007年2006年2005年2004年 2003年2002年2001年2000年以前

国際学術誌に掲載された主な論文

2017年

  • Takeshita E, Minami N, Minami K, Suzuki M, Awashima T, Ishiyama A, Komaki H, Nishino I, Sasaki M.
    Duchenne muscular dystrophy in a female with compound heterozygous contiguous exon deletions.
    Neuromuscul Disord. 2017 Apr 3. [Epub ahead of print]

  • Inoue Y, Murakami T, Nakamura T, Morita K, Kaneda D, Nishino I, Hayashi T, Shinoto Y, Hatoko T, Kato T, Yonemitsu S, Muro S, Oki S.
    Syndrome of Inappropriate Antidiuretic Hormone Secretion Associated with Amyotrophic Lateral Sclerosis in a Patient Developing Carbon Dioxide Narcosis.
    Intern Med. 2017;56(7):797-803. Epub 2017 Apr 1

  • Tomioka I, Ishibashi H, Minakawa EN, Motohashi HH, Takayama O, Saito Y, Popiel HA, Puentes S, Owari K, Nakatani T, Nogami N, Yamamoto K, Noguchi S, Yonekawa T, Tanaka Y, Fujita N, Suzuki H, Kikuchi H, Aizawa S, Nagano S, Yamada D, Nishino I, Ichinohe N, Wada K, Kohsaka S, Nagai Y, Seki K.
    Transgenic Monkey Model of the Polyglutamine Diseases Recapitulating Progressive Neurological Symptoms.
    eNeuro. 4(2). eCollection 2017 Mar-Apr.

  • Oguri M, Saito Y, Okazaki T, Matsumura W, Ohno K, Togawa M, Fukuda C, Saito Y, Nishino I, Maegaki Y.
    Surface electromyogram and muscle ultrasonography for detection of muscle fasciculations in pediatric peripheral neuropathy.
    Brain Dev. 2017 Mar 16. [Epub ahead of print]

  • Kadoya M, Ogata K, Suzuki M, Honma Y, Momma K, Yatabe K, Tamura T, Kaida K, Miyata N, Nishino I, Nonaka I, Kawai M.
    A Japanese male with a novel ANO5 mutation with minimal muscle weakness and muscle pain till his late fifties.
    Neuromuscul Disord. 2017 Jan 18. [Epub ahead of print]

  • Liang WC, Tian X, Yuo CY, Chen WZ, Kan TM, Su YN, Nishino I, Wong LC, Jong YJ.
    Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan.
    PLoS One. 2017 Feb 9;12(2):e0170517.

  • Inui T, Anzai M, Takezawa Y, Endo W, Kakisaka Y, Kikuchi A, Onuma A, Kure S, Nishino I, Ohba C, Saitsu H, Matsumoto N, Haginoya K.
    A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome.
    J Hum Genet. 2017 Feb 2. [Epub ahead of print]

  • Tsunoda K, Yamashita T, Motokura E, Takahashi Y, Sato K, Takemoto M, Hishikawa N, Ohta Y, Nishikawa A, Nishino I, Abe K.
    A patient with slowly progressive adult-onset nemaline myopathy and novel compound heterozygous mutations in the nebulin gene.
    J Neurol Sci. 2017 Feb 15;373:254-257.

  • Tanaka T, Suzuki S, Nishino I, Hamaguchi Y, Fujimoto T.
    What is the third serological marker associated with immune-mediated necrotizing myopathy?
    Scand J Rheumatol. 2017 Jan 9:1-2. [Epub ahead of print]

  • Mukai M, Nagata E, Mizuma A, Yamano M, Sugaya K, Nishino I, Goto YI, Takizawa S.
    Adult-onset Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke (MELAS)-like Encephalopathy Diagnosed Based on the Complete Sequencing of Mitochondrial DNA Extracted from Biopsied Muscle without any Myopathic Changes.
    Intern Med. 2017 Jan; 56(1):95-99.

  • Noguchi S, Ogawa M, Malicdan MC, Nonaka I, Nishino I.
    Muscle Weakness and Fibrosis Due to Cell Autonomous and Non-cell Autonomous Events in Collagen VI Deficient Congenital Muscular Dystrophy.
    EBioMedicine. 2017 Feb;15:193-202.

  • Zhu W, Mitsuhashi S, Yonekawa T, Noguchi S, Huei JC, Nalini A, Preethish-Kumar V, Yamamoto M, Murakata K, Mori-Yoshimura M, Kamada S, Yahikozawa H, Karasawa M, Kimura S, Yamashita F, Nishino I.
    Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5'UTR and founder allele.
    J Hum Genet. 2017 Feb;62(2):159-166.

  • Nishikawa A, Mitsuhashi S, Miyata N, Nishino I.
    Targeted massively parallel sequencing and histological assessment of skeletal muscles for the molecular diagnosis of inherited muscle disorders.
    J Med Genet. 2017 Feb;54(2):104-110.

2016年

  • Uruha A, Nishikawa A, Tsuburaya RS, Hamanaka K, Kuwana M, Watanabe Y, Suzuki S, Suzuki N, Nishino I.
    Sarcoplasmic MxA expression: A valuable marker of dermatomyositis.
    Neurology. 2017 Jan 31;88(5):493-500.

  • Miyatake S, Mitsuhashi S, Hayashi YK, Purevjav E, Nishikawa A, Koshimizu E, Suzuki M, Yatabe K, Tanaka Y, Ogata K, Kuru S, Shiina M, Tsurusaki Y, Nakashima M, Mizuguchi T, Miyake N, Saitsu H, Ogata K, Kawai M, Towbin J, Nonaka I, Nishino I, Matsumoto N.
    Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy.
    Am J Hum Genet. 2017 Jan 5;100(1):169-178.

  • Lee JM, Noguchi S.
    Calcium Dyshomeostasis in Tubular Aggregate Myopathy.
    Int J Mol Sci. 2016 Nov 22;17(11): E1952.

  • Liang WC, Lin YF, Liu TY, Chang SC, Chen BH, Nishino I, Jong YJ.
    Neurite growth could be impaired by ETFDH mutation but restored by mitochondrial cofactors.
    Muscle Nerve. 2016 Dec 9. [Epub ahead of print]

  • Ikeda T, Nakahara A, Nagano R, Utoyama M, Obara M, Moritake H, Uechi T, Mitsui J, Ishiura H, Yoshimura J, Doi K, Kenmochi N, Morishita S, Nishino I, Tsuji S, Nunoi H.
    TBCD may be a causal gene in progressive neurodegenerative encephalopathy with atypical infantile spinal muscular atrophy.
    J Hum Genet. 2017 Apr;62(4):473-480. Epub 2016 Dec 8.

  • Nakamura K, Hamaguchi T, Sakai K, Noto D, Ono K, Hayashi YK, Nishino I, Yamada M.
    Granuloma formation in a patient with GNE myopathy: A case report.
    Neuromuscul Disord. 2017 Feb;27(2):183-184.

  • Munteanu I, Kalimo H, Saraste A, Nishino I, Minassian BA.
    Cardiac autophagic vacuolation in severe X-linked myopathy with excessive autophagy.
    Neuromuscul Disord. 2017 Feb;27(2):185-187.

  • Matsuoka T, Miwa Y, Tajika M, Sawada M, Fujimaki K, Soga T, Tomita H, Uemura S, Nishino I, Fukuda T, Sugie H, Kosuga M, Okuyama T, Umeda Y.
    Divergent clinical outcomes of alpha-glucosidase enzyme replacement therapy in two siblings with infantile-onset Pompe disease treated in the symptomatic or pre-symptomatic state.
    Mol Genet Metab Rep. 2016 Nov 18;9:98-105.

  • Suzuki N, Mori-Yoshimura M, Yamashita S, Nakano S, Murata KY, Inamori Y, Matsui N, Kimura E, Kusaka H, Kondo T, Higuchi I, Kaji R, Tateyama M, Izumi R, Ono H, Kato M, Warita H, Takahashi T, Nishino I, Aoki M.
    Multicenter questionnaire survey for sporadic inclusion body myositis in Japan.
    Orphanet J Rare Dis. 2016 Nov 8;11(1):146.

  • Liang WC, Uruha A, Suzuki S, Murakami N, Takeshita E, Chen WZ, Jong YJ, Endo Y, Komaki H, Fujii T, Kawano Y, Mori-Yoshimura M, Oya Y, Xi J, Zhu W, Zhao C, Watanabe Y, Ikemoto K, Nishikawa A, Hamanaka K, Mitsuhashi S, Suzuki N, Nishino I.
    Pediatric necrotizing myopathy associated with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase antibodies.
    Rheumatology (Oxford). 2017 Feb;56(2):287-293.

  • Ohnuki Y, Suzuki S, Shiina T, Uruha A, Watanabe Y, Suzuki S, Izumi S, Nakahara J, Hamanaka K, Takayama K, Suzuki N, Nishino I.
    HLA-DRB1 alleles in immune-mediated necrotizing myopathy.
    Neurology. 2016 Nov 1;87(18):1954-1955.

  • Zaha K, Matsumoto H, Itoh M, Saitsu H, Kato K, Kato M, Ogata S, Murayama K, Kishita Y, Mizuno Y, Kohda M, Nishino I, Ohtake A, Okazaki Y, Matsumoto N, Nonoyama S.
    DNM1L-related encephalopathy in infancy with Leigh syndrome-like phenotype and suppression-burst.
    Clin Genet. 2016 Nov;90(5):472-474.

  • Miyake N, Fukai R, Ohba C, Chihara T, Miura M, Shimizu H, Kakita A, Imagawa E, Shiina M, Ogata K, Okuno-Yuguchi J, Fueki N, Ogiso Y, Suzumura H, Watabe Y, Imataka G, Leong HY, Fattal-Valevski A, Kramer U, Miyatake S, Kato M, Okamoto N, Sato Y, Mitsuhashi S, Nishino I, Kaneko N, Nishiyama A, Tamura T, Mizuguchi T, Nakashima M, Tanaka F, Saitsu H, Matsumoto N.
    Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy.
    Am J Hum Genet. 2016 Oct 6;99(4):950-961.

  • Termglinchan T, Hisamatsu S, Ohmori J, Suzumura H, Sumitomo N, Imataka G, Arisaka O, Murakami N, Minami N, Akihiko I, Sasaki M, Goto Y, Noguchi S, Nonaka I, Mitsuhashi S, Nishino I.
    Novel TK2 mutations as a cause of delayed muscle maturation in mtDNA depletion syndrome.
    Neurol Genet. 2016 Sep 14;2(5):e95.

  • Uezumi A, Nakatani M, Ikemoto-Uezumi M, Yamamoto N, Morita M, Yamaguchi A, Yamada H, Kasai T, Masuda S, Narita A, Miyagoe-Suzuki Y, Takeda S, Fukada S, Nishino I, Tsuchida K.
    Cell-Surface Protein Profiling Identifies Distinctive Markers of Progenitor Cells in Human Skeletal Muscle.
    Stem Cell Reports. 2016 Aug 9;7(2):263-278.

  • Mori-Yoshimura M, Segawa K, Minami N, Oya Y, Komaki H, Nonaka I, Nishino I, Murata M.
    Cardiopulmonary dysfunction in patients with limb-girdle muscular dystrophy 2A.
    Muscle Nerve. 2017 Apr;55(4):465-469. Epub 2016 Dec 30

  • Takayama K, Mitsuhashi S, Shin JY, Tanaka R, Fujii T, Tsuburaya R, Mukaida S, Noguchi S, Nonaka I, Nishino I.
    Japanese multiple epidermal growth factor 10 (MEGF10) myopathy with novel mutations: A phenotype-genotype correlation.
    Neuromuscul Disord. 2016 Sep;26(9):604-609.

  • Preethish-Kumar V, Pogoryelova O, Polavarapu K, Gayathri N, Seena V, Hudson J, Nishino I, Prasad C, Lochmüller H, Nalini A.
    Beevor's sign: a potential clinical marker for GNE myopathy.
    Eur J Neurol. 2016 Aug;23(8):e46-8.

  • Hamanaka K, Goto K, Arai M, Nagao K, Obuse C, Noguchi S, Hayashi YK, Mitsuhashi S, Nishino I.
    Corrigendum to "Clinical, muscle pathological, and genetic features of Japanese facioscapulohumeral muscular dystrophy 2 (FSHD2) patients with SMCHD1 mutations": [Neuromuscular Disorders 26/4-5 (2016) 300-308].
    Neuromuscul Disord. 2016 Jul;26(7):472.

  • Uruha A, Suzuki S, Suzuki N, Nishino I.
    Perifascicular necrosis in anti-synthetase syndrome beyond anti-Jo-1.
    Brain. 2016 Sep;139(Pt 9):e50.

  • Ikeda K, Mori-Yoshimura M, Yamamoto T, Sonoo M, Suzuki S, Kondo Y, Nakamura H, Mitsuhashi K, Maeda MH, Shimizu J, Hayashi YK, Nishino I, Oya Y, Murata M.
    Chronic Myopathy Associated With Anti-Signal Recognition Particle Antibodies Can Be Misdiagnosed As Facioscapulohumeral Muscular Dystrophy.
    J Clin Neuromuscul Dis. 2016 Jun;17(4):197-206.

  • Furuta M, Sumi-Akamaru H, Takahashi MP, Hayashi YK, Nishino I, Mochizuki H.
    An elderly-onset limb girdle muscular dystrophy type 1B (LGMD1B) with pseudo-hypertrophy of paraspinal muscles.
    Neuromuscul Disord. 2016 Sep;26(9):593-597.

  • van den Boogaard ML, Lemmers RJ, Balog J, Wohlgemuth M, Auranen M, Mitsuhashi S, van der Vliet PJ, Straasheijm KR, van den Akker RF, Kriek M, Laurense-Bik ME, Raz V, van Ostaijen-Ten Dam MM, Hansson KB, van der Kooi EL, Kiuru-Enari S, Udd B, van Tol MJ, Nishino I, Tawil R, Tapscott SJ, van Engelen BG, van der Maarel SM.
    Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy.
    Am J Hum Genet. 2016 May 5;98(5):1020-1029.

  • Watanabe Y, Uruha A, Suzuki S, Nakahara J, Hamanaka K, Takayama K, Suzuki N, Nishino I.
    Clinical features and prognosis in anti-SRP and anti-HMGCR necrotising myopathy.
    J Neurol Neurosurg Psychiatry. 2016 Oct;87(10):1038-1044.

  • Sugie K, Yoshizawa H, Onoue K, Nakanishi Y, Eura N, Ogawa M, Nakano T, Sakaguchi Y, Hayashi YK, Kishimoto T, Shima M, Saito Y, Nishino I, Ueno S.
    Early onset of cardiomyopathy and intellectual disability in a girl with Danon disease associated with a de novo novel mutation of the LAMP2 gene.
    Neuropathology. 2016 Dec;36(6):561-565.

  • Endo Y, Dong M, Noguchi S, Ogawa M, Hayashi YK, Kuru S, Sugiyama K, Nagai S, Ozasa S, Nonaka I, Nishino I.
    Milder forms of muscular dystrophy associated with POMGNT2 mutations.
    Neurol Genet. 2015 Dec 10;1(4):e33

  • Izumi R, Warita H, Niihori T, Takahashi T, Tateyama M, Suzuki N, Nishiyama A, Shirota M, Funayama R, Nakayama K, Mitsuhashi S, Nishino I, Aoki Y, Aoki M.
    Isolated inclusion body myopathy caused by a multisystem proteinopathy-linked hnRNPA1 mutation.
    Neurol Genet. 2015 Sep 24;1(3):e23.

  • Hamanaka K, Goto K, Arai M, Nagao K, Obuse C, Noguchi S, Hayashi YK, Mitsuhashi S, Nishino I.
    Clinical, muscle pathological, and genetic features of Japanese facioscapulohumeral muscular dystrophy 2 (FSHD2) patients with SMCHD1 mutations.
    Neuromuscul Disord. 2016 Apr-May;26(4-5):300-308.

  • Liang WC, Chou PC, Hung CC, Su YN, Kan TM, Chen WZ, Hayashi YK, Nishino I, Jong YJ.
    Probable high prevalence of limb-girdle muscular dystrophy type 2D in Taiwan.
    J Neurol Sci. 2016 Mar 15;362:304-308.

  • Okubo M, Minami N, Goto K, Goto Y, Noguchi S, Mitsuhashi S, Nishino I.
    Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations.
    J Hum Genet. 2016 Jun;61(6):483-489.

  • Hamanaka K, Inami I, Wada T, Mitsuhashi S, Noguchi S, Hayashi YK, Nishino I.
    Muscle from a 20-week-old myotubular myopathy fetus is not myotubular.
    Neuromuscul Disord. 2016 Mar;26(3):234-235.

  • Inoue T, Murakami N, Ayabe T, Oto Y, Nishino I, Goto Y, Koga Y, Sakuta R.
    Pyruvate Improved Insulin Secretion Status in a Mitochondrial Diabetes Mellitus Patient.
    J Clin Endocrinol Metab. 2016 May;101(5):1924-1926.

  • Klionsky DJ, Abdelmohsen K, Abe A, Abedin MJ, Abeliovich H, Acevedo Arozena A, Adachi H, Adams CM, Adams PD, Adeli K, Adhihetty PJ, Adler SG, Agam G, Agarwal R, Aghi MK, Agnello M, Agostinis P, Aguilar PV, Aguirre-Ghiso J, Airoldi EM, Ait-Si-Ali S, Akematsu T, Akporiaye ET, Al-Rubeai M, Albaiceta GM, Albanese C, Albani D, Albert ML, Aldudo J, Algül H, Alirezaei M, Alloza I, Almasan A, Almonte-Beceril M, Alnemri ES, Alonso C, Altan-Bonnet N, Altieri DC, Alvarez S, Alvarez-Erviti L, Alves S, Amadoro G, Amano A, Amantini C, Ambrosio S, Amelio I, Amer AO, Amessou M, Amon A, An Z, Anania FA, Andersen SU, Andley UP, Andreadi CK, Andrieu-Abadie N, Anel A, Ann DK, Anoopkumar-Dukie S, Antonioli M, Aoki H, Apostolova N, Aquila S, Aquilano K, Araki K, Arama E, Aranda A, Araya J, Arcaro A, Arias E, Arimoto H, Ariosa AR, Armstrong JL, Arnould T, Arsov I, Asanuma K, Askanas V, Asselin E, Atarashi R, Atherton SS, Atkin JD, Attardi LD, Auberger P, Auburger G, Aurelian L, Autelli R, Avagliano L, Avantaggiati ML, Avrahami L, Awale S, Azad N, Bachetti T, Backer JM, Bae DH, Bae JS, Bae ON, Bae SH, Baehrecke EH, Baek SH, Baghdiguian S, Bagniewska-Zadworna A, Bai H, Bai J, Bai XY, Bailly Y, Balaji KN, Balduini W, Ballabio A, Balzan R, Banerjee R, Bánhegyi G, Bao H, Barbeau B, Barrachina MD, Barreiro E, Bartel B, Bartolomé A, Bassham DC, Bassi MT, Bast RC Jr, Basu A, Batista MT, Batoko H, Battino M, Bauckman K, Baumgarner BL, Bayer KU, Beale R, Beaulieu JF, Beck GR Jr, Becker C, Beckham JD, Bédard PA, Bednarski PJ, Begley TJ, Behl C, Behrends C, Behrens GM, Behrns KE, Bejarano E, Belaid A, Belleudi F, Bénard G, Berchem G, Bergamaschi D, Bergami M, Berkhout B, Berliocchi L, Bernard A, Bernard M, Bernassola F, Bertolotti A, Bess AS, Besteiro S, Bettuzzi S, Bhalla S, Bhattacharyya S, Bhutia SK, Biagosch C, Bianchi MW, Biard-Piechaczyk M, Billes V, Bincoletto C, Bingol B, Bird SW, Bitoun M, Bjedov I, Blackstone C, Blanc L, Blanco GA, Blomhoff HK, Boada-Romero E, Böckler S, Boes M, Boesze-Battaglia K, Boise LH, Bolino A, Boman A, Bonaldo P, Bordi M, Bosch J, Botana LM, Botti J, Bou G, Bouché M, Bouchecareilh M, Boucher MJ, Boulton ME, Bouret SG, Boya P, Boyer-Guittaut M, Bozhkov PV, Brady N, Braga VM, Brancolini C, Braus GH, Bravo-San Pedro JM, Brennan LA, Bresnick EH, Brest P, Bridges D, Bringer MA, Brini M, Brito GC, Brodin B, Brookes PS, Brown EJ, Brown K, Broxmeyer HE, Bruhat A, Brum PC, Brumell JH, Brunetti-Pierri N, Bryson-Richardson RJ, Buch S, Buchan AM, Budak H, Bulavin DV, Bultman SJ, Bultynck G, Bumbasirevic V, Burelle Y, Burke RE, Burmeister M, Bütikofer P, Caberlotto L, Cadwell K, Cahova M, Cai D, Cai J, Cai Q, Calatayud S, Camougrand N, Campanella M, Campbell GR, Campbell M, Campello S, Candau R, Caniggia I, Cantoni L, Cao L, Caplan AB, Caraglia M, Cardinali C, Cardoso SM, Carew JS, Carleton LA, Carlin CR, Carloni S, Carlsson SR, Carmona-Gutierrez D, Carneiro LA, Carnevali O, Carra S, Carrier A, Carroll B, Casas C, Casas J, Cassinelli G, Castets P, Castro-Obregon S, Cavallini G, Ceccherini I, Cecconi F, Cederbaum AI, Ceña V, Cenci S, Cerella C, Cervia D, Cetrullo S, Chaachouay H, Chae HJ, Chagin AS, Chai CY, Chakrabarti G, Chamilos G, Chan EY, Chan MT, Chandra D, Chandra P, Chang CP, Chang RC, Chang TY, Chatham JC, Chatterjee S, Chauhan S, Che Y, Cheetham ME, Cheluvappa R, Chen CJ, Chen G, Chen GC, Chen G, Chen H, Chen JW, Chen JK, Chen M, Chen M, Chen P, Chen Q, Chen Q, Chen SD, Chen S, Chen SS, Chen W, Chen WJ, Chen WQ, Chen W, Chen X, Chen YH, Chen YG, Chen Y, Chen Y, Chen Y, Chen YJ, Chen YQ, Chen Y, Chen Z, Chen Z, Cheng A, Cheng CH, Cheng H, Cheong H, Cherry S, Chesney J, Cheung CH, Chevet E, Chi HC, Chi SG, Chiacchiera F, Chiang HL, Chiarelli R, Chiariello M, Chieppa M, Chin LS, Chiong M, Chiu GN, Cho DH, Cho SG, Cho WC, Cho YY, Cho YS, Choi AM, Choi EJ, Choi EK, Choi J, Choi ME, Choi SI, Chou TF, Chouaib S, Choubey D, Choubey V, Chow KC, Chowdhury K, Chu CT, Chuang TH, Chun T, Chung H, Chung T, Chung YL, Chwae YJ, Cianfanelli V, Ciarcia R, Ciechomska IA, Ciriolo MR, Cirone M, Claerhout S, Clague MJ, Clària J, Clarke PG, Clarke R, Clementi E, Cleyrat C, Cnop M, Coccia EM, Cocco T, Codogno P, Coers J, Cohen EE, Colecchia D, Coletto L, Coll NS, Colucci-Guyon E, Comincini S, Condello M, Cook KL, Coombs GH, Cooper CD, Cooper JM, Coppens I, Corasaniti MT, Corazzari M, Corbalan R, Corcelle-Termeau E, Cordero MD, Corral-Ramos C, Corti O, Cossarizza A, Costelli P, Costes S, Cotman SL, Coto-Montes A, Cottet S, Couve E, Covey LR, Cowart LA, Cox JS, Coxon FP, Coyne CB, Cragg MS, Craven RJ, Crepaldi T, Crespo JL, Criollo A, Crippa V, Cruz MT, Cuervo AM, Cuezva JM, Cui T, Cutillas PR, Czaja MJ, Czyzyk-Krzeska MF, Dagda RK, Dahmen U, Dai C, Dai W, Dai Y, Dalby KN, Dalla Valle L, Dalmasso G, D'Amelio M, Damme M, Darfeuille-Michaud A, Dargemont C, Darley-Usmar VM, Dasarathy S, Dasgupta B, Dash S, Dass CR, Davey HM, Davids LM, Dávila D, Davis RJ, Dawson TM, Dawson VL, Daza P, de Belleroche J, de Figueiredo P, de Figueiredo RC, de la Fuente J, De Martino L, De Matteis A, De Meyer GR, De Milito A, De Santi M, de Souza W, De Tata V, De Zio D, Debnath J, Dechant R, Decuypere JP, Deegan S, Dehay B, Del Bello B, Del Re DP, Delage-Mourroux R, Delbridge LM, Deldicque L, Delorme-Axford E, Deng Y, Dengjel J, Denizot M, Dent P, Der CJ, Deretic V, Derrien B, Deutsch E, Devarenne TP, Devenish RJ, Di Bartolomeo S, Di Daniele N, Di Domenico F, Di Nardo A, Di Paola S, Di Pietro A, Di Renzo L, DiAntonio A, Díaz-Araya G, Díaz-Laviada I, Diaz-Meco MT, Diaz-Nido J, Dickey CA, Dickson RC, Diederich M, Digard P, Dikic I, Dinesh-Kumar SP, Ding C, Ding WX, Ding Z, Dini L, Distler JH, Diwan A, Djavaheri-Mergny M, Dmytruk K, Dobson RC, Doetsch V, Dokladny K, Dokudovskaya S, Donadelli M, Dong XC, Dong X, Dong Z, Donohue TM Jr, Doran KS, D'Orazi G, Dorn GW 2nd, Dosenko V, Dridi S, Drucker L, Du J, Du LL, Du L, du Toit A, Dua P, Duan L, Duann P, Dubey VK, Duchen MR, Duchosal MA, Duez H, Dugail I, Dumit VI, Duncan MC, Dunlop EA, Dunn WA Jr, Dupont N, Dupuis L, Durán RV, Durcan TM, Duvezin-Caubet S, Duvvuri U, Eapen V, Ebrahimi-Fakhari D, Echard A, Eckhart L, Edelstein CL, Edinger AL, Eichinger L, Eisenberg T, Eisenberg-Lerner A, Eissa NT, El-Deiry WS, El-Khoury V, Elazar Z, Eldar-Finkelman H, Elliott CJ, Emanuele E, Emmenegger U, Engedal N, Engelbrecht AM, Engelender S, Enserink JM, Erdmann R, Erenpreisa J, Eri R, Eriksen JL, Erman A, Escalante R, Eskelinen EL, Espert L, Esteban-Martínez L, Evans TJ, Fabri M, Fabrias G, Fabrizi C, Facchiano A, Færgeman NJ, Faggioni A, Fairlie WD, Fan C, Fan D, Fan J, Fang S, Fanto M, Fanzani A, Farkas T, Faure M, Favier FB, Fearnhead H, Federici M, Fei E, Felizardo TC, Feng H, Feng Y, Feng Y, Ferguson TA, Fernández ÁF, Fernandez-Barrena MG, Fernandez-Checa JC, Fernández-López A, Fernandez-Zapico ME, Feron O, Ferraro E, Ferreira-Halder CV, Fesus L, Feuer R, Fiesel FC, Filippi-Chiela EC, Filomeni G, Fimia GM, Fingert JH, Finkbeiner S, Finkel T, Fiorito F, Fisher PB, Flajolet M, Flamigni F, Florey O, Florio S, Floto RA, Folini M, Follo C, Fon EA, Fornai F, Fortunato F, Fraldi A, Franco R, Francois A, François A, Frankel LB, Fraser ID, Frey N, Freyssenet DG, Frezza C, Friedman SL, Frigo DE, Fu D, Fuentes JM, Fueyo J, Fujitani Y, Fujiwara Y, Fujiya M, Fukuda M, Fulda S, Fusco C, Gabryel B, Gaestel M, Gailly P, Gajewska M, Galadari S, Galili G, Galindo I, Galindo MF, Galliciotti G, Galluzzi L, Galluzzi L, Galy V, Gammoh N, Gandy S, Ganesan AK, Ganesan S, Ganley IG, Gannagé M, Gao FB, Gao F, Gao JX, García Nannig L, García Véscovi E, Garcia-Macía M, Garcia-Ruiz C, Garg AD, Garg PK, Gargini R, Gassen NC, Gatica D, Gatti E, Gavard J, Gavathiotis E, Ge L, Ge P, Ge S, Gean PW, Gelmetti V, Genazzani AA, Geng J, Genschik P, Gerner L, Gestwicki JE, Gewirtz DA, Ghavami S, Ghigo E, Ghosh D, Giammarioli AM, Giampieri F, Giampietri C, Giatromanolaki A, Gibbings DJ, Gibellini L, Gibson SB, Ginet V, Giordano A, Giorgini F, Giovannetti E, Girardin SE, Gispert S, Giuliano S, Gladson CL, Glavic A, Gleave M, Godefroy N, Gogal RM Jr, Gokulan K, Goldman GH, Goletti D, Goligorsky MS, Gomes AV, Gomes LC, Gomez H, Gomez-Manzano C, Gómez-Sánchez R, Gonçalves DA, Goncu E, Gong Q, Gongora C, Gonzalez CB, Gonzalez-Alegre P, Gonzalez-Cabo P, González-Polo RA, Goping IS, Gorbea C, Gorbunov NV, Goring DR, Gorman AM, Gorski SM, Goruppi S, Goto-Yamada S, Gotor C, Gottlieb RA, Gozes I, Gozuacik D, Graba Y, Graef M, Granato GE, Grant GD, Grant S, Gravina GL, Green DR, Greenhough A, Greenwood MT, Grimaldi B, Gros F, Grose C, Groulx JF, Gruber F, Grumati P, Grune T, Guan JL, Guan KL, Guerra B, Guillen C, Gulshan K, Gunst J, Guo C, Guo L, Guo M, Guo W, Guo XG, Gust AA, Gustafsson ÅB, Gutierrez E, Gutierrez MG, Gwak HS, Haas A, Haber JE, Hadano S, Hagedorn M, Hahn DR, Halayko AJ, Hamacher-Brady A, Hamada K, Hamai A, Hamann A, Hamasaki M, Hamer I, Hamid Q, Hammond EM, Han F, Han W, Handa JT, Hanover JA, Hansen M, Harada M, Harhaji-Trajkovic L, Harper JW, Harrath AH, Harris AL, Harris J, Hasler U, Hasselblatt P, Hasui K, Hawley RG, Hawley TS, He C, He CY, He F, He G, He RR, He XH, He YW, He YY, Heath JK, Hébert MJ, Heinzen RA, Helgason GV, Hensel M, Henske EP, Her C, Herman PK, Hernández A, Hernandez C, Hernández-Tiedra S, Hetz C, Hiesinger PR, Higaki K, Hilfiker S, Hill BG, Hill JA, Hill WD, Hino K, Hofius D, Hofman P, Höglinger GU, Höhfeld J, Holz MK, Hong Y, Hood DA, Hoozemans JJ, Hoppe T, Hsu C, Hsu CY, Hsu LC, Hu D, Hu G, Hu HM, Hu H, Hu MC, Hu YC, Hu ZW, Hua F, Hua Y, Huang C, Huang HL, Huang KH, Huang KY, Huang S, Huang S, Huang WP, Huang YR, Huang Y, Huang Y, Huber TB, Huebbe P, Huh WK, Hulmi JJ, Hur GM, Hurley JH, Husak Z, Hussain SN, Hussain S, Hwang JJ, Hwang S, Hwang TI, Ichihara A, Imai Y, Imbriano C, Inomata M, Into T, Iovane V, Iovanna JL, Iozzo RV, Ip NY, Irazoqui JE, Iribarren P, Isaka Y, Isakovic AJ, Ischiropoulos H, Isenberg JS, Ishaq M, Ishida H, Ishii I, Ishmael JE, Isidoro C, Isobe KI, Isono E, Issazadeh-Navikas S, Itahana K, Itakura E, Ivanov AI, Iyer AK, Izquierdo JM, Izumi Y, Izzo V, Jäättelä M, Jaber N, Jackson DJ, Jackson WT, Jacob TG, Jacques TS, Jagannath C, Jain A, Jana NR, Jang BK, Jani A, Janji B, Jannig PR, Jansson PJ, Jean S, Jendrach M, Jeon JH, Jessen N, Jeung EB, Jia K, Jia L, Jiang H, Jiang H, Jiang L, Jiang T, Jiang X, Jiang X, Jiang X, Jiang Y, Jiang Y, Jiménez A, Jin C, Jin H, Jin L, Jin M, Jin S, Jinwal UK, Jo EK, Johansen T, Johnson DE, Johnson GV, Johnson JD, Jonasch E, Jones C, Joosten LA, Jordan J, Joseph AM, Joseph B, Joubert AM, Ju D, Ju J, Juan HF, Juenemann K, Juhász G, Jung HS, Jung JU, Jung YK, Jungbluth H, Justice MJ, Jutten B, Kaakoush NO, Kaarniranta K, Kaasik A, Kabuta T, Kaeffer B, Kågedal K, Kahana A, Kajimura S, Kakhlon O, Kalia M, Kalvakolanu DV, Kamada Y, Kambas K, Kaminskyy VO, Kampinga HH, Kandouz M, Kang C, Kang R, Kang TC, Kanki T, Kanneganti TD, Kanno H, Kanthasamy AG, Kantorow M, Kaparakis-Liaskos M, Kapuy O, Karantza V, Karim MR, Karmakar P, Kaser A, Kaushik S, Kawula T, Kaynar AM, Ke PY, Ke ZJ, Kehrl JH, Keller KE, Kemper JK, Kenworthy AK, Kepp O, Kern A, Kesari S, Kessel D, Ketteler R, Kettelhut ID, Khambu B, Khan MM, Khandelwal VK, Khare S, Kiang JG, Kiger AA, Kihara A, Kim AL, Kim CH, Kim DR, Kim DH, Kim EK, Kim HY, Kim HR, Kim JS, Kim JH, Kim JC, Kim JH, Kim KW, Kim MD, Kim MM, Kim PK, Kim SW, Kim SY, Kim YS, Kim Y, Kimchi A, Kimmelman AC, Kimura T, King JS, Kirkegaard K, Kirkin V, Kirshenbaum LA, Kishi S, Kitajima Y, Kitamoto K, Kitaoka Y, Kitazato K, Kley RA, Klimecki WT, Klinkenberg M, Klucken J, Knævelsrud H, Knecht E, Knuppertz L, Ko JL, Kobayashi S, Koch JC, Koechlin-Ramonatxo C, Koenig U, Koh YH, Köhler K, Kohlwein SD, Koike M, Komatsu M, Kominami E, Kong D, Kong HJ, Konstantakou EG, Kopp BT, Korcsmaros T, Korhonen L, Korolchuk VI, Koshkina NV, Kou Y, Koukourakis MI, Koumenis C, Kovács AL, Kovács T, Kovacs WJ, Koya D, Kraft C, Krainc D, Kramer H, Kravic-Stevovic T, Krek W, Kretz-Remy C, Krick R, Krishnamurthy M, Kriston-Vizi J, Kroemer G, Kruer MC, Kruger R, Ktistakis NT, Kuchitsu K, Kuhn C, Kumar AP, Kumar A, Kumar A, Kumar D, Kumar D, Kumar R, Kumar S, Kundu M, Kung HJ, Kuno A, Kuo SH, Kuret J, Kurz T, Kwok T, Kwon TK, Kwon YT, Kyrmizi I, La Spada AR, Lafont F, Lahm T, Lakkaraju A, Lam T, Lamark T, Lancel S, Landowski TH, Lane DJ, Lane JD, Lanzi C, Lapaquette P, Lapierre LR, Laporte J, Laukkarinen J, Laurie GW, Lavandero S, Lavie L, LaVoie MJ, Law BY, Law HK, Law KB, Layfield R, Lazo PA, Le Cam L, Le Roch KG, Le Stunff H, Leardkamolkarn V, Lecuit M, Lee BH, Lee CH, Lee EF, Lee GM, Lee HJ, Lee H, Lee JK, Lee J, Lee JH, Lee JH, Lee M, Lee MS, Lee PJ, Lee SW, Lee SJ, Lee SJ, Lee SY, Lee SH, Lee SS, Lee SJ, Lee S, Lee YR, Lee YJ, Lee YH, Leeuwenburgh C, Lefort S, Legouis R, Lei J, Lei QY, Leib DA, Leibowitz G, Lekli I, Lemaire SD, Lemasters JJ, Lemberg MK, Lemoine A, Leng S, Lenz G, Lenzi P, Lerman LO, Lettieri Barbato D, Leu JI, Leung HY, Levine B, Lewis PA, Lezoualc'h F, Li C, Li F, Li FJ, Li J, Li K, Li L, Li M, Li M, Li Q, Li R, Li S, Li W, Li W, Li X, Li Y, Lian J, Liang C, Liang Q, Liao Y, Liberal J, Liberski PP, Lie P, Lieberman AP, Lim HJ, Lim KL, Lim K, Lima RT, Lin CS, Lin CF, Lin F, Lin F, Lin FC, Lin K, Lin KH, Lin PH, Lin T, Lin WW, Lin YS, Lin Y, Linden R, Lindholm D, Lindqvist LM, Lingor P, Linkermann A, Liotta LA, Lipinski MM, Lira VA, Lisanti MP, Liton PB, Liu B, Liu C, Liu CF, Liu F, Liu HJ, Liu J, Liu JJ, Liu JL, Liu K, Liu L, Liu L, Liu Q, Liu RY, Liu S, Liu S, Liu W, Liu XD, Liu X, Liu XH, Liu X, Liu X, Liu X, Liu Y, Liu Y, Liu Z, Liu Z, Liuzzi JP, Lizard G, Ljujic M, Lodhi IJ, Logue SE, Lokeshwar BL, Long YC, Lonial S, Loos B, López-Otín C, López-Vicario C, Lorente M, Lorenzi PL, Lõrincz P, Los M, Lotze MT, Lovat PE, Lu B, Lu B, Lu J, Lu Q, Lu SM, Lu S, Lu Y, Luciano F, Luckhart S, Lucocq JM, Ludovico P, Lugea A, Lukacs NW, Lum JJ, Lund AH, Luo H, Luo J, Luo S, Luparello C, Lyons T, Ma J, Ma Y, Ma Y, Ma Z, Machado J, Machado-Santelli GM, Macian F, MacIntosh GC, MacKeigan JP, Macleod KF, MacMicking JD, MacMillan-Crow LA, Madeo F, Madesh M, Madrigal-Matute J, Maeda A, Maeda T, Maegawa G, Maellaro E, Maes H, Magariños M, Maiese K, Maiti TK, Maiuri L, Maiuri MC, Maki CG, Malli R, Malorni W, Maloyan A, Mami-Chouaib F, Man N, Mancias JD, Mandelkow EM, Mandell MA, Manfredi AA, Manié SN, Manzoni C, Mao K, Mao Z, Mao ZW, Marambaud P, Marconi AM, Marelja Z, Marfe G, Margeta M, Margittai E, Mari M, Mariani FV, Marin C, Marinelli S, Mariño G, Markovic I, Marquez R, Martelli AM, Martens S, Martin KR, Martin SJ, Martin S, Martin-Acebes MA, Martín-Sanz P, Martinand-Mari C, Martinet W, Martinez J, Martinez-Lopez N, Martinez-Outschoorn U, Martínez-Velázquez M, Martinez-Vicente M, Martins WK, Mashima H, Mastrianni JA, Matarese G, Matarrese P, Mateo R, Matoba S, Matsumoto N, Matsushita T, Matsuura A, Matsuzawa T, Mattson MP, Matus S, Maugeri N, Mauvezin C, Mayer A, Maysinger D, Mazzolini GD, McBrayer MK, McCall K, McCormick C, McInerney GM, McIver SC, McKenna S, McMahon JJ, McNeish IA, Mechta-Grigoriou F, Medema JP, Medina DL, Megyeri K, Mehrpour M, Mehta JL, Mei Y, Meier UC, Meijer AJ, Meléndez A, Melino G, Melino S, de Melo EJ, Mena MA, Meneghini MD, Menendez JA, Menezes R, Meng L, Meng LH, Meng S, Menghini R, Menko AS, Menna-Barreto RF, Menon MB, Meraz-Ríos MA, Merla G, Merlini L, Merlot AM, Meryk A, Meschini S, Meyer JN, Mi MT, Miao CY, Micale L, Michaeli S, Michiels C, Migliaccio AR, Mihailidou AS, Mijaljica D, Mikoshiba K, Milan E, Miller-Fleming L, Mills GB, Mills IG, Minakaki G, Minassian BA, Ming XF, Minibayeva F, Minina EA, Mintern JD, Minucci S, Miranda-Vizuete A, Mitchell CH, Miyamoto S, Miyazawa K, Mizushima N, Mnich K, Mograbi B, Mohseni S, Moita LF, Molinari M, Molinari M, Møller AB, Mollereau B, Mollinedo F, Mongillo M, Monick MM, Montagnaro S, Montell C, Moore DJ, Moore MN, Mora-Rodriguez R, Moreira PI, Morel E, Morelli MB, Moreno S, Morgan MJ, Moris A, Moriyasu Y, Morrison JL, Morrison LA, Morselli E, Moscat J, Moseley PL, Mostowy S, Motori E, Mottet D, Mottram JC, Moussa CE, Mpakou VE, Mukhtar H, Mulcahy Levy JM, Muller S, Muñoz-Moreno R, Muñoz-Pinedo C, Münz C, Murphy ME, Murray JT, Murthy A, Mysorekar IU, Nabi IR, Nabissi M, Nader GA, Nagahara Y, Nagai Y, Nagata K, Nagelkerke A, Nagy P, Naidu SR, Nair S, Nakano H, Nakatogawa H, Nanjundan M, Napolitano G, Naqvi NI, Nardacci R, Narendra DP, Narita M, Nascimbeni AC, Natarajan R, Navegantes LC, Nawrocki ST, Nazarko TY, Nazarko VY, Neill T, Neri LM, Netea MG, Netea-Maier RT, Neves BM, Ney PA, Nezis IP, Nguyen HT, Nguyen HP, Nicot AS, Nilsen H, Nilsson P, Nishimura M, Nishino I, Niso-Santano M, Niu H, Nixon RA, Njar VC, Noda T, Noegel AA, Nolte EM, Norberg E, Norga KK, Noureini SK, Notomi S, Notterpek L, Nowikovsky K, Nukina N, Nürnberger T, O'Donnell VB, O'Donovan T, O'Dwyer PJ, Oehme I, Oeste CL, Ogawa M, Ogretmen B, Ogura Y, Oh YJ, Ohmuraya M, Ohshima T, Ojha R, Okamoto K, Okazaki T, Oliver FJ, Ollinger K, Olsson S, Orban DP, Ordonez P, Orhon I, Orosz L, O'Rourke EJ, Orozco H, Ortega AL, Ortona E, Osellame LD, Oshima J, Oshima S, Osiewacz HD, Otomo T, Otsu K, Ou JJ, Outeiro TF, Ouyang DY, Ouyang H, Overholtzer M, Ozbun MA, Ozdinler PH, Ozpolat B, Pacelli C, Paganetti P, Page G, Pages G, Pagnini U, Pajak B, Pak SC, Pakos-Zebrucka K, Pakpour N, Palková Z, Palladino F, Pallauf K, Pallet N, Palmieri M, Paludan SR, Palumbo C, Palumbo S, Pampliega O, Pan H, Pan W, Panaretakis T, Pandey A, Pantazopoulou A, Papackova Z, Papademetrio DL, Papassideri I, Papini A, Parajuli N, Pardo J, Parekh VV, Parenti G, Park JI, Park J, Park OK, Parker R, Parlato R, Parys JB, Parzych KR, Pasquet JM, Pasquier B, Pasumarthi KB, Patschan D, Patterson C, Pattingre S, Pattison S, Pause A, Pavenstädt H, Pavone F, Pedrozo Z, Peña FJ, Peñalva MA, Pende M, Peng J, Penna F, Penninger JM, Pensalfini A, Pepe S, Pereira GJ, Pereira PC, Pérez-de la Cruz V, Pérez-Pérez ME, Pérez-Rodríguez D, Pérez-Sala D, Perier C, Perl A, Perlmutter DH, Perrotta I, Pervaiz S, Pesonen M, Pessin JE, Peters GJ, Petersen M, Petrache I, Petrof BJ, Petrovski G, Phang JM, Piacentini M, Pierdominici M, Pierre P, Pierrefite-Carle V, Pietrocola F, Pimentel-Muiños FX, Pinar M, Pineda B, Pinkas-Kramarski R, Pinti M, Pinton P, Piperdi B, Piret JM, Platanias LC, Platta HW, Plowey ED, Pöggeler S, Poirot M, Polčic P, Poletti A, Poon AH, Popelka H, Popova B, Poprawa I, Poulose SM, Poulton J, Powers SK, Powers T, Pozuelo-Rubio M, Prak K, Prange R, Prescott M, Priault M, Prince S, Proia RL, Proikas-Cezanne T, Prokisch H, Promponas VJ, Przyklenk K, Puertollano R, Pugazhenthi S, Puglielli L, Pujol A, Puyal J, Pyeon D, Qi X, Qian WB, Qin ZH, Qiu Y, Qu Z, Quadrilatero J, Quinn F, Raben N, Rabinowich H, Radogna F, Ragusa MJ, Rahmani M, Raina K, Ramanadham S, Ramesh R, Rami A, Randall-Demllo S, Randow F, Rao H, Rao VA, Rasmussen BB, Rasse TM, Ratovitski EA, Rautou PE, Ray SK, Razani B, Reed BH, Reggiori F, Rehm M, Reichert AS, Rein T, Reiner DJ, Reits E, Ren J, Ren X, Renna M, Reusch JE, Revuelta JL, Reyes L, Rezaie AR, Richards RI, Richardson DR, Richetta C, Riehle MA, Rihn BH, Rikihisa Y, Riley BE, Rimbach G, Rippo MR, Ritis K, Rizzi F, Rizzo E, Roach PJ, Robbins J, Roberge M, Roca G, Roccheri MC, Rocha S, Rodrigues CM, Rodríguez CI, de Cordoba SR, Rodriguez-Muela N, Roelofs J, Rogov VV, Rohn TT, Rohrer B, Romanelli D, Romani L, Romano PS, Roncero MI, Rosa JL, Rosello A, Rosen KV, Rosenstiel P, Rost-Roszkowska M, Roth KA, Roué G, Rouis M, Rouschop KM, Ruan DT, Ruano D, Rubinsztein DC, Rucker EB 3rd, Rudich A, Rudolf E, Rudolf R, Ruegg MA, Ruiz-Roldan C, Ruparelia AA, Rusmini P, Russ DW, Russo GL, Russo G, Russo R, Rusten TE, Ryabovol V, Ryan KM, Ryter SW, Sabatini DM, Sacher M, Sachse C, Sack MN, Sadoshima J, Saftig P, Sagi-Eisenberg R, Sahni S, Saikumar P, Saito T, Saitoh T, Sakakura K, Sakoh-Nakatogawa M, Sakuraba Y, Salazar-Roa M, Salomoni P, Saluja AK, Salvaterra PM, Salvioli R, Samali A, Sanchez AM, Sánchez-Alcázar JA, Sanchez-Prieto R, Sandri M, Sanjuan MA, Santaguida S, Santambrogio L, Santoni G, Dos Santos CN, Saran S, Sardiello M, Sargent G, Sarkar P, Sarkar S, Sarrias MR, Sarwal MM, Sasakawa C, Sasaki M, Sass M, Sato K, Sato M, Satriano J, Savaraj N, Saveljeva S, Schaefer L, Schaible UE, Scharl M, Schatzl HM, Schekman R, Scheper W, Schiavi A, Schipper HM, Schmeisser H, Schmidt J, Schmitz I, Schneider BE, Schneider EM, Schneider JL, Schon EA, Schönenberger MJ, Schönthal AH, Schorderet DF, Schröder B, Schuck S, Schulze RJ, Schwarten M, Schwarz TL, Sciarretta S, Scotto K, Scovassi AI, Screaton RA, Screen M, Seca H, Sedej S, Segatori L, Segev N, Seglen PO, Seguí-Simarro JM, Segura-Aguilar J, Seki E, Sell C, Selliez I, Semenkovich CF, Semenza GL, Sen U, Serra AL, Serrano-Puebla A, Sesaki H, Setoguchi T, Settembre C, Shacka JJ, Shajahan-Haq AN, Shapiro IM, Sharma S, She H, Shen CJ, Shen CC, Shen HM, Shen S, Shen W, Sheng R, Sheng X, Sheng ZH, Shepherd TG, Shi J, Shi Q, Shi Q, Shi Y, Shibutani S, Shibuya K, Shidoji Y, Shieh JJ, Shih CM, Shimada Y, Shimizu S, Shin DW, Shinohara ML, Shintani M, Shintani T, Shioi T, Shirabe K, Shiri-Sverdlov R, Shirihai O, Shore GC, Shu CW, Shukla D, Sibirny AA, Sica V, Sigurdson CJ, Sigurdsson EM, Sijwali PS, Sikorska B, Silveira WA, Silvente-Poirot S, Silverman GA, Simak J, Simmet T, Simon AK, Simon HU, Simone C, Simons M, Simonsen A, Singh R, Singh SV, Singh SK, Sinha D, Sinha S, Sinicrope FA, Sirko A, Sirohi K, Sishi BJ, Sittler A, Siu PM, Sivridis E, Skwarska A, Slack R, Slaninová I, Slavov N, Smaili SS, Smalley KS, Smith DR, Soenen SJ, Soleimanpour SA, Solhaug A, Somasundaram K, Son JH, Sonawane A, Song C, Song F, Song HK, Song JX, Song W, Soo KY, Sood AK, Soong TW, Soontornniyomkij V, Sorice M, Sotgia F, Soto-Pantoja DR, Sotthibundhu A, Sousa MJ, Spaink HP, Span PN, Spang A, Sparks JD, Speck PG, Spector SA, Spies CD, Springer W, Clair DS, Stacchiotti A, Staels B, Stang MT, Starczynowski DT, Starokadomskyy P, Steegborn C, Steele JW, Stefanis L, Steffan J, Stellrecht CM, Stenmark H, Stepkowski TM, Stern ST, Stevens C, Stockwell BR, Stoka V, Storchova Z, Stork B, Stratoulias V, Stravopodis DJ, Strnad P, Strohecker AM, Ström AL, Stromhaug P, Stulik J, Su YX, Su Z, Subauste CS, Subramaniam S, Sue CM, Suh SW, Sui X, Sukseree S, Sulzer D, Sun FL, Sun J, Sun J, Sun SY, Sun Y, Sun Y, Sun Y, Sundaramoorthy V, Sung J, Suzuki H, Suzuki K, Suzuki N, Suzuki T, Suzuki YJ, Swanson MS, Swanton C, Swärd K, Swarup G, Sweeney ST, Sylvester PW, Szatmari Z, Szegezdi E, Szlosarek PW, Taegtmeyer H, Tafani M, Taillebourg E, Tait SW, Takacs-Vellai K, Takahashi Y, Takáts S, Takemura G, Takigawa N, Talbot NJ, Tamagno E, Tamburini J, Tan CP, Tan L, Tan ML, Tan M, Tan YJ, Tanaka K, Tanaka M, Tang D, Tang D, Tang G, Tanida I, Tanji K, Tannous BA, Tapia JA, Tasset-Cuevas I, Tatar M, Tavassoly I, Tavernarakis N, Taylor A, Taylor GS, Taylor GA, Taylor JP, Taylor MJ, Tchetina EV, Tee AR, Teixeira-Clerc F, Telang S, Tencomnao T, Teng BB, Teng RJ, Terro F, Tettamanti G, Theiss AL, Theron AE, Thomas KJ, Thomé MP, Thomes PG, Thorburn A, Thorner J, Thum T, Thumm M, Thurston TL, Tian L, Till A, Ting JP, Titorenko VI, Toker L, Toldo S, Tooze SA, Topisirovic I, Torgersen ML, Torosantucci L, Torriglia A, Torrisi MR, Tournier C, Towns R, Trajkovic V, Travassos LH, Triola G, Tripathi DN, Trisciuoglio D, Troncoso R, Trougakos IP, Truttmann AC, Tsai KJ, Tschan MP, Tseng YH, Tsukuba T, Tsung A, Tsvetkov AS, Tu S, Tuan HY, Tucci M, Tumbarello DA, Turk B, Turk V, Turner RF, Tveita AA, Tyagi SC, Ubukata M, Uchiyama Y, Udelnow A, Ueno T, Umekawa M, Umemiya-Shirafuji R, Underwood BR, Ungermann C, Ureshino RP, Ushioda R, Uversky VN, Uzcátegui NL, Vaccari T, Vaccaro MI, Váchová L, Vakifahmetoglu-Norberg H, Valdor R, Valente EM, Vallette F, Valverde AM, Van den Berghe G, Van Den Bosch L, van den Brink GR, van der Goot FG, van der Klei IJ, van der Laan LJ, van Doorn WG, van Egmond M, van Golen KL, Van Kaer L, van Lookeren Campagne M, Vandenabeele P, Vandenberghe W, Vanhorebeek I, Varela-Nieto I, Vasconcelos MH, Vasko R, Vavvas DG, Vega-Naredo I, Velasco G, Velentzas AD, Velentzas PD, Vellai T, Vellenga E, Vendelbo MH, Venkatachalam K, Ventura N, Ventura S, Veras PS, Verdier M, Vertessy BG, Viale A, Vidal M, Vieira H, Vierstra RD, Vigneswaran N, Vij N, Vila M, Villar M, Villar VH, Villarroya J, Vindis C, Viola G, Viscomi MT, Vitale G, Vogl DT, Voitsekhovskaja OV, von Haefen C, von Schwarzenberg K, Voth DE, Vouret-Craviari V, Vuori K, Vyas JM, Waeber C, Walker CL, Walker MJ, Walter J, Wan L, Wan X, Wang B, Wang C, Wang CY, Wang C, Wang C, Wang C, Wang D, Wang F, Wang F, Wang G, Wang HJ, Wang H, Wang HG, Wang H, Wang HD, Wang J, Wang J, Wang M, Wang MQ, Wang PY, Wang P, Wang RC, Wang S, Wang TF, Wang X, Wang XJ, Wang XW, Wang X, Wang X, Wang Y, Wang Y, Wang Y, Wang YJ, Wang Y, Wang Y, Wang YT, Wang Y, Wang ZN, Wappner P, Ward C, Ward DM, Warnes G, Watada H, Watanabe Y, Watase K, Weaver TE, Weekes CD, Wei J, Weide T, Weihl CC, Weindl G, Weis SN, Wen L, Wen X, Wen Y, Westermann B, Weyand CM, White AR, White E, Whitton JL, Whitworth AJ, Wiels J, Wild F, Wildenberg ME, Wileman T, Wilkinson DS, Wilkinson S, Willbold D, Williams C, Williams K, Williamson PR, Winklhofer KF, Witkin SS, Wohlgemuth SE, Wollert T, Wolvetang EJ, Wong E, Wong GW, Wong RW, Wong VK, Woodcock EA, Wright KL, Wu C, Wu D, Wu GS, Wu J, Wu J, Wu M, Wu M, Wu S, Wu WK, Wu Y, Wu Z, Xavier CP, Xavier RJ, Xia GX, Xia T, Xia W, Xia Y, Xiao H, Xiao J, Xiao S, Xiao W, Xie CM, Xie Z, Xie Z, Xilouri M, Xiong Y, Xu C, Xu C, Xu F, Xu H, Xu H, Xu J, Xu J, Xu J, Xu L, Xu X, Xu Y, Xu Y, Xu ZX, Xu Z, Xue Y, Yamada T, Yamamoto A, Yamanaka K, Yamashina S, Yamashiro S, Yan B, Yan B, Yan X, Yan Z, Yanagi Y, Yang DS, Yang JM, Yang L, Yang M, Yang PM, Yang P, Yang Q, Yang W, Yang WY, Yang X, Yang Y, Yang Y, Yang Z, Yang Z, Yao MC, Yao PJ, Yao X, Yao Z, Yao Z, Yasui LS, Ye M, Yedvobnick B, Yeganeh B, Yeh ES, Yeyati PL, Yi F, Yi L, Yin XM, Yip CK, Yoo YM, Yoo YH, Yoon SY, Yoshida KI, Yoshimori T, Young KH, Yu H, Yu JJ, Yu JT, Yu J, Yu L, Yu WH, Yu XF, Yu Z, Yuan J, Yuan ZM, Yue BY, Yue J, Yue Z, Zacks DN, Zacksenhaus E, Zaffaroni N, Zaglia T, Zakeri Z, Zecchini V, Zeng J, Zeng M, Zeng Q, Zervos AS, Zhang DD, Zhang F, Zhang G, Zhang GC, Zhang H, Zhang H, Zhang H, Zhang H, Zhang J, Zhang J, Zhang J, Zhang J, Zhang JP, Zhang L, Zhang L, Zhang L, Zhang L, Zhang MY, Zhang X, Zhang XD, Zhang Y, Zhang Y, Zhang Y, Zhang Y, Zhang Y, Zhao M, Zhao WL, Zhao X, Zhao YG, Zhao Y, Zhao Y, Zhao YX, Zhao Z, Zhao ZJ, Zheng D, Zheng XL, Zheng X, Zhivotovsky B, Zhong Q, Zhou GZ, Zhou G, Zhou H, Zhou SF, Zhou XJ, Zhu H, Zhu H, Zhu WG, Zhu W, Zhu XF, Zhu Y, Zhuang SM, Zhuang X, Ziparo E, Zois CE, Zoladek T, Zong WX, Zorzano A, Zughaier SM.
    Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition).
    Autophagy. 2016 Jan 2;12(1):1-222.

2015年

  • Uruha A, Noguchi S, Hayashi YK, Tsuburaya RS , Yonekawa T, Nonaka I, Nishino I.
    Hepatitis C virus infection in inclusion body myositis: A case-control study.
    Neurology.2016 Jan 19;86(3):211-217. Epub 2015 Dec 18.
    (当該号の"Editorial"で取り上げられました)
  • Matsuda C, Kiyosue K, Nishino I, Goto Y, Hayashi YK.
    Dysferlinopathy Fibroblasts Are Defective in Plasma Membrane Repair.
    PLoS Curr. 2015 Oct 29;7.
  • Kawase K, Nishino I, Sugimoto M, Togawa T, Sugiura T, Kouwaki M, Kibe T, Koyama N, Yokochi K.
    Nemaline myopathy with KLHL40 mutation presenting as congenital totally locked-in state.
    Brain Dev.2015 Oct;37(9):887-890. Epub 2015 Feb 24.
  • Zhao Y, Ogawa H, Yonekura SI, Mitsuhashi H, Mitsuhashi S, Nishino I, Toyoshima C, Ishiura S.
    Functional analysis of SERCA1b, a highly expressed SERCA1 variant in myotonic dystrophy type 1 muscle.
    Biochim Biophys Acta.2015 Oct;1852(10 Pt A):2042-2047. Epub 2015 Jul 1
  • Liang WC, Zhu W, Mitsuhashi S, Noguchi S, Sacher M, Ogawa M, Shih HH, Jong YJ, Nishino I.
    Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype.
    Skelet Muscle. 2015 Aug 28;5:29.eCollection 2015.
  • Tanboon J, Viravan S, Hayashi YK, Nishino I, Sangruchi T.
    2 Month-Old Male with Hypotonia.
    Brain Pathol. 2015 Sep;25(5):651-652.
  • Hatakeyama H, Katayama A, Komaki H, Nishino I, Goto Y.
    Molecular pathomechanisms and cell-type-specific disease phenotypes of MELAS caused by mutant mitochondrial tRNA(Trp).
    Acta Neuropathol Commun. 2015 Aug 22;3(1):52.
  • Montassir H, Maegaki Y, Murayama K, Yamazaki T, Kohda M, Ohtake A, Iwasa H, Yatsuka Y, Okazaki Y, Sugiura C, Nagata I, Toyoshima M, Saito Y, Itoh M, Nishino I, Ohno K.
    Myocerebrohepatopathy spectrum disorder due to POLG mutations: A clinicopathological report.
    Brain Dev. 2015 Aug;37(7):719-724. Epub 2015 Mar 27.
  • Uruha A, Noguchi S, Sato W, Nishimura H, Mitsuhashi S, Yamamura T, Nishino I.
    Plasma IP-10 level distinguishes inflammatory myopathy.
    Neurology.2015 Jul 21;85(3):293-294. Epub 2015 Jul 1.
  • Kida H, Sano K, Yorita A, Miura S, Ayabe M, Hayashi YK, Nishino I, Taniwaki T.
    First Japanese case of muscular dystrophy caused by a mutation in the anoctamin 5 gene.
    Neurology and Clinical Neuroscience. 2015 Jul;3(4): 150-152, Epub 2015 Mar
  • Toyooka K, Kubo K, Fujimura H, Sakoda S, Tominaga K, Nishino I
    Family with centronuclear myopathy as a result of a novel p.R369G DNM2 mutation.
    Neurology and Clinical Neuroscience.2015 Jul;3(4): 161-162, Epub 2015 Mar
  • Kawasaki Y, Naba I, Azuma S, Yaka K, Moriya M, Nakano M, Nishino I, Tatsumi C.
    Case of dynamin 2 mutation-related sporadic centronuclear myopathy with peripheral neuropathy.
    Neurology and Clinical Neuroscience. 2015 Jul;3(4);131-133, Epub 2015 Mar
  • Furuta A, Kikuchi H, Fujita H, Yamada D, Fujiwara cY, Kabuta T, Nishino I, Wada K, Uchiyama Y.
    Property of lysosomal storage disease associated with midbrain pathology in the central nervous system of lamp-2-deficient mice.
    Am J Pathol. 2015 Jun;185(6):1713-1723.
  • Suzuki S, Nishikawa A, Kuwana M, Nishimura H, Watanabe Y, Nakahara J, Hayashi YK, Suzuki N, Nishino I.
    Inflammatory myopathy with anti-signal recognition particle antibodies: case series of 100 patients.
    Orphanet J Rare Dis. 2015 May 13;10(1):61.
  • Munteanu I, Ramachandran N, Ruggieri A, Awaya T, Nishino I, Minassian BA.
    Congenital autophagic vacuolar myopathy is allelic to X-linked myopathy with excessive autophagy.
    Neurology. 2015 Apr 21;84(16):1714-1716 Epub 2015 Mar 27.
  • Puppo F, Dionnet E, Gaillard MC, Gaildrat P, Castro C, Vovan C, Karine B, Bernard R, Attarian S, Goto K, Nishino I, Hayashi YK, Magdinier F, Krahn M, Helmbacher F, Bartoli M, Lévy N.
    Identification of variants in the 4q35 gene FAT1 in patients with a Facioscapulohumeral dystrophy (FSHD)-like phenotype.
    Hum Mutat. 2015 Apr;36(4):443-453. Epub 2015 Mar 19.
  • Uruha A, Hayashi YK, Oya Y, Mori -Yoshimura M, Kanai M, Murata M, Kawamura M, Ogata K, Matsumura T, Suzuki S, Takahashi Y, Kondo T, Kawarabayashi T, Ishii Y, Kokubun N, Yokoi S, Yasuda R, Kira JI, Mitsuhashi S, Noguchi S, Nonaka I, Nishino I.
    Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure.
    J Neurol Neurosurg Psychiatry. 2015 Apr;86(5): 483-489. Epub 2014 Sep 24.
  • Nishino I, Carrillo-Carrasco N, Argov Z.
    GNE myopathy: current update and future therapy.
    J Neurol Neurosurg Psychiatry. 2015 Apr;86(4):385-392. Epub 2014 Jul 7. Review.

  • Sanmaneechai O, Likasitwattanakul S, Sangruchi T, Nishino I.
    Ophthalmoplegi a in congenital neuromuscular disease with uniform type 1 fiber.
    Brain Dev. 2015 Apr;37(4):459-462. Epub 2014 Aug 8.
  • Watanabe Y, Suzuki S, Nishimura H, Murata KY, Kurashige T, Ikawa M, Asahi M, Konishi H, Mitsuma S, Kawabata S, Suzuki N, Nishino I.
    Statins and myotoxic effects associated with anti-3-hydroxy-3-methylglutaryl-coenzyme a reductase autoantibodies: an observational study in Japan.
    Medicine (Baltimore). 2015 Jan;94(4):e416.
  • Yonekawa T , Nishino I.
    Ullrich congen ital muscular dystrophy: clinicopathological features, natural history and pathomechanism(s).
    J Neurol Neurosurg Psychiatry. 2015 Mar;86(3):280-287. Epub 2014 Jun 17.

  • Endo Y, Furuta A, Nishino I. .
    Danon disease: a phenotypic expression of LAMP-2 deficiency.
    Acta Neuropathol. 2015 Mar;129(3):391-398. Epub 2015 Jan 15.
  • Ohsawa N, Koebis M, Mitsuhashi H, Nishino I, Ishiura S.
    ABLIM1 splicin g is abnormal in skeletal muscle of patients with DM1 and regulated by MBNL, CELF and PTBP1.
    Genes Cells. 2015 Feb;20(2):121-134. Epub 2014 Nov 18.
  • Endo Y, Noguchi S, Hara Y, Hayashi YK, Motomura K, Miyatake S, Murakami N, Tanaka S, Yamashita S, Kizu R, Bamba M, Goto YI, Matsumoto N, Nonaka I, Nishino I.
    Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca2+ channels.
    Hum Mol Genet. 2015 Feb 1;24(3):637-648. Epub 2014 Sep 16.
  • Tanboon J, Hayashi YK, Nishino I, Sangruchi T.
    Kyphoscoliosis and easy fatigability in a 14-year-old boy.
    Neuropathology. 2015 Feb;35(1):91-93. Epub 2014 Aug 28.
  • Kawase K, Nishino I, Sugimoto M, Kouwaki M, Koyama N, Yokochi K.
    Hypoxic ischemic encephalopathy in a case of intranuclear rod myopathy without any prenatal sentinel event.
    Brain Dev. 2015 Feb;37(2):265-269. Epub 2014 Apr 29.

  • Dong M, Noguchi S, Endo Y, Hayashi YK, Yoshida S, Nonaka I, Nishino I.
    DAG1 mutations associated with asymptomatic hyperCKemia and hypoglycosylation of α-dystroglycan.
    Neurology. 2015 Jan 20;84(3):273-279. Epub 2014 Dec 12.

ページのトップへ戻る


2014年

  • Furusawa Y, Mitsuhashi S, Mori-Yoshimura M, Shimada Y, Yamamoto T, Shibuya M, Shimizu J, Ohashi T, Saito Y, Nishino I, Oya Y, Murata M.
    Late-onset Pompe disease after 4 years of enzyme replacement therapy: An autopsy case.
    Neurology and Clinical Neuroscience. 2014 Jan: 2(1): 7-9
  • De Bleecker JL, De Paepe B, Aronica E, de Visser M; ENMC Myositis Muscle Biopsy Study Group, Amato A, Aronica E, Benveniste O, De Bleecker J, de Boer O, De Paepe B, de Visser M, Dimachkie M, Gherardi R, Goebel HH, Hilton-Jones D, Holton J, Lundberg IE, Mammen A, Mastaglia F, Nishino I, Rushing E, Daa Schroder H, Selcen D, Stenzel W.
    205th ENMC International Workshop: Pathology diagnosis of idiopathic inflammatory myopathies Part II 28-30 March 2014, Naarden, The Netherlands.
    Neuromuscul Disord. 2014 Dec 10.
  • Mori-Yoshimura M, Hayashi YK, Yonemoto N, Nakamura H, Murata M, Takeda SI, Nishino I, Kimura E.
    Nationwide patient registry for GNE myopathy in Japan.
    Orphanet J Rare Dis. 2014 Oct 11;9(1):150.
  • Falcone S, Roman W, Hnia K, Gache V, Didier N, Lainé J, Auradé F, Marty I, Nishino I, Charlet-Berguerand N, Romero NB, Marazzi G, Sassoon D, Laporte J, Gomes ER.
    N-WASP is required for Amphiphysin-2/BIN1-dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of centronuclear myopathy.
    EMBO Mol Med. 2014 Nov; 6(11):1455-1475. Epub 2014 Sep 28.
  • Ojima K, Ono Y, Hata S, Noguchi S, Nishino I, Sorimachi H.
    Muscle-specific calpain-3 is phosphorylated in its unique insertion region for enrichment in a myofibril fraction.
    Genes Cells. 2014 Nov;19(11):830-841. Epub 2014 Sep 24.
  • Yuen M, Sandaradura SA, Dowling JJ, Kostyukova AS, Moroz N, Quinlan KG, Lehtokari VL, Ravenscroft G, Todd EJ, Ceyhan-Birsoy O, Gokhin DS, Maluenda J, Lek M, Nolent F, Pappas CT, Novak SM, D'Amico A, Malfatti E, Thomas BP, Gabriel SB, Gupta N, Daly MJ, Ilkovski B, Houweling PJ, Davidson AE, Swanson LC, Brownstein CA, Gupta VA, Medne L, Shannon P, Martin N, Bick DP, Flisberg A, Holmberg E, Van den Bergh P, Lapunzina P, Waddell LB, Sloboda DD, Bertini E, Chitayat D, Telfer WR, Laquerrière A, Gregorio CC, Ottenheijm CA, Bönnemann CG, Pelin K, Beggs AH, Hayashi YK, Romero NB, Laing NG, Nishino I, Wallgren-Pettersson C, Melki J, Fowler VM, MacArthur DG, North KN, Clarke NF.
    Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.
    J Clin Invest. 2014 Nov 3; 124(11):4693-4708. Epub 2014 Sep 24.
  • Wada E, Yoshida M, Kojima Y, Nonaka I, Ohashi K, Nagata Y, Shiozuka M, Date M, Higashi T, Nishino I, Matsuda R.
    Dietary Phosphorus Overload Aggravates the Phenotype of the Dystrophin-Deficient mdx Mouse.
    Am J Pathol. 2014;184(11):3094-3104. Epub 2014 Aug 28.
  • Suzuki S, Yonekawa T, Kuwana M, Hayashi YK, Okazaki Y, Kawaguchi Y, Suzuki N, Nishino I.
    Clinical and histological findings associated with autoantibodies detected by RNA immunoprecipitation in inflammatory myopathies.
    J Neuroimmunol. 2014 Sep 15;274(1-2):202-208. Epub 2014 Jul 17.
  • Uchiyama SI, Nishino I, Izumi T.
    The muscle findings in a pediatric patient with live attenuated oral polio vaccine-related flaccid monoplegia.
    Vaccine. 2014 Sep 22;32(42):5379-5381. Epub 2014 Aug 12.
  • Saitsu H, Tohyama J, Walsh T, Kato M, Kobayashi Y, Lee M, Tsurusaki Y, Miyake N, Goto YI, Nishino I, Ohtake A, King MC, Matsumoto N.
    A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation.
    J Hum Genet . 2014 Oct;59(10):581-583. Epub 2014 Aug 7.
  • Yonekawa T, Malicdan MC, Cho A, Hayashi YK, Nonaka I, Mine T, Yamamoto T, Nishino I, Noguchi S.
    Sialyllactose ameliorates myopathic phenotypes in symptomatic GNE myopathy model mice.
    Brain. 2014 Oct;137(10):2670-2679. Epub 2014 Jul 24.
  • Fujii T, Hayashi S, Kawamura N, Higuchi MA, Tsugawa J, Ohyagi Y, Hayashi YK, Nishino I, Kira JI.
    A case of adult-onset reducing body myopathy presenting a novel clinical feature, asymmetrical involvement of the sternocleidomastoid and trapezius muscles.
    J Neurol Sci. 2014 Aug 15;343(1-2):206-210. Epub 2014 Jun 2.

  • Noguchi S, Ogawa M, Kawahara G, Malicdan MC, Nishino I.
    Allele-specific Gene Silencing of Mutant mRNA Restores Cellular Function in Ullrich Congenital Muscular Dystrophy Fibroblasts.
    Mol Ther Nucleic Acids.2014 Jun 24;3:e 171.

  • Miyatake S, Koshimizu E, Hayashi YK, Miya K, Shiina M, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Ogata K, Nishino I, Matsumoto N.
    Deep sequencing detects very-low-grade somatic mosaicism in the unaffected mother of siblings with nemaline myopathy.
    Neuromuscul Disord. 2014 Jul;24(7):642-647. Epub 2014 Apr 24.

  • Goto M, Okada M, Komaki H, Sugai K, Sasaki M, Noguchi S, Nonaka I, Nishino I, Hayashi YK.
    A nationwide survey on marinesco-sjogren syndrome in Japan.
    Orphanet J Rare Dis. 2014 Apr 23;9(1):58.

  • Merlini L, Nishino I ; Consortium for Autophagy in Muscular Dystrophies.
    201st ENMC International Workshop: Autophagy in muscular dystrophies - Translational approach, 1-3 November 2013, Bussum, The Netherlands.
    Neuromuscul Disord. 2014 Jun;24(6):546-561. Epub 2014 Mar 24.

  • Uezumi A, Fukada S, Yamamoto N, Ikemoto-Uezumi M, Nakatani M, Morita M, Yamaguchi A, Yamada H, Nishino I, Hamada Y, Tsuchida K.
    Identification and characterization of PDGFRα(+) mesenchymal progenitors in human skeletal muscle.
    Cell Death Dis. 2014 Apr 17;5:e1186.

  • Huizing M, Carrillo-Carrasco N, Malicdan MC, Noguchi S, Gahl WA, Mitrani-Rosenbaum S, Argov Z, Nishino I.
    GNE myopathy: New name and new mutation nomenclature.
    Neuromuscul Disord. 2014 May;24(5):387-389.

  • Sugiura T, Kawaguchi Y, Goto K, Hayashi YK, Gono T, Furuya T, Nishino I, Yamanaka H.
    Association between a C8orf13-BLK Polymorphism and Polymyositis/Dermatomyositis in the Japanese Population: An Additive Effect with STAT4 on Disease Susceptibility.
    PLoS One. 2014 Mar 14; 9(3):e90019.

  • Anada RP, Wong KT, Malicdan MC, Goh KJ, Hayashi YK, Nishino I, Noguchi S.
    Absence of beta-amyloid deposition in the central nervous system of a transgenic mouse model of distal myopathy with rimmed vacuoles.
    Amyloid. Jun;21(2):138-139. Epub 2014 Mar 7.

  • Kajino S, Ishihara K, Goto K, Ishigaki K, Noguchi S, Nonaka I, Osawa M, Nishino I, Hayashi YK.
    Congenital fiber type disproportion myopathy caused by LMNA mutations.
    J Neurol Sci. 2014 May 15;340(1-2):94-98. Epub 2014 Mar 5.

  • Mori-Yoshimura M, Oya Y, Yajima H, Yonemoto N, Kobayashi Y, Hayashi YK, Noguchi S, Nishino I, Murata M.
    GNE myopathy: A prospective natural history study of disease progression.
    Neuromuscul Disord. 2014 May;24(5):380-386. Epub 2014 Feb 28.

  • Uruha A, Nishino I.
    Think worldwide: hereditary myopathy with early respiratory failure (HMERF) may not be rare.
    J Neurol Neurosurg Psychiatry. 2014 Mar;85(3):248. Epub 2013 May 21.

  • Nakayama T, Nakamura H, Oya Y, Kimura T, Imahuku I, Ohno K, Nishino I, Abe K, Matsuura T.
    Clinical and genetic analysis of the first known Asian family with myotonic dystrophy type 2.
    J Hum Genet. 2014 Mar; 59(3):129-133.

  • Murata KY, Sugie H, Nishino I, Kondo T, Ito H.
    A primigravida with very-long chain acyl-CoA dehydrogenase deficiency.
    Muscle Nerve. 2014 Feb;49(2):295-296. Epub 2013 Aug.

  • Goto M, Komaki H, Saito T, Saito Y, Nakagawa E, Sugai K, Sasaki M, Nishino I, Goto Y.
    MELAS phenotype associated with m.3302A>G mutation in mitochondrial tRNALeu(UUR) gene.
    Brain Dev. 2014 Feb;36(2):180-182. Epub 2013 Apr 10.

ページのトップへ戻る


2013年

  • Gupta VA, Ravenscroft G, Shaheen R, Todd EJ, Swanson LC, Shiina M, Ogata K, Hsu C, Clarke NF, Darras BT, Farrar MA, Hashem A, Manton ND, Muntoni F, North KN, Sandaradura SA, Nishino I, Hayashi YK, Sewry CA, Thompson EM, Yau KS, Brownstein CA, Yu TW, Allcock RJ, Davis MR, Wallgren-Pettersson C, Matsumoto N, Alkuraya FS, Laing NG, Beggs AH.
    Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy.
    Am J Hum Genet. 2013 Dec 5;93(6):1108-1117. Epub 2013 Nov 21.

  • Fujimoto S, Manabe Y, Fujii D, Kozai Y, Matsuzono K, Takahashi Y, Narai H, Omori N, Adachi K, Nanba E, Nishino I, Abe K.
    A Novel Mutation of the GAA Gene in a Patient with Adult-onset Pompe Disease Lacking a Disease-specific Pathology.
    Intern Med. 2013;52(21):2461-2464.

  • Takeuchi F, Yonemoto N, Nakamura H, Shimizu R, Komaki H, Mori-Yoshimura M, Hayashi YK, Nishino I, Kawai M, Kimura E, Takeda S.
    Prednisolone improves walking in Japanese Duchenne muscular dystrophy patients.
    J Neurol. 2013 Dec;260(12):3023-3029. Epub 2013 Sep 22.

  • Cho A , Hayashi YK, Monma K, Oya Y, Noguchi S, Nonaka I, Nishino I.
    Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy).
    J Neurol Neurosurg Psychiatry. 2014 Aug;85(8):912-915. Epub 2013 Sep 11.

  • Motoki T, Fukuda M, Nakano T, Matsukage S, Fukui A, Akiyoshi S, Hayashi YK, Ishii E, Nishino I.
    Fatal hepatic hemorrhage by peliosis hepatis in X-linked myotubular myopathy: A case report.
    Neuromuscul Disord. 2013 Nov;23(11):917-921. Epub 2013 Sep 4.

  • Nalini A, Gayathri N, Nishino I, Hayashi YK.
    GNE myopathy in India.
    Neurol India. 2013 Jul-Aug;61(4):371-374.

  • Mitsuhashi S, Nishino I.
    Megaconial congenital muscular dystrophy due to loss-of-function mutations in choline kinase β.
    Curr Opin Neurol. 2013 Oct; 26(5):536-543

  • Liang WC, Nishino I.
    Riboflavin ‐responsive multiple acyl‐ CoA dehydrogenase deficiency: A frequent condition in Southern Chinese population.
    Neurology and Clinical Neuroscience. Sep, 2013 Sep; 1(5): 163-167

  • Koebis M, Kiyatake T, Yamaura H, Nagano K, Higashihara M, Sonoo M, Hayashi Y, Negishi Y, Endo-Takahashi Y, Yanagihara D, Matsuda R, Takahashi MP, Nishino I, Ishiura S.
    Ultrasound-enhanced delivery of Morpholino with Bubble liposomes ameliorates the myotonia of myotonic dystrophy model mice.
    Sci Rep. 2013 Jul 22;3:2242.

  • Kurashige T, Takahashi T, Yamazaki Y, Nagano Y, Kondo K, Nakamura T, Yamawaki T, Tsuburaya R, Hayashi YK, Nonaka I, Nishino I, Matsumoto M.
    Elevated urinary β2 microglobulin in the first identified Japanese family afflicted by X-linked myopathy with excessive autophagy.
    Neuromuscul Disord. 2013 Nov;23(11):911-916. Epub 2013 Jul 11.

  • Oana K, Oma Y, Suo S, Takahashi MP, Nishino I, Takeda S, Ishiura S.
    Manumycin A corrects aberrant splicing of Clcn1 in myotonic dystrophy type 1 (DM1) mice.
    Sci Rep. 2013 Jul 5;3:2142.

  • Chou PC, Liang WC, Nonaka I, Mitsuhashi S, Nishino I, Jong YJ.
    Intranuclear rods myopathy with autonomic dysfunction.
    Brain Dev. 2013 Aug;35(7):686-689. Epub 2012 Oct 25.

  • Ishiyama A, Komaki H, Saito T, Saito Y, Nakagawa E, Sugai K, Itagaki Y, Matsuzaki K, Nakura M, Nishino I, Goto YI, Sasaki M.
    Unusual exocrine complication of pancreatitis in mitochondrial disease.
    Brain Dev. 2013 Aug;35(7):654-659. Epub 2012 Nov 22.

  • Liang WC, Hayashi YK, Ogawa M, Wang CH, Huang WT, Nishino I, Jong YJ.
    Limb-girdle muscular dystrophy type 2I is not rare in Taiwan.
    Neuromuscul Disord. 2013 Aug;23(8):675-681. Epub 2013 Jun 22.

  • Nemazanyy I, Blaauw B, Paolini C, Caillaud C, Protasi F, Mueller A, Proikas-Cezanne T, Russell RC, Guan KL, Nishino I, Sandri M, Pende M, Panasyuk G.
    Defects of Vps15 in skeletal muscles lead to autophagic vacuolar myopathy and lysosomal disease.
    EMBO Mol Med. 2013 Jun; 5(6):870-90. Epub 2013 Apr 30.

  • Tanabe Y, Fujita E, Hayashi YK, Zhu X, Lubbert H, Mezaki Y, Senoo H, Momoi T.
    Synaptic adhesion molecules in Cadm family at the neuromuscular junction.
    Cell Biol Int. 2013 Jul; 37(7):731-736. Epub 2013 Apr 18.

  • Quinlivan R, Mitsuahashi S, Sewry C, Cirak S, Aoyama C, Mooore D, Abbs S, Robb S, Newton T, Moss C, Birchall D, Sugimoto H, Bushby K, Guglieri M, Muntoni F, Nishino I, Straub V.
    Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: Extending the clinical and pathological phenotype.
    Neuromuscul Disord. 2013 Jul;23(7):549-556. Epub 2013 May 18.

  • Ravenscroft G, Miyatake S, Lehtokari VL, Todd EJ, Vornanen P, Yau KS, Hayashi YK, Miyake N, Tsurusaki Y, Doi H, Saitsu H, Osaka H, Yamashita S, Ohya T, Sakamoto Y, Koshimizu E, Imamura S, Yamashita M, Ogata K, Shiina M, Bryson-Richardson RJ, Vaz R, Ceyhan O, Brownstein CA, Swanson LC, Monnot S, Romero NB, Amthor H, Kresoje N, Sivadorai P, Kiraly-Borri C, Haliloglu G, Talim B, Orhan D, Kale G, Charles AK, Fabian VA, Davis MR, Lammens M, Sewry CA, Manzur A, Muntoni F, Clarke NF, North KN, Bertini E, Nevo Y, Willichowski E, Silberg IE, Topaloglu H, Beggs AH, Allc ock RJ, Nishino I, Wallgren-Pettersson C, Matsumoto N, Laing NG.
    Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy.
    Am J Hum Genet. 2013 Jul 11;93(1):6-18. Epub 2013 Jun 6.

  • Matsuura T, Kurosaki T, Omote Y, Minami N, Hayashi YK, Nishino I, Abe K.
    Exome sequencing as a diagnostic tool to identify a causal mutation in genetically highly heterogeneous limb-girdle muscular dystrophy.
    J Hum Genet. 2013 Aug;58(8):564-565. Epub 2013 May 16.

  • Nakamura H, Kimura E, Mori-Yoshimura M, Komaki H, Matsuda Y, Goto K, Hayashi YK, Nishino I, Takeda SI, Kawai M.
    Characteristics of Japanese Duchenne and Becker muscular dystrophy patients in a novel Japanese national registry of muscular dystrophy (Remudy).
    Orphanet J Rare Dis. 2013 Apr 19;8(1):60. [Epub ahead of print]

  • Cho A, Noguchi S.
    Autophagy in GNE myopathy.
    Autophagy – A Double-Edged Sword – Cell Survival or Death? (Ed. Yannick Bailly), InTech, Croatia, pp141-161, Apr, 2013

  • Wang CH, Liang WC, Minami N, Nishino I, Jong YJ.
    Limb-girdle Muscular Dystrophy Type 2A with Mutation in CAPN3: The First Report in Taiwan.
    Pediatr Neonatol. 2015 Feb;56(1):62-5. Epub 2013 Mar 7

  • Yonekawa T, Komaki H, Okada M, Hayashi YK, Nonaka I, Sugai K, Sasaki M, Nishino I
    Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy.
    J Neurol Neurosurg Psychiatry. 2013 Sep;84(9):982-988. Epub 2013 Apr 9.

  • Fischer C, Kleinschnitz K, Wrede A, Muth I, Kruse N, Nishino I, Schmidt J.
    Cell stress molecules in the skeletal muscle of GNE myopathy.
    BMC Neurol. 2013 Mar 12;13(1):24. Epub 2013 Mar 12.

  • Murakami N, Hayashi YK, Oto Y, Shiraishi M, Itabashi H, Kudo K, Nishino I, Nonaka I, Nagai T.
    Congenital generalized lipodystrophy type 4 with muscular dystrophy: Clinical and pathological manifestations in early childhood.
    Neuromuscul Disord. 2013 May;23(5):441-444. Epub 2013 Mar 13.

  • Chen TH, Lai YH, Lee PL, Hsu JH, Goto K, Hayashi YK, Nishino I, Lin CW, Shih HH, Huang CC, Liang WC, Wang WF, Jong YJ.
    Infantile facioscapulohumeral muscular dystrophy revisited: Expansion of clinical phenotypes in patients with a very short EcoRI fragment.
    Neuromuscul Disord. 2013 Apr;23(4):298-305. Epub 2013 Feb 21.

  • Sato T, Hayashi YK, Oya Y, Kondo T, Sugie K, Kaneda D, Houzen H, Yabe I, Sasaki H, Noguchi S, Nonaka I, Osawa M, Nishino I.
    DNAJB6 myopathy in an Asian cohort and cytoplasmic/nuclear inclusions.
    Neuromuscul Disord. 2013 Mar;23(3):269-276. Epub 2013 Feb 6.

  • Liang WC, Nishino I.
    Daily or alternative, that is the question: steroid therapy for Duchenne muscular dystrophy patients.
    J Neurol Neurosurg Psychiatry. 2013 Jun;84(6):591. Epub 2013 Jan 25.

  • Stenzel W, Nishino I, von Moers A, Kadry MA, Glaeser D, Heppner FL, Goebel HH.
    Juvenile autophagic vacuolar myopathy- a new entity or variant?
    Neuropathol Appl Neurobiol. 2013 Jun;39(4):449-453.

  • Ramachandran N, Munteanu I, Wang P, Ruggieri A, Rilstone JJ, Israelian N, Naranian T, Paroutis P, Guo R, Ren ZP, Nishino I, Chabrol B, Pellissier JF, Minetti C, Udd B, Fardeau M, Tailor CS, Mahuran DJ, Kissel JT, Kalimo H, Levy N, Manolson MF, Ackerley CA, Minassian BA.
    VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy.
    Acta Neuropathol. 2013 Mar;125(3):439-457. Epub 2013 Jan 12.

  • Furuta A, Wakabayashi K, Haratake J, Kikuchi H, Kabuta T, Mori F, Tokonami F, Katsumi Y, Tanioka F, Uchiyama Y, Nishino I, Wada K.
    Lysosomal storage and advanced senescence in the brain of LAMP-2-deficient Danon disease.
    Acta Neuropathol. 2013 Mar;125(3):459-461. Epub 2012 Dec 23.

  • Kakisaka Y, Haginoya K, Takahashi Y, Ochiai T, Fujiwara I, Kikuchi A, Wakusawa K, Kobayashi S, Kikuchi H, Ichihara Y, Takahashi S, Nishino I.
    Additional evidence that the ryanodine receptor gene (RYR1) causes malignant hyperthermia and severe skeletal malformations.
    Am J Med Genet A. 2013 Jan;161(1):234-235. Epub 2012 Dec 13.

  • Mori-Yoshimura M, Oya Y, Hayashi YK, Noguchi S, Nishino I, Murata M.
    Respiratory dysfunction in patients severely affected by GNE myopathy (distal myopathy with rimmed vacuoles).
    Neuromuscul Disord. 2013 Jan;23(1):84-88. Epub 2012 Nov 2.

ページのトップへ戻る


2012年

  • Momma K, Noguchi S, Malicdan MC, Hayashi YK, Minami N, Kamakura K, Nonaka I, Nishino I.
    Rimmed vacuoles in becker muscular dystrophy have similar features with inclusion myopathies.
    PLoS One. 2012;7(12):e52002. Epub 2012 Dec 14.

  • Matsuda C, Miyake K, Kameyama K, Keduka E, Takeshima H, Imamura T, Araki N, Nishino I, Hayashi Y.
    The C2A domain in dysferlin is important for association with MG53 (TRIM72).
    PLoS Curr. 4:e5035add8caff4. Nov, 2012.

  • Sangatsuda Y, Nakamura M, Tomiyasu A, Deguchi A, Toyota Y, Goto YI, Nishino I, Ueno SI, Sano A.
    Heteroplasmic m.1624C>T mutation of the mitochondrial tRNA(Val) gene in a proband and his mother with repeated consciousness disturbances.
    Mitochondrion. 2012 Nov;12(6): 617-622.

  • Klionsky DJ, Abdalla FC, Abeliovich H, Abraham RT, Acevedo-Arozena A, Adeli K, Agholme L, Agnello M, Agostinis P, Aguirre-Ghiso JA, Ahn HJ, Ait-Mohamed O, Ait-Si-Ali S, Akematsu T, Akira S, Al-Younes HM, Al-Zeer MA, Albert ML, Albin RL, Alegre-Abarrategui J, Aleo MF, Alirezaei M, Almasan A, Almonte-Becerril M, Amano A, Amaravadi R, Amarnath S, Amer AO, Andrieu-Abadie N, Anantharam V, Ann DK, Anoopkumar-Dukie S, Aoki H, Apostolova N, Auberger P, Baba M, Backues SK, Baehrecke EH, Bah r BA, Bai XY, Bailly Y, Baiocchi R, Baldini G, Balduini W, Ballabio A, Bamber BA, Bampton ET, Bánhegyi G, Bartholomew CR, Bassham DC, Bast RC Jr, Batoko H, Bay BH, Beau I, Béchet DM, Begley TJ, Behl C, Behrends C, Bekri S, Bellaire B, Bendall LJ, Benetti L, Berliocchi L, Bernardi H, Bernassola F, Besteiro S, Bhatia-Kissova I, Bi X, Biard-Piechaczyk M, Blum JS, Boise LH, Bonaldo P, Boone DL, Bornhauser BC, Bortoluci KR, Bossis I, Bost F, Bourquin JP, Boya P, Boyer-Guittaut M, Bozhko v PV, Brady NR, Brancolini C, Brech A, Brenman JE, Brennand A, Bresnick EH, Brest P, Bridges D, Bristol ML, Brookes PS, Brown EJ, Brumell JH, Brunetti-Pierri N, Brunk UT, Bulman DE, Bultman SJ, Bultynck G, Burbulla LF, Bursch W, Butchar JP, Buzgariu W, Bydlowski SP, Cadwell K, Cahová M, Cai D, Cai J, Cai Q, Calabretta B, Calvo-Garrido J, Camougrand N, Campanella M, Campos-Salinas J, Candi E, Cao L, Caplan AB, Carding SR, Cardoso SM, Carew JS, Carlin CR, Carmignac V, Carneiro LA, Carra S, Caruso RA, Casari G, Casas C, Castino R, Cebollero E, Cecconi F, Celli J, Chaachouay H, Chae HJ, Chai CY, Chan DC, Chan EY, Chang RC, Che CM, Chen CC, Chen GC, Chen GQ, Chen M, Chen Q, Chen SS, Chen W, Chen X, Chen X, Chen X, Chen YG, Chen Y, Chen Y, Chen YJ, Chen Z, Cheng A, Cheng CH, Cheng Y, Cheong H, Cheong JH, Cherry S, Chess-Williams R, Cheung ZH, Chevet E, Chiang HL, Chiarelli R, Chiba T, Chin LS, Chiou SH, Chisari FV, Cho CH, Cho DH, Choi AM, Choi D, Choi KS, Choi ME, Chouaib S, Choubey D, Choubey V, Chu CT, Chuang TH, Chueh SH, Chun T, Chwae YJ, Chye ML, Ciarcia R, Ciriolo MR, Clague MJ, Clark RS, Clarke PG, Clarke R, Codogno P, Coller HA, Colombo MI, Comincini S, Condello M, Condorelli F, Cookson MR, Coombs GH, Coppens I, Corbalan R, Cossart P, Costelli P, Costes S, Coto-Montes A, Couve E, Coxon FP, Cregg JM, Crespo JL, Cronjé MJ, Cuervo AM, Cullen JJ, Czaja MJ, D'Amelio M, Darfeuille-Michaud A, Davids LM, Davies FE, De Felici M, de Groot JF, de Haan CA, De Martino L, De Milito A, De Tata V, Debnath J, Degterev A, Dehay B, Delbridge LM, Demarchi F, Deng YZ, Dengjel J, Dent P, Denton D, Deretic V, Desai SD, Devenish RJ, Di Gioacchino M, Di Paolo G, Di Pietro C, Díaz-Araya G, Díaz-Laviada I, Diaz-Meco MT, Diaz-Nido J, Dikic I, Dinesh-Kumar SP, Ding WX, Distelhorst CW, Diwan A, Djavaheri-Mergny M, Dokudovskaya S, Dong Z, Dorsey FC, Dosenko V, Dowling JJ, Doxsey S, Dreux M, Drew ME, Duan Q, Duchosal MA, Duff K, Dugail I, Durbeej M, Duszenko M, Edels tein CL, Edinger AL, Egea G, Eichinger L, Eissa NT, Ekmekcioglu S, El-Deiry WS, Elazar Z, Elgendy M, Ellerby LM, Eng KE, Engelbrecht AM, Engelender S, Erenpreisa J, Escalante R, Esclatine A, Eskelinen EL, Espert L, Espina V, Fan H, Fan J, Fan QW, Fan Z, Fang S, Fang Y, Fanto M, Fanzani A, Farkas T, Farré JC, Faure M, Fechheimer M, Feng CG, Feng J, Feng Q, Feng Y, Fésüs L, Feuer R, Figueiredo-Pereira ME, Fimia GM, Fingar DC, Finkbeiner S, Finkel T, Finley KD, Fiorito F, Fisher EA, Fisher PB, Flajolet M, Florez-McClure ML, Florio S, Fon EA, Fornai F, Fortunato F, Fotedar R, Fowler DH, Fox HS, Franco R, Frankel LB, Fransen M, Fuentes JM, Fueyo J, Fujii J, Fujisaki K, Fujita E, Fukuda M, Furukawa RH, Gaestel M, Gailly P, Gajewska M, Galliot B, Galy V, Ganesh S, Ganetzky B, Ganley IG, Gao FB, Gao GF, Gao J, Garcia L, Garcia-Manero G, Garcia-Marcos M, Garmyn M, Gartel AL, Gatti E, Gautel M, Gawriluk TR, Gegg ME, Geng J, Germain M, Gestwicki JE, Gewirtz DA, Ghavami S, Ghosh P, Giammarioli AM, Giatromanolaki AN, Gibson SB, Gilkerson RW, Ginger ML, Goncu E, Gongora C, Gonzalez CD, Gonzalez R, González-Estévez C, González-Polo RA, Gonzalez-Rey E, Gorbunov NV, Gorski S, Goruppi S, Gottlieb RA, Gozuacik D, Granato GE, Grant GD, Green KN, Gregorc A, Gros F, Grose C, Grunt TW, Gual P, Guan JL, Guan KL, Guichard SM, Gukovskaya AS, Gukovsky I, Gunst J, Gustafsson AB, Halayko AJ, Hale AN, Halonen SK, Hamasaki M, Han F, Han T, Hancock MK, Hansen M, Harad a H, Harada M, Hardt SE, Harper JW, Harris AL, Harris J, Harris SD, Hébert MJ, Heidenreich KA, Helfrich MH, Helgason GV, Henske EP, Herman B, Herman PK, Hetz C, Hilfiker S, Hill JA, Hocking LJ, Hofman P, Hofmann TG, Höhfeld J, Holyoake TL, Hong MH, Hood DA, Hotamisligil GS, Houwerzijl EJ, Høyer-Hansen M, Hu B, Hu CA, Hu HM, Hua Y, Huang C, Huang J, Huang S, Huang WP, Huber TB, Huh WK, Hung TH, Hupp TR, Hur GM, Hurley JB, Hussain SN, Hussey PJ, Hwang JJ, Hwang S, Ichihara A, Il khanizadeh S, Inoki K, Into T, Iovane V, Iovanna JL, Ip NY, Isaka Y, Ishida H, Isidoro C, Isobe K, Iwasaki A, Izquierdo M, Izumi Y, Jaakkola PM, Jäättelä M, Jackson GR, Jackson WT, Janji B, Jendrach M, Jeon JH, Jeung EB, Jiang H, Jiang H, Jiang JX, Jiang M, Jiang Q, Jiang X, Jiang X, Jiménez A, Jin M, Jin S, Joe CO, Johansen T, Johnson DE, Johnson GV, Jones NL, Joseph B, Joseph SK, Joubert AM, Juhász G, Juillerat-Jeanneret L, Jung CH, Jung YK, Kaarniranta K, Kaasik A , Kabuta T, Kadowaki M, Kagedal K, Kamada Y, Kaminskyy VO, Kampinga HH, Kanamori H, Kang C, Kang KB, Kang KI, Kang R, Kang YA, Kanki T, Kanneganti TD, Kanno H, Kanthasamy AG, Kanthasamy A, Karantza V, Kaushal GP, Kaushik S, Kawazoe Y, Ke PY, Kehrl JH, Kelekar A, Kerkhoff C, Kessel DH, Khalil H, Kiel JA, Kiger AA, Kihara A, Kim DR, Kim DH, Kim DH, Kim EK, Kim HR, Kim JS, Kim JH, Kim JC, Kim JK, Kim PK, Kim SW, Kim YS, Kim Y, Kimchi A, Kimmelman AC, King JS, Kinsella TJ, Kirkin V, Kirshenbaum LA, Kitamoto K, Kitazato K, Klein L, Klimecki WT, Klucken J, Knecht E, Ko BC, Koch JC, Koga H, Koh JY, Koh YH, Koike M, Komatsu M, Kominami E, Kong HJ, Kong WJ, Korolchuk VI, Kotake Y, Koukourakis MI, Kouri Flores JB, Kovács AL, Kraft C, Krainc D, Krämer H, Kretz-Remy C, Krichevsky AM, Kroemer G, Krüger R, Krut O, Ktistakis NT, Kuan CY, Kucharczyk R, Kumar A, Kumar R, Kumar S, Kundu M, Kung HJ, Kurz T, Kwon HJ, La Spada AR, Lafont F, Lamark T, Landry J, Lane JD, Lapaquette P, Laport e JF, László L, Lavandero S, Lavoie JN, Layfield R, Lazo PA, Le W, Le Cam L, Ledbetter DJ, Lee AJ, Lee BW, Lee GM, Lee J, Lee JH, Lee M, Lee MS, Lee SH, Leeuwenburgh C, Legembre P, Legouis R, Lehmann M, Lei HY, Lei QY, Leib DA, Leiro J, Lemasters JJ, Lemoine A, Lesniak MS, Lev D, Levenson VV, Levine B, Levy E, Li F, Li JL, Li L, Li S, Li W, Li XJ, Li YB, Li YP, Liang C, Liang Q, Liao YF, Liberski PP, Lieberman A, Lim HJ, Lim KL, Lim K, Lin CF, Lin FC, Lin J, Lin JD, Lin K, Lin WW, Lin WC, Lin YL, Linden R, Lingor P, Lippincott-Schwartz J, Lisanti MP, Liton PB, Liu B, Liu CF, Liu K, Liu L, Liu QA, Liu W, Liu YC, Liu Y, Lockshin RA, Lok CN, Lonial S, Loos B, Lopez-Berestein G, López-Otín C, Lossi L, Lotze MT, Lőw P, Lu B, Lu B, Lu B, Lu Z, Luciano F, Lukacs NW, Lund AH, Lynch-Day MA, Ma Y, Macian F, MacKeigan JP, Macleod KF, Madeo F, Maiuri L, Maiuri MC, Malagoli D, Malicdan MC, Malorni W, Man N, Mandelkow EM, Manon S, Manov I, Mao K, Mao X, Mao Z, Maramb aud P, Marazziti D, Marcel YL, Marchbank K, Marchetti P, Marciniak SJ, Marcondes M, Mardi M, Marfe G, Mariño G, Markaki M, Marten MR, Martin SJ, Martinand-Mari C, Martinet W, Martinez-Vicente M, Masini M, Matarrese P, Matsuo S, Matteoni R, Mayer A, Mazure NM, McConkey DJ, McConnell MJ, McDermott C, McDonald C, McInerney GM, McKenna SL, McLaughlin B, McLean PJ, McMaster CR, McQuibban GA, Meijer AJ, Meisler MH, Meléndez A, Melia TJ, Melino G, Mena MA, Menendez JA, Menna-Barreto RF, M enon MB, Menzies FM, Mercer CA, Merighi A, Merry DE, Meschini S, Meyer CG, Meyer TF, Miao CY, Miao JY, Michels PA, Michiels C, Mijaljica D, Milojkovic A, Minucci S, Miracco C, Miranti CK, Mitroulis I, Miyazawa K, Mizushima N, Mograbi B, Mohseni S, Molero X, Mollereau B, Mollinedo F, Momoi T, Monastyrska I, Monick MM, Monteiro MJ, Moore MN, Mora R, Moreau K, Moreira PI, Moriyasu Y, Moscat J, Mostowy S, Mottram JC, Motyl T, Moussa CE, Müller S, Muller S, Münger K, Münz C, Murphy LO, Murphy ME, Musarò A, Mysorekar I, Nagata E, Nagata K, Nahimana A, Nair U, Nakagawa T, Nakahira K, Nakano H, Nakatogawa H, Nanjundan M, Naqvi NI, Narendra DP, Narita M, Navarro M, Nawrocki ST, Nazarko TY, Nemchenko A, Netea MG, Neufeld TP, Ney PA, Nezis IP, Nguyen HP, Nie D, Nishino I, Nislow C, Nixon RA, Noda T, Noegel AA, Nogalska A, Noguchi S, Notterpek L, Novak I, Nozaki T, Nukina N, Nürnberger T, Nyfel er B, Obara K, Oberley TD, Oddo S, Ogawa M, Ohashi T, Okamoto K, Oleinick NL, Oliver FJ, Olsen LJ, Olsson S, Opota O, Osborne TF, Ostrander GK, Otsu K, Ou JH, Ouimet M, Overholtzer M, Ozpolat B, Paganetti P, Pagnini U, Pallet N, Palmer GE, Palumbo C, Pan T, Panaretakis T, Pandey UB, Papackova Z, Papassideri I, Paris I, Park J, Park OK, Parys JB, Parzych KR, Patschan S, Patterson C, Pattingre S, Pawelek JM, Peng J, Perlmutter DH, Perrotta I, Perry G, Pervaiz S, Peter M, Peters GJ, Petersen M, Pet rovski G, Phang JM, Piacentini M, Pierre P, Pierrefite-Carle V, Pierron G, Pinkas-Kramarski R, Piras A, Piri N, Platanias LC, Pöggeler S, Poirot M, Poletti A, Poüs C, Pozuelo-Rubio M, Prætorius-Ibba M, Prasad A, Prescott M, Priault M, Produit-Zengaffinen N, Progulske-Fox A, Proikas-Cezanne T, Przedborski S, Przyklenk K, Puertollano R, Puyal J, Qian SB, Qin L, Qin ZH, Quaggin SE, Raben N, Rabinowich H, Rabkin SW, Rahman I, Rami A, Ramm G, Randall G, Randow F, Rao VA, Rathmell JC, Ravikumar B, Ray SK, Reed BH, Reed JC, Reggiori F, Régnier-Vigouroux A, Reichert AS, Reiners JJ Jr, Reiter RJ, Ren J, Revuelta JL, Rhodes CJ, Ritis K, Rizzo E, Robbins J, Roberge M, Roca H, Roccheri MC, Rocchi S, Rodemann HP, Rodríguez de Córdoba S, Rohrer B, Roninson IB, Rosen K, Rost-Roszkowska MM, Rouis M, Rouschop KM, Rovetta F, Rubin BP, Rubinsztein DC, Ruckdeschel K, Rucker EB 3rd, Rudich A, Rudolf E, Ruiz-Opazo N, Russo R, Rusten TE, Ryan KM, Ryter SW, Sabatini DM, Sa doshima J, Saha T, Saitoh T, Sakagami H, Sakai Y, Salekdeh GH, Salomoni P, Salvaterra PM, Salvesen G, Salvioli R, Sanchez AM, Sánchez-Alcázar JA, Sánchez-Prieto R, Sandri M, Sankar U, Sansanwal P, Santambrogio L, Saran S, Sarkar S, Sarwal M, Sasakawa C, Sasnauskiene A, Sass M, Sato K, Sato M, Schapira AH, Scharl M, Schätzl HM, Scheper W, Schiaffino S, Schneider C, Schneider ME, Schneider-Stock R, Schoenlein PV, Schorderet DF, Schüller C, Schwartz GK, Scorrano L, Se aly L, Seglen PO, Segura-Aguilar J, Seiliez I, Seleverstov O, Sell C, Seo JB, Separovic D, Setaluri V, Setoguchi T, Settembre C, Shacka JJ, Shanmugam M, Shapiro IM, Shaulian E, Shaw RJ, Shelhamer JH, Shen HM, Shen WC, Sheng ZH, Shi Y, Shibuya K, Shidoji Y, Shieh JJ, Shih CM, Shimada Y, Shimizu S, Shintani T, Shirihai OS, Shore GC, Sibirny AA, Sidhu SB, Sikorska B, Silva-Zacarin EC, Simmons A, Simon AK, Simon HU, Simone C, Simonsen A, Sinclair DA, Singh R, Sinha D, Sinicrope FA, Sirko A, Siu PM, Sivridis E, Skop V, Skulachev VP, Slack RS, Smaili SS, Smith DR, Soengas MS, Soldati T, Song X, Sood AK, Soong TW, Sotgia F, Spector SA, Spies CD, Springer W, Srinivasula SM, Stefanis L, Steffan JS, Stendel R, Stenmark H, Stephanou A, Stern ST, Sternberg C, Stork B, Strålfors P, Subauste CS, Sui X, Sulzer D, Sun J, Sun SY, Sun ZJ, Sung JJ, Suzuki K, Suzuki T, Swanson MS, Swanton C, Sweeney ST, Sy LK, Szabadkai G, Tabas I, Taegtmeyer H, Tafani M, Takács-Vellai K, Takano Y, Takegawa K , Takemura G, Takeshita F, Talbot NJ, Tan KS, Tanaka K, Tanaka K, Tang D, Tang D, Tanida I, Tannous BA, Tavernarakis N, Taylor GS, Taylor GA, Taylor JP, Terada LS, Terman A, Tettamanti G, Thevissen K, Thompson CB, Thorburn A, Thumm M, Tian F, Tian Y, Tocchini-Valentini G, Tolkovsky AM, Tomino Y, Tönges L, Tooze SA, Tournier C, Tower J, Towns R, Trajkovic V, Travassos LH, Tsai TF, Tschan MP, Tsubata T, Tsung A, Turk B, Turner LS, Tyagi SC, Uchiyama Y, Ueno T, Umekawa M, Umemiya-Shirafuji R, Unni VK, Vaccaro MI, Valente EM, Van den Berghe G, van der Klei IJ, van Doorn W, van Dyk LF, van Egmond M, van Grunsven LA, Vandenabeele P, Vandenberghe WP, Vanhorebeek I, Vaquero EC, Velasco G, Vellai T, Vicencio JM, Vierstra RD, Vila M, Vindis C, Viola G, Viscomi MT, Voitsekhovskaja OV, von Haefen C, Votruba M, Wada K, Wade-Martins R, Walker CL, Walsh CM, Walter J, Wan XB, Wang A, Wang C, Wang D, Wang F, Wang F, Wang G, Wang H, Wang HG, Wang HD, Wang J, Wang K, Wang M, Wang RC, Wang X, Wang X, Wang YJ, Wang Y, Wang Z, Wang ZC, Wang Z, Wansink DG, Ward DM, Watada H, Waters SL, Webster P, Wei L, Weihl CC, Weiss WA, Welford SM, Wen LP, Whitehouse CA, Whitton JL, Whitworth AJ, Wileman T, Wiley JW, Wilkinson S, Willbold D, Williams RL, Williamson PR, Wouters BG, Wu C, Wu DC, Wu WK, Wyttenbach A, Xavier RJ, Xi Z, Xia P, Xiao G, Xie Z, Xie Z, Xu DZ, Xu J, Xu L, Xu X, Yamamoto A, Yamamoto A, Yamashina S, Yamashita M, Yan X, Yanagida M, Yang DS, Yang E, Yang JM, Yang SY, Yang W, Yang WY, Yang Z, Yao MC, Yao TP, Yeganeh B, Yen WL, Yin JJ, Yin XM, Yoo OJ, Yoon G, Yoon SY, Yorimitsu T, Yoshikawa Y, Yoshimori T, Yoshimoto K, You HJ, Youle RJ, Younes A, Yu L, Yu L, Yu SW, Yu WH, Yuan ZM, Yue Z, Yun CH, Yuzaki M, Zabirnyk O, Silva-Zacarin E, Zacks D, Zacksenhaus E, Zaffaroni N, Zakeri Z, Zeh HJ 3rd, Zeitlin SO, Zhang H, Zhang HL, Zhang J, Zhang JP, Zhang L, Zhang L, Zhang MY, Zhang XD, Zhao M, Zhao YF, Zhao Y, Zhao ZJ, Zheng X, Zhivotovsky B, Zhong Q, Zhou CZ, Zhu C, Zhu WG, Zhu XF, Zhu X , Zhu Y, Zoladek T, Zong WX, Zorzano A, Zschocke J, Zuckerbraun B.
    Guidelines for the use and interpretation of assays for monitoring autophagy.
    Autophagy. 2012 Apr;8(4):445-544.

  • Ikeda-Sakai Y, Manabe Y, Fujii D, Kono S, Narai H, Omori N, Nishino I, Abe K.
    Novel Mutations of the GNE Gene in Distal Myopathy with Rimmed Vacuoles Presenting with Very Slow Progression.
    Case Rep Neurol. 2012 May;4(2):120-125. Epub 2012 Jul 24.

  • Sugie K, Hayashi YK, Goto K, Nishino I, Ueno S.
    Teaching NeuroImages: Unilateral arm and contralateral leg amyotrophy in FSHD: Unusual presentation.
    Neurology. 2012 Jul 31;79(5):e46. No abstract available.

  • Biancalana V, Beggs AH, Das S, Jungbluth H, Kress W, Nishino I, North K, Romero NB, Laporte J.
    Clinical utility gene card for: Centronuclear and myotubular myopathies.
    Eur J Hum Genet. 2012 Oct;20(10). Epub 2012 May 23.

  • Mori-Yoshimura M, Okuma A, Oya Y, Fujimura-Kiyono C, Nakajima H, Matsuura K, Takemura A, Malicdan MC, Hayashi YK, Nonaka I, Murata M, Nishino I.
    Clinicopathological features of centronuclear myopathy in Japanese populations harboring mutations in dynamin 2.
    Clin Neurol Neurosurg. 2012 Jul;114(6):678-683. Epub 2012 May 19.

  • Komagamine T, Kawai M, Kokubun N, Miyatake S, Ogata K, Hayashi YK , Nishino I, Hirata K.
    Selective muscle involvement in a family affected by a second LIM domain mutation of fhl1: An imaging study using computed tomography.
    J Neurol Sci. 2012 Jul 15;318(1-2):163-167. Epub 2012 Apr 27.

  • Mori-Yoshimura M, Monma K, Suzuki N, Aoki M, Kumamoto T, Tanaka K, Tomimitsu H, Nakano S, Sonoo M, Shimizu J, Sugie K, Nakamura H,Oya Y, Hayashi YK, Malicdan MC, Noguchi S, Murata M, Nishino I.
    Heterozygous UDP-GlcNAc 2-epimerase and N-acetylmannosamine kinase domain mutations in the GNE gene result in a less severe GNE myopathy phenotype compared to homozygous N-acetylmannosamine kinase domain mutations.
    J Neurol Sci. 2012 Jul 15;318(1-2):100-105. Epub 2012 Apr 14.

  • Kawabata T, Komaki H, Saito T, Saito Y, Nakagawa E, Sugai K, Sasaki M, Hayashi YK, Nishino I, Momomura M, Kizawa T, Imagawa T, Yokota S.
    A pediatric patient with myopathy associated with antibodies to a signal recognition particle.
    Brain Dev. 2012 Nov;34(10):877-880.Epub 2012 Mar 19.

  • Kondo E, Nishimura T, Kosho T, Inaba Y, Mitsuhashi S, Ishida T, Baba A, Koike K, Nishino I, Nonaka I, Furukawa T, Saito K.
    Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing.
    Am J Med Genet A. 2012 Apr;158A(4):772-778. Epub 2012 Mar 9.

  • Sugiura T, Kawaguchi Y, Goto K, Hayashi YK, Tsuburaya R, Furuya T, Gono T, Nishino I, Yamanaka H.
    Positive association between STAT4 polymorphisms and polymyositis / dermatomyositis in a Japanese population.
    Ann Rheum Dis. 2012 Oct;71(10):1646-1650. Epub 2012 Mar 8.

  • Boyden SE, Mahoney LJ, Kawahara G, Myers JA, Mitsuhashi S, Estrella EA, Duncan AR, Dey F, Dechene ET, Blasko-Goehringer JM, Bönnemann CG, Darras BT, Mendell JR, Lidov HG, Nishino I, Beggs AH, Kunkel LM, Kang PB.
    Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores.
    Neurogenetics. 2012 May;13(2):115-124. Epub 2012 Feb 28.

  • Keduka E, Hayashi YK, Shalaby S, Mitsuhashi H, Noguchi S, Nonaka I, Nishino I.
    In Vivo Characterization of Mutant Myotilins.
    Am J Pathol. 2012 Apr;180(4):1570-1580. Epub 2012 Feb 18.

  • Kawashima H, Watanabe K, Morishima Y, Ioi H, Kashiwagi Y, Miyajima T, Takekuma K, Nishino I, Numabe H.
    High concentration of middle chain fatty acid in a case of Duchenne muscular dystrophy with severe mental retardation.
    Pediatr Int. 2012 Feb; 54(1):137-140.

  • Sato S, Ohi T, Nishino I, Sugie H.
    Confirmation of the efficacy of vitamin B6 supplementation for McArdle disease by follow-up muscle biopsy.
    Muscle Nerve. 2012 Mar;45:436-440.

  • Suzuki S, Hayashi YK, Kuwana M, Tsuburaya R, Suzuki N, Nishino I.
    Myopathy Associated With Antibodies to Signal Recognition Particle: Disease Progression and Neurological Outcome.
    Arch Neurol.2012 Jun;69(6):728-732.

  • Matsuura T, Minami N, Arahata H, Ohno K, Abe K, Hayashi YK, Nishino I.
    Myotonic dystrophy type 2 is rare in the Japanese population.
    J Hum Genet. 2012 Mar;57(3):219-220. Epub 2012 Jan 19.

  • Hattori A, Komaki H, Kawatani M, Sakuma H, Saito Y, Nakagawa E, Sugai K, Sasaki M, Hayashi YK, Nonaka I, Nishino I.
    A novel mutation in the LMNA gene causes congenital muscular dystrophy with dropped head and brain involvement.
    Neuromuscul Disord.2012 Feb;22(2):149-151. Epub 2012 Jan 11.

  • Tsuburaya RS, Monma K, Oya Y, Nakayama T, Fukuda T, Sugie H, Hayashi YK, Nonaka I, Nishino I.
    Acid phosphatase-positive globular inclusions is a good diagnostic marker for two patients with adult-onset Pompe disease lacking disease specific pathology.
    Neuromuscul Disord. 2012 May;22(5):389-393. Epub 2011 Dec 21.

  • Malicdan MC, Noguchi S, Tokutomi T, Goto Y, Nonaka I, Hayashi YK, Nishino I.
    Peracetylated N-Acetylmannosamine, a Synthetic Sugar Molecule, Efficiently Rescues Muscle Phenotype and Biochemical Defects in Mouse Model of Sialic Acid-deficient Myopathy.
    J Biol Chem. 2012 Jan 20;287(4):2689-2705. Epub 2011 Dec 8.

  • Malicdan MC, Nishino I.
    Autophagy in lysosomal myopathies.
    Brain Pathol. 2012 Jan;22(1):82-88.

  • Shi Z, Hayashi YK, Mitsuhashi S, Goto K, Kaneda D, Choi YC, Toyoda C, Hieda S, Kamiyama T, Sato H, Wada M, Noguchi S, Nonaka I, Nishino I.
    Characterization of the Asian myopathy patients with VCP mutations.
    Eur J Neurol. 2012 Mar;19(3):501-509. Epub 2011 Oct 31.

  • Fujita M, Mitsuhashi H, Isogai S, Nakata T, Kawakami A, Nonaka I, Noguchi S, Hayashi YK, Nishino I, Kudo A.
    Filamin C plays an essential role in the maintenance of the structural integrity of cardiac and skeletal muscles, revealed by the medaka mutant zacro.
    Dev Biol. 361(1): 79-89, Jan, 2012. Epub 2011 Oct 14.

  • Furusawa Y, Mori-Yoshimura M, Yamamoto T, Sakamoto C, Wakita M, Kobayashi Y, Fukumoto Y, Oya Y, Fukuda T, Sugie H, Hayashi YK, Nishino I, Nonaka I, Murata M.
    Effects of enzyme replacement therapy on five patients with advanced late-onset glycogen storage disease type II: a 2-year follow-up study.
    J Inherit Metab Dis. 2012 Mar;35(2):301-310. Epub 2011 Oct 7.

  • Sukigara S, Liang WC, Komaki H, Fukuda T, Miyamoto T, Saito T, Saito Y, Nakagawa E, Sugai K, Hayashi YK, Sugie H, Sasaki M, Nishino I.
    Muscle glycogen storage disease 0 presenting recurrent syncope with weakness and myalgia.
    Neuromuscul Disord. 22(2): 162-165, Jan, 2012. Epub 2011 Sep 29.

  • Sugai F, Baba K, Toyooka K, Liang WC, Nishino I, Yamadera M, Sumi H, Fujimura H, Nishikawa.
    Adult-onset multiple acyl CoA dehydrogenation deficiency associated with an abnormal isoenzyme pattern of serum lactate dehydrogenase.
    Neuromuscul Disord. 22(2): 159-161, Jan, 2012. Epub 2011 Sep 9.

  • Suzuki N, Aoki M, Mori-Yoshimura M, Hayashi YK, Nonaka I, Nishino I.
    Increase in number of sporadic inclusion body myositis (sIBM) in Japan.
    J Neurol. 2012 Mar;259(3):554-556. Epub 2011 Jul 29.

ページのトップへ戻る


2011年

  • Muraoka T, Murao K, Imachi H, Kikuchi F, Yoshimoto T, Iwama H, Hosokawa H, Nishino I, Fukuda T, Sugie H, Adachi K, Nanba E, Ishida T.
    Novel mutations in the gene encoding acid α-1,4-glucosidase in a patient with late-onset glycogen storage disease type II (Pompe disease) with impaired intelligence.
    Intern Med. 2011;50(24):2987-2991. Epub 2011 Dec 15.

  • Mitsuhashi S, Nishino I.
    Phospholipid synthetic defect and mitophagy in muscle disease.
    Autophagy. 7(24): 1559-1561, Dec, 2011.

  • Mizoi Y, Yamamoto T, Minami N, Ohkuma A,Nonaka I, Nishino I, Tamura N, Amano T, Araki N.
    Oculopharyngeal muscular dystrophy associated with dementia.
    Intern Med. 2011 Oct;50(20): 2409-2412. Epub 2011 Oct 15.

  • Takeda A, Sudo A, Yamada M, Yamazawa H, Izumi G, Nishino I, Ariga T.
    Eponym: Barth syndrome.
    Eur J Pediatr. 2011 Nov;170(11): 1365-1367. Epub 2011 Sep 23.

  • Takeda A, Sudo A, Yamada M, Yamazawa H, Izumi G, Nishino I, Ariga T.
    Barth syndrome diagnosed in the subclinical stage of heart failure based on the presence of lipid storage myopathy and isolated noncompaction of the ventricular myocardium.
    Eur J Pediatr. 2011 Nov;170(11): 1481-1484. Epub 2011 Sep 20.

  • Koebis M, Ohsawa N, Kino Y, Sasagawa N, Nishino I, Ishiura S.
    Alternative splicing of myomesin 1 gene is aberrantly regulated in myotonic dystrophy type 1.
    Genes Cells. 2011 Sep; 6(9): 961-972. Epub 2011 Jul 28.

  • Suzuki S, Ohta M, Shimizu Y, Hayashi YK, Nishino I.
    Anti-signal recognition particle myopathy in the first decade of life.
    Pediatr Neurol. 2011 Aug;45(2):114-116.

  • Mitsuhashi S, Hatakeyama H, Karahashi M, Koumura T, Nonaka I, Hayashi YK, Noguchi S, Sher RB, Nakagawa Y, Manfredi G, Goto YI, Cox GA, Nishino I .
    Muscle choline kinase beta defect causes mitochondrial dysfunction and increased mitophagy.
    Hum Mol Genet. 2011 Oct;20(19): 3841-3851. Epub 2011 Jul 12.

  • Mitsuhashi S, Ohkuma A, Talim B, Karahashi M, Koumura T, Aoyama C, Kurihara M, Quinlivan R, Sewry C, Mitsuhashi H, Goto K, Koksal B, Kale G, Ikeda K, Taguchi R, Noguchi S, Hayashi YK, Nonaka I, Sher RB, Sugimoto H, Nakagawa Y, Cox GA, Topaloglu H, Nishino I.
    A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis.
    Am J Hum Genet. 2011 Jun 10;88(6):845-851.

  • Komaki H, Hayashi YK, Tsuburaya R, Sugie K, Kato M, Nagai T, Imataka G, Suzuki S, Saitoh S, Asahina N, Honke K, Higuchi Y, Sakuma H, Saito Y, Nakagawa E, Sugai K, Sasaki M, Nonaka I, Nishino I.
    Inflammatory changes in infantile-onset LMNA-associated myopathy.
    Neuromuscul Disord. 2011 Aug;21(8): 563-568. Epub 2011 May 31.

  • Fugier C, Klein AF, Hammer C, Vassilopoulos S, Ivarsson Y, Toussaint A, Tosch V, Vignaud A, Ferry A, Messaddeq N, Kokunai Y,Tsuburaya R, de la Grange P, Dembele D, Francois V, Precigout G, Boulade-Ladame C, Hummel MC, de Munain AL, Sergeant N, Laquerrière A, Thibault C, Deryckere F, Auboeuf D, Garcia L, Zimmermann P, Udd B, Schoser B, Takahashi MP, Nishino I, Bassez G, Laporte J, Furling D, Charlet-Berguerand N.
    Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy.
    Nat Med. 2011 Jun; 17(6): 720-725 Epub 2011 May 29.

  • Ohsawa N, Koebis M, Suo S, Nishino I, Ishiura S.
    Alternative splicing of PDLIM3/ALP, for α-actinin-associated LIM protein 3, is aberrant in persons with myotonic dystrophy.
    Biochem Biophys Res Commun. 2011 May 27;409(1):64-69. Epub 2011 Apr 28.

  • Tsuburaya R, Suzuki T, Saiki K, Nonaka I, Sugita H, Hayashi YK, Nishino I.
    Lobulated fibers in a patient with 46-year history of limb-girdle muscle weakness.
    Neuropathology. 2011 Aug;31(4): 455-457. Epub 2011 Apr 26.

  • Cowling BS, Toussaint A, Amoasii L, Koebel P, Ferry A, Davignon L, Nishino I, Mandel JL, Laporte J.
    Increased expression of wild-type or a centronuclear myopathy mutant of dynamin 2 in skeletal muscle of adult mice leads to structural defects and muscle weakness.
    Am J Pathol. 2011 May;178(5):2224-2235.

  • Saito Y, Komaki H, Hattori A, Takeuchi F, Sasaki M, Kawabata K, Mitsuhashi S, Tominaga K, Hayashi YK, Nowak KJ, Laing NG, Nonaka I, Nishino I.
    Extramuscular manifestations in children with severe congenital myopathy due to ACTA1 gene mutations.
    Neuromuscul Disord. 2011 Jul;21(7): 489-493. Epub 2011 Apr 21.

  • Kawashima H, Ishii C, Yamanaka G, Ioi H, Nishimata S, Kashiwagi Y, Takekuma K, Miyajima T, Hoshika A, Nishino I, Nonaka I.
    Myopathy and neurogenic muscular atrophy in unexpected cardiopulmonary arrest.
    Pediatr Int. 2011 Apr;53(2):159-161.

  • Kubota T, Roca X, Kimura T, Kokunai Y, Nishino I, Sakoda S, Krainer AR, Takahashi MP.
    A mutation in a rare type of intron in a sodium-channel gene results in aberrant splicing and causes myotonia.
    Hum Mutat. 2011 Jul;32(7): 773-782. Epub 2011 Apr 28.

  • Maki T, Matsumoto R, Kohara N, Kondo T, Son I, Mezaki T, Nishino I, Ikeda A, Takahashi R.
    Rippling is not always electrically silent in rippling muscle disease.
    Muscle Nerve. 2011 Apr;43(4):601-605.

  • Liang WC, Mitsuhashi H, Keduka E, Nonaka I, Noguchi S, Nishino I, Hayashi YK.
    TMEM43 mutations in emery-dreifuss muscular dystrophy-related myopathy.
    Ann Neurol. 2011 Jun;69(6): 1005-1013. Epub 2011 Mar 9.

  • Yoda M, Tanabe H, Nishino I, Suma H.
    Left ventriculoplasty for dilated cardiomyopathy in Fukuyama-type muscular dystrophy.
    Eur J Cardiothorac Surg.2011 Aug;40(2): 514-516. Epub 2011 Jan 26.

  • Toussaint A, Cowling BS, Hnia K, Mohr M, Oldfors A, Schwab Y, Yis U, Maisonobe T, Stojkovic T, Wallgren-Pettersson C, Laugel V, Echaniz-Laguna A, Mandel JL, Nishino I, Laporte J.
    Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies.
    Acta Neuropathol. 2011 Feb;121(2):253-266. Epub 2010 Oct 7.

  • Liang WC, Nishino I.
    Lipid storage myopathy.
    Curr Neurol Neurosci Rep. 2011 Feb;11(1):97-103.

ページのトップへ戻る


2010年

  • Liang WC, Nishino I.
    State of the art in muscle lipid diseases.
    Acta Myol. 2010 Oct;29(2):351-356.

  • Mimaki M, Hatakeyama H, Komaki H, Yokoyama M, Arai H, Kirino Y, Suzuki T, Nishino I, Nonaka I, Goto Y.
    Reversible infantile respiratory chain deficiency: a clinical and molecular study.
    Ann Neurol. 2010 Dec;68(6):845-854.

  • Ishii K, Komaki H,Ohkuma A, Nishino I, Nonaka I, Sasaki M.
    Central nervous system and muscle involvement in an adolescent patient with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
    Brain Dev. 2010 Sep;32(8):669-672. Epub 2009 Sep 26.

  • Mitsuhashi H, Hayashi YK, Matsuda C, Noguchi S, Wakatsuki S, Araki T, Nishino I.
    Specific phosphorylation of Ser458 of A-type lamins in LMNA-associated myopathy patients.
    J Cell Sci. 2010 Nov 15;123(Pt 22):3893-3900. Epub 2010 Oct 27.

  • Mitsui J, Takahashi Y, Goto J, Tomiyama H, Ishikawa S, Yoshino H, Minami N, Smith DI, Lesage S, Aburatani H, Nishino I, Brice A, Hattori N, Tsuji S.
    Mechanisms of genomic instabilities underlying two common fragile-site-associated loci, PARK2 and DMD, in germ cell and cancer cell lines.
    Am J Hum Genet. 2010 Jul 9;87(1):75-89.

  • Crotzer V, Glosson N, Zhou D, Nishino I, Blum J.
    LAMP-2-deficient human B cells exhibit altered MHC class II presentation of exogenous antigens.
    Immunology. 2010 Nov;131(3):318-330.

  • Kim H, Cho A, Lim BC, Kim MJ, Kim KJ, Nishino I, Hwang YS, Chae JH.
    A 13-year-old girl with proximal weakness and hypertrophic cardiomyopathy with Danon Disease.
    Muscle Nerve. 2010 Jun;41(6):879-882.

  • Iwabu M, Yamauchi T, Okada-Iwabu M, Sato K, Nakagawa T, Funata M, Yamaguchi M, Namiki S, Nakayama R, Tabata M, Ogata H, Kubota N, Takamoto I, Hayashi YK, Yamauchi N, Waki H, Fukayama M, Nishino I, Tokuyama K, Ueki K, Oike Y, Ishii S, Hirose K, Shimizu T, Touhara K, Kadowaki T.
    Adiponectin and AdipoR1 regulate PGC-1alpha and mitochondria by Ca2+ and AMPK/SIRT1.
    Nature. 2010 Apr 29;464(7293):1313-1319. Epub 2010 Mar 31.

  • Tominaga K, Hayashi YK, Goto K, Minami N, Noguchi S, Nonaka I, Miki T, Nishino I.
    Congenital myotonic dystrophy can show congenital fiber type disproportion pathology.
    Acta Neuropathol. 2010 Apr;119(4):481-486. Epub 2010 Feb 24.

  • Yamazaki Y,Kamei Y, Sugita S, Akaike F, Kanai S, Miura S, Hirata Y, Troen BR, Kitamura T, Nishino I, Suganami T, Ezaki O, Ogawa Y.
    The cathepsin L gene is a direct target of FOXO1 in the skeletal muscle.
    Biochem J. 2010 Mar 15;427(1):171-178.

  • Malicdan MC, Noguchi S, Nishino I.
    A preclinical trial of sialic acid metabolites on distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy, a sugar-deficient myopathy: a review.
    Ther Adv Neurol Disord. 2010;3(2):127-135.

  • Okanishi T, Ishikawa T, Kobayashi S, Ando N, Nishino I, Togari H, Nonaka I.
    Bilateral occipital cortical dysplasia and white matter T2 hyperintensity with mild non-specific myopathy: Two sibling cases.
    Brain Dev. 2010 Apr;32(4):342-346. Epub 2009 Dec 22.

ページのトップへ戻る


2009年

  • Hayashi YK, Matsuda C, Ogawa M, Goto K, Tominaga K, Mitsuhashi S, Park YE, Nonaka I, Hino-Fukuyo N, Haginoya K, Sugano H, Nishino I.
    Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy.
    J Clin Invest. 2009 Sep;119(9):2623-2633. Epub 2009 Aug 10.
    (リポジストロフィーを伴う新しい筋ジストロフィーを世界で初めて見出しました)

  • Sugie K, Hayashi YK, Kin T, Goto K, Nishino I, Ueno S.
    Hemiatrophy as a clinical presentation in facioscapulohumeral muscular dystrophy (FSHD).
    Neurology. 2009 Aug 4;73(5):e24.

  • Arai A, Mitsuhashi S, Saito Y, Komaki H, Sakuma H, Nakagawa E, Sugai K, Sasaki M, Robertson SP, Nishimura G, Yamamoto T, Nonaka I, Nishino I.
    Nemaline (actin) myopathy with myofibrillar dysgenesis and abnormal ossification.
    Neuromuscul Disord. 2009 Jul;19(7):485-458. Epub 2009 Jun 23.

  • Park YE, Hayashi YK, Bonne G, Arimura T, Noguchi S, Nonaka I, Nishino I.
    Autophagic degradation of nuclear components in mammalian cells.
    Autophagy. 2009 Aug;5(6):795-804. Epub 2009 Aug 30.

  • Shalaby S, Mitsuhashi H, Matsuda C, Minami N, Noguchi S, Nonaka I, Nishino I, Hayashi YK.
    Defective myotilin homodimerization caused by a novel mutation in MYOT exon 9 in the first Japanese limb girdle muscular dystrophy 1A patient.
    J Neuropathol Exp Neurol. 2009 Jun;68(6):701-707.

  • Malicdan MC, Noguchi S, Hayashi YK, Nonaka I, Nishino I.
    Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model.
    Nat Med. 2009 Jun;15(6):690-695.
    (希少性筋難病である「縁取り空胞を伴う遠位型ミオパチー」の根本的治療法開発の可能性を、世界で初めて示しました)

  • Fujii K, Minami N, Hayashi YK, Nishino I, Nonaka I, Tanabe Y, Yakanashi J, Kohno Y.
    Homozygous female Becker muscular dystrophy.
    Am J Med Genet A. 2009 Apr 24;149A(5):1052-1055.

  • Ramachandran N, Munteanu I, Wang P, Aubourg P, Rilstone JJ, Israelian N, Naranian T, Paroutis P, Guo R, Ren ZP, Nishino I, Chabrol B, Pellissier JF, Minetti C, Udd B, Fardeau M, Tailor CS, Mahuran DJ, Kissel JT, Kalimo H, Levy N, Manolson MF, Ackerley CA, Minassian BA.
    VMA21 deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidification.
    Cell.2009 Apr 17;137(2):235-246.

  • Liang WC, Ohkuma A, Hayashi YK,Lopez LC, Hirano M, Nonaka I, Noguchi S, Chen LH, Jong YJ, Nishino I.
    ETFDH mutations, CoQ(10) levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
    Neuromuscul Disord. 2009 Mar;19(3):212-216. Epub 2009 Feb 26.

  • Malicdan MC, Noguchi S, Nishino I.
    Monitoring Autophagy in Muscle Diseases.
    Methods Enzymol. 2009;453:379-396.

  • Ohkuma A, Noguchi S, Sugie H, Malicdan MC, Fukuda T, Shimazu K, Lopez LC, Hirano M, Hayashi YK, Nonaka I, Nishino I.
    Clinical and genetic analysis of lipid storage myopathies.
    Muscle Nerve. 2009 Feb 10;39(3):333-342.

  • Shalaby S, Hayashi YK, Goto K, Ogawa M, Nonaka I, Noguchi S, Nishino I.
    Novel FHL1 mutations in fatal and benign reducing body myopathy.
    Neurology. 2009 Jan 27;72(4):375-376.

  • Park YE, Hayashi YK, Goto K, Nonaka I, Noguchi S, Nishino I.
    Nuclear changes in skeletal muscles extend to satellite cells in AD-EDMD/LGMD1B.
    Neuromuscul Disord. 2009 Jan;19(1):29-36. Epub 2008 Dec 12.

  • Dougu N, Joho S, Shan L, Shida T, Matsuki A, Uese K, Hirono K, Ichida F, Tanaka K, Nishino I, Inoue H.
    Novel LAMP-2 mutation in a family of Danon disease presenting with hypertrophic cardiomyopathy.
    Circ J. 2009 Feb;73(2):376-380. Epub 2008 Dec 5.

  • Lopez LC, Akman HO, Garcia-Cazorla A, Dorado B, Marti R, Nishino I, Tadesse S, Pizzorno G, Shungu D, Bonilla E, Tanji K, Hirano M.
    Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase deficient mice.
    Hum Mol Genet. 2009 Feb 15;18(4):714-722. Epub 2008 Nov 21.

  • Arimura T, Hayashi YK, Murakami T, Oya Y, Funabe S, Arikawa-Hirasawa E, Hattori N, Nishino I, Kimura A.
    Mutational Analysis of Fukutin Gene in Dilated Cardiomyopathy and Hypertrophic Cardiomyopathy.
    Circ J . 2009 Jan;73(1):158-161. Epub 2008 Nov 17.

  • Shalaby S, Hayashi YK, Goto K, Ogawa M, Nonaka I, Noguchi S, Nishino I.
    Rigid spine syndrome caused by a novel mutation in four-and-a-half LIM domain 1 gene (FHL1).
    Neuromuscul Disord. 2008 Dec;18(12):959-961. Epub 2008 Oct 25.

  • Ohkuma A, Nonaka I, Malicdan MC, Noguchi S, Nomura K, Sugie H, Hayashi YK, Nishino I.
    Distal lipid storage myopathy due to PNPLA2 mutation.
    Neuromuscul Disord. 2008 Aug;18(8):671-674. Epub 2008 Jul 26.

ページのトップへ戻る


2008年

  • Shalaby S, Hayashi YK, Goto K, Ogawa M, Nonaka I, Noguchi S, Nishino I.
    Rigid spine syndrome caused by a novel mutation in four-and-a-half LIM domain 1 gene (FHL1).
    Neuromuscul Disord. 2008 Dec;18(12):959-961. Epub 2008 Oct 25.

  • Ohkuma A, Nonaka I, Malicdan MC, Noguchi S, Nomura K, Sugie H, Hayashi YK, Nishino I.
    Distal lipid storage myopathy due to PNPLA2 mutation.
    Neuromuscul Disord. 2008 Aug;18(8):671-674. Epub 2008 Jul 26.

  • Kawahara G, Ogawa M, Okada M, Malicdan MCV, Goto Y, Hayshi YK, Noguchi S, Nishino I.
    Diminished binding of mutated collagen VI to the extracellular matrix surrounding myocytes.
    Muscle Nerve. 2008 Sep;38(3):1192-1195.

  • Malicdan MC, Noguchi S, Nonaka I, Hayashi YK, Nishino I.
    Muscle weakness correlates with muscle atrophy and precedes the development of inclusion body or rimmed vacuoles in the mouse model of DMRV/hIBM.
    Physiol Genomics. 2008 Sep 17;35(1):106-115. Epub 2008 Jul 15.Affixin activates Rac1 via betaPIX in C2C12 myoblast.

  • Matsuda C, Kameyama K, Suzuki A, Mishima W, Yamaji S, Okamoto H, Nishino I, Hayashi Y.
    Affixin activates Rac1 via betaPIX in C2C12 myoblast.
    FEBS Lett. 2008 Apr 9;582(8):1189-1196. Epub 2008 Mar 4.

  • Oishi M, Miki K, Morita A, Fujioka K, Aoki S, Nishino I, Nonaka I, Goto Y, Mizutani T.
    Mitochondrial encephaolopathy associated with diabetes mellitus, cataract, and corpus callosum atrophy.
    Intern Med. 2008;47(5):441-444. Epub 2008 Mar 3.

  • Tanabe T, Fukusaki M, TeraoY, Yamashita K, Sumikawa K, Mukaida K, Ibarra CA, Nishino I.
    Malignant hyperthermia susceptibility diagnosed with a family-specific ryanodine receptor gene type 1 mutation.
    J Anesth. 2008;22(1):70-73. Epub 2008 Feb 27.

  • Okahashi S, Ogawa G, Suzuki M, Ogata K, Nishino I, Kawai M.
    Asymptomatic sporadic dysferlinopathy presenting with elevation of serum creatine kinase. Typical distribution of muscle involvement shown by MRI but not by CT.
    Intern Med. 2008;47(5):441-444. Epub 2008 Mar 3.

  • Tunon T, Guerrero D, Urchaga A, Nishino I, Ayuso T, Matsuda Y, Caballero MC, Berj?n J, Imizcoz MA.
    Danon disease: A novel Lamp-2 gene mutation in a family with four affected members.
    Neuromuscul Disord. 2008 Feb;18(2):167-174. Epub 2007 Dec 3.

  • Mitsuhashi H, Futai E, Sasagawa N, Hayashi YK, Nishino I, Ishiura S.
    Csk-homologous kinase interacts with SHPS-1 and enhances neurite outgrowth of PC12 cells.
    J Neurochem. 2008 Apr;105(1):101-112. Epub 2007 Nov 12.

  • Takahashi N, Shimada T, Ishibashi Y, Yoshitomi H, Oyake N, Murakami Y, Nishino I, Nonaka I, Goto YI, Kitamura J.
    Marked left ventricular hypertrophy in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
    Int J Cardiol. 2008 Oct 13;129(3):e77-e80. Epub 2007 Sep 25.

  • Sato I, Wu S, Ibarra M CA, Hayashi YK, Fujita H, Tojo M, Oh SJ, Nonaka I, Noguchi S, Nishino I.
    Congenital neuromuscular disease with uniform type 1 fiber associated with RYR1 mutation.
    Neurology.2008 Jan 8;70(2):114-22. Epub 2007 May 30.
    (世界で初めて、先天性全タイプ1線維病の原因を明らかにしました)
    (当該号の"Highlights" および "Editorial"で取り上げられました)

ページのトップへ戻る


2007年

  • Migita T, Mukaida K, Kawamoto M, Kobayashi M, Nishino I, Yuget O.
    Propofol-induced changes in myoplasmic calcium concentrations in cultured human skeletal muscles from RYR1 mutation carriers.
    Anaesth Intensive Care. 2007 Dec;35(6):894-898.

  • Eisenberg I, Eran A, Nishino I, Moggio M, Lamperti C, Amato AA, Lidov HG, Kang PB, North KN, Mitrani-Rosenbaum S, Flanigan KM, Meely LA, Whitney D, Beggs AH, Kohane IS, Kunkel LM.
    Distinctive patterns of microRNA expression in primary muscular diorders.
    Proc Natl Acad Sci USA. 2007 Oct 23;104(43):17016-17021. Epub 2007 Oct 17.

  • Kawahara G, Okada M, Morone N, Ibarra MCA, Nonaka I, Noguchi S, Hayashi YK, Nishino I.
    Sarcolemma specific collagen VI deficiency in UCMD is associated with diminished cell anchorage.
    Neuorloly. 2007 Sep 4;69(10):1043-1049.

  • Okada M, Kawahara G, Noguchi S, Sugie K, Murayama K, Nonaka I, Hayashi YK, Nishino I.
    Primary collagen VI deficiency is the second leading cause of congenital MD in Japan.
    Neurology. 2007 Sep 4;69(10):1035-1042.

  • Aoki J, Yasuno T, Sugie H, Kido H, Nishino I, Shigematsu Y, Kanazawa M, Takayanagi M, Kumami M, Endo K, Kaneoka H, Yamaguchi M, Fukuda T, Yamamoto T.
    A Japanese adult form of CPT II deficiency associated with a homozygous F383Y mutation.
    Neurology. 2007 Aug 21;69(8):804-806.

  • Malicdan MC, Noguchi S, Nonaka I, Hayashi YK, Nishino I.
    A Gne knockout mouse expressing human D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy.
    Hum Mol Genet. 2007 Nov 15;16(22):2669-2682. Epub 2007 Aug 18.
    (世界で初めて遠位型ミオパチー(DMRV/HIBM)モデルマウス作製に成功し、治療法開発研究が可能になりました)

  • Ura S, Hayshi YK, Goto K, Astejada MN, Murakami T, Nagato M, Ohta S, Daimon Y, Takekawa H, Hirata K, Nonaka I, Noguchi S, Nishino I.
    Limb girdle muscular dystrophy due to the emerin gene mutation.
    Arch Neurol. 2007 Jul;64(7):1038-1041.

  • Matsubara E, Tsuchiya A, Minami N, Nishino I, Pappolla MA, Shoji M, Abe K
    A unique case of limb-girdle muscular dystrophy type 2A carrying novel compound heterozygous mutations in the human CAPN3 gene.
    Eur J Neurol. 2007 Jul;14(7):819-822.

  • Sugimoto S, Shiomi K, Yamamoto A, Nishino I, Nonaka I, Ohi T.
    LAMP-2 positive vacuolar myopathy with dilated cardiomyopathy.
    Intern Med. 2007;46(11):757-760. Epub 2007 Jun 1.

  • Keira Y, Noguchi S, Kurokawa R, Fujita M, Minami N, Hayshi YK, Kato T, Nishino I.
    Gene expression profiling characterizing lobulated fibers in limb girdle muscular dystrophy type 2A.
    Neurosci Res. 2007 Apr;57(4):513-521. Epub 2007 Jan 5.

  • Muchir A, Pavlidis P, Bonne G, Hayashi YK, Worman HJ.
    Activation of MAPK in hearts of EMD null mice: similarities between mouse models of X-linked and autosomal dominant Emery Dreifuss muscular dystrophy.
    Hum Mol Genet. 2007 Aug 1;16(15):1884-1895. Epub 2007 Jun 13.

  • Fujita E, Kouroku Y, Isoai A, Kumagai H, Misutani A, Matsuda C, Hayashi YK, Momoi T.
    Two endoplasmic reticulum-associated degradation (ERAD) systems for the novel variant of the mutant dysferlin: ubiquitin/proteasome ERAD(I) and autophagy/lysosome ERAD(II).
    Hum Mol Genet. 2007 Mar 15;16(6):618-629. Epub 2007 Mar 1

  • Malicdan MC, Noguchi S, Nishino I.
    Autophagy in a mouse model of distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy
    Autophagy. 2007 Jul-Aug;3(4):396-398. Epub 2007 Jul 12.

  • Watanabe N, Sasaoka T, Noguchi S, Nishino I, Tanaka T. 
    Cys669-Cys713 disulfide bridge formation is a key to dystroglycan cleavage and subunit association.
    Genes Cells. 2007 Jan;12(1):75-88.

  • Liewluck T, Hayashi YK, Ohsawa M, Kurokawa R, Fujita M, Noguchi S, Nonaka I, Nishino I.
    Unfolded protein response and aggresome formation in hereditary reducing body myopathy.
    Muscle Nerve. 2007 Mar;35(3):322-326.

  • Ohsawa M, Liewluck T, Ogata K, Iizuka T, Hayashi YK, Nonaka I, Sasaki M, Nishino I.
    Familial reducing body myopathy.
    Brain Dev. 2007 Mar;29(2):112-116. Epub 2006 Aug 21.

ページのトップへ戻る


2006年

  • Fukami M, Wada Y, Okada M, Nishino I, Hasegawa T, Camerino G, Kretz C, Buj-Bello A, Laporte J, Yamada G, Morohashi K, Ogata T.
    CXorf6 is a causative gene for hypospadias.
    Nat Genet. 2006 Dec;38(12):1369-1371. Epub 2006 Nov 5.

  • Murakami T, Hayashi YK, Noguchi S, Ogawa M, Nonaka I, Tanabe Y, Ogino M, Takada F, Eriguchi M, Kototaoka N, Campbell KP, Osawa M, Nishino I.
    Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness.
    Ann Neurol. 2006 Nov;60(5):597-602.
    (新しい肢帯型筋ジストロフィーを報告し、LGMD2Lと名付けられました)

  • Lin YC, Murakami T, Hayashi YK, Nishino I, Nonaka I, Yuo CY, Jong YJ .
    A novel FKRP gene mutation in a Taiwanese patient with limb-girdle muscular dystrophy 2I.
    Brain Dev. 2007 May;29(4):234-238. Epub 2006 Oct 20

  • Nishino I.
    Autophagic vacuolar myopathy.
    Semin Peditr Neurol. 2006 Jun;13(2):90-95.

  • Miura S, Tomitsuka E, Kamei Y, Yamazaki T, Kai Y, Tamura M, Kita K, Nishino I, Ezaki O.
    A mouse model of mitochondrial myopathy, Luft’s disease.
    Am J Pathol. 2006 Oct;169(4):1129-1139.

  • Liewluck T, Pho-iam T, Limwongse C, Thongnoppakhun W, Boonyapisit K, Raksadawan N, Murayama K, Hayashi YK, Nishino I, Sangruchi T.
    Mutation analysis of the GNE gene in distal myopathy with rimmed vacuoles (DMRV) patients in Thailand.
    Muscle Nerve. 2006 Dec;34(6):775-778.

  • Ibarra MCA, Wu S, Murayama K, Minami N, Ichihara Y, Kikuchi H, Noguchi S, Hayashi YK, Ochiai R, Nishino I.
    Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing.
    Anesthesiology. 2006 Jun;104(6):1146-1154.

  • Wu S, Ibarra MCA, Malicdan MC, Murayama K, Ichihara Y, Kikuchi H, Nonaka I, Noguchi S, Hayashi YK, Nishino I.
    Central core disease is due to RYR1 mutations in more than 90% of patients.
    Brain. 2006 Jun;129(Pt 6):1470-1480. Epub 2006 Apr 18.

  • Liewluck T, Raksadawan N, Limwongse C, Nishino I, Sangruchi T.
    Floppy infant caused by MTM1 mutation: A first genetically-confirmed X-linked myotubular mypathy patient in Thailand.
    J Med Assoc Thai.89: 99-105, 2006.

  • Goto K, Nishino I, Hayshi YK.
    Rapid and accurate diagnosis of facioscapulohumeral muscular dystrophy.
    Neuromuscul Disord. 2006 Apr;16(4):256-261. Epub 2006 Mar 20.

  • Hino-Fukuyo N, Haginoya K, Hayashi YK, Nishino I, Murakami T, Nonaka I, Togashi K, Tanaka S, Takayanagi M, Yokoyama H, Sakamoto O, Abe T, Toda T, Iimura K.
    A case of Fukuyama-type congenital muscular dystrophy with a very mild mental deficit.
    Neuromuscul Disord. 2006 Apr;16(4):274-276. Epub 2006 Mar 20.

  • Taniguchi M, Kurahashi H, Noguchi S, Fukudome T, Okinaga T, Tsukahara T, Tajima Y, Ozono K, Nishino I, Nonaka I, Toda T.
    Aberrant neuromuscular junctions and delayed terminal muscle fiber maturation in alpha-dystroglycanopathies.
    Hum Mol Genet. 2006 Apr 15;15(8):1279-1289. Epub 2006 Mar 10.

  • Ozawa R, Hayashi YK, Ogawa M, Kurokawa R, Chen YC, Matsumoto H, Nonaka I, Nishino I.
    Emerin is essential for a normal cardiac function in mice.
    Am J Pathol. 2006 Mar;168(3):907-917.

  • Toriumi Y, Takusa Y, Uchiyama A, Kimura M, Sejima H, Yamaguchi S, Eda I, Nishino I, Nonaka I.
    Distal myopathy with rimmed vacuoles in a case of opercular syndrome.
    Brain Dev. 2006 Aug;28(7):458-461. Epub 2006 Feb 28.

  • Taniguchi M, Kurahashi H, Noguchi S, Sese J, Okinaga T, Tsukahara T, Guicheney P, Ozono K, Nishino I, Morishita S, Toda T
    Expression profiling of muscles from Fukuyama-type congenital muscular dystrophy and laminin-α2 deficient congenital muscular dystrophy; is congenital muscular dystrophy a primary fibrotic disease?
    Biochem Biophys Res Commun. 2006 Apr 7;342(2):489-502. Epub 2006 Feb 3.

  • Sakamoto HM, Yoshioka M, Tsuji M, Kuroki S, Higuchi Y, Nonaka I, Nishino I.
    A case of congenital neuromuscular disease with uniform type 1 fibers.
    Brain Dev. 2006 Apr;28(3):202-205. Epub 2006 Jan 18.

ページのトップへ戻る


2005年

  • Murakami N, Sakuta R, Takahashi E, Katada Y, Nagai T, Owada M, Nishino I, Nonaka I.
    Early onset distal muscular dystrophy with normal dysferlin expression.
    Brain Dev. 2005 Dec;27(8):589-591.

  • Torelli S, Brown SC, Brockington M, Dolatshad NF, Jimenez C, Skordis L, Feng LH, Merlini L, Hilton Jones D, Romero N, Ulla W, Voit T, Sewry CA, Noguchi S, Nishino I, Muntoni F.
    Sub-cellular localization of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I.
    Neuromuscul Disord. 2005 Dec;15(12):836-843. Epub 2005 Nov 8.

  • Yan C, Tanaka M, Sugie K, Nobutoki T, Woo M, Murase N, Higuchi Y, Noguchi S, Nonaka I, Hayashi YK, Nishino I.
    A new congenital form of X-linked autophagic vacuolar myopathy.
    Neurology. 2005 Oct 11;65(7):1132-1134.

  • Eskelinen EL, Cuervo AM, Taylor MRG, Nishino I, Blum JS, Dice JF, Sandoval IV, Lippincott-Schwartz J, August JT, Saftig P.
    Unifying nomenclature for the isoforms of the lysosomal membrane protein LAMP-2.
    Traffic. 2005 Nov;6(11):1058-1061.

  • Sakuta R, Murakami N, Jin Y, Ngai T, Nonaka I, Nishino I.
    Diagnostic significance of membrane attack complex and vitronectin in childhood dermatomyositis.
    J Child Neurol. 2005 Jul;20(7):597-602.

  • Noguchi S, Fujita M, Murayama K, Kurokawa R, Nishino I.
    Gene expression analyses in X-linked myotubular myopathy.
    Neurology. 2005 Sep 13;65(5):732-737.

  • Nakagawa O, Arnold M, Nakagawa M, Hamada H, Shelton JM, Kusano H, HarrisTM, Childs G, Campbell KP, Richardson JA, Nishino I, Olson EN.
    Centronuclear myopathy in mice lacking a novel muscle-specific protein kinase transcriptionally regulated by MEF2.
    Genes Dev. 2005 Sep 1;19(17):2066-2077.

  • Sugie K, Noguchi S, Kozuka Y, Arikawa-Hirasawa E, Tanaka M, Yan C, Saftig P, von Figura K, Hirano M, Ueno S, Nonaka I, Nishino I.
    Autophagic vacuoles with sarcolemmal delineate Danon disease and related myopathies.
    J Neuropathol Exp Neurol. 2005 Jun;64(6):513-522.

  • Matsuda C, Kameyama K, Tagawa K, Ogawa M, Suzuki A, Yamaji S,Okamoto H, Nishino I, Hayashi YK.
    Dysferlin interacts with affixin (beta-parvin) at the sarcolemma.
    J Neuropathol Exp Neurol. 2005 Apr;64(4):334-340.

  • Amouri R, Driss A, Murayama K, Kefi M, Nishino I, Hentati F.
    Allelic heterogeneity of GNE gene mutation in two Tunnisian families.
    Neuromuscul Disord. 2005 May;15(5):361-363.

  • Matsumoto H, Hayashi YK, Kim DS, Ogawa M, Murakami T, Noguchi S, Nonaka I, Nakazawa T, Matsuo T, Futagami S, Campbell KP, Nishino I.
    Congenital muscular dystrophy with glycosylation defects of alpha-dystroglycan in Japan.
    Neuromuscul Disord. 2005 May;15(5):342-348.

  • Goh KJ, Wong KT, Nishino I, Minami N, Nonaka I.
    Oculopharyngeal muscular dystrophy with PABPN1 mutation in a Chinese Malaysian woman.
    Neuromuscul Disord. 2005 Mar;15(3):262-264. Epub 2005 Jan 28.

  • Tsai TC, Horinouchi H, Noguchi S, Minami N, Murayama K, Hayashi YK, Nishino I.
    Characterization of MTM1 mutations in 31 Japanese families with myotubular myopathy, including a patient carrying 240 kb deletion in Xq28 without male hypogenitalism.
    Neuromuscul Disord. 2005 Mar;15(3):245-252. Epub 2005 Jan 28.

ページのトップへ戻る


2004年

  • Sugie K, Murayama K, Noguchi S, Murakami N, Mochizuki M, Hayashi YK, Nonaka I, Nishino I.
    Two novel CAV3 gene mutations in Japanese LGMD1C patients.
    Neuromuscul Disord. 2004 Dec;14(12):810-814.

  • Kawabe K, Goto K, Nishino I, Angelini C, Hayashi YK.
    Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy.
    Eur J Neurol. 2004 Oct;11(10):657-661.

  • Matsumoto H, Noguchi S, Sugie K, Ogawa M, Murayama K, Hayashi YK, Nishino I.
    Subcellular localization of fukutin and fukutin-related protein in muscle cells.
    J Biochem. 2004 Jun;135(6):709-712.

  • Ohashi Y, Hasegawa Y, Murayama K, Ogawa M, Hasegawa T, Kawai M, Sakata N, Yoshida K, Yarita H, Imai K, Kumagai I, Murakami K, Hasegawa H, Noguchi S, Nonaka I, Yamaguchi S, Nishino I. 
    A new diagnostic test for VLCAD deficiency using immunohistochemistry.
    Neurology. 2004 Jun 22;62(12):2209-2213.

  • Barresi R, Michele DE, Kanagawa M, Harper HA, Dovico SA, Satz JS, Moore SA, Zhang W, Schachter H, Dumanski JP, Cohn RD, Nishino I, Campbell KP.
    LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies.
    Nat Med. 2004 Jul;10(7):696-703. Epub 2004 Jun 6.

  • Yamanaka G, Goto K, Oya Y, Miyajima T, Hoshika A, Nishino I, Hayashi YK.
    FSHD-like patients without 4q35 deletion.
    J Neurol Sci. 2004 Apr 15;219(1-2):89-93.

  • Kim DS, Hayashi YK, Matsumoto H, Ogawa M, Noguchi S, Murakami N, Sakuta R, Mochizuki M, Michele DE, Campbell KP, Nonaka I, Nishino I.
    Abnormal glycosylation of alpha-dystroglycan due to POMT1 gene mutation in a Japanese patient with Walker-Warburg syndrome.
    Neurology. 2004 Mar 23;62(6):1009-1011.

  • Ishikawa H, Sugie K, Murayama K, Awaya A, Suzuki Y, Hayashi YK, Nonaka I, Nishino I.
    Ullrich disease due to deficiency of collagen VI in the sarcolemma.
    Neurology.2004 Feb 24;62(4):620-603.
    (当該号のHighlight and Commentary に採用されました)

  • Goto K, Nishino I, Hayashi YK.
    Greatly low penetrance in 85 Japanese families with facioscapulo-humeral muscular dystrophy 1A.
    J Med Genet. 2004 Jan;41(1):e12.

  • Noguchi S, Keira Y, Murayama K, Ogawa M, Fujita M, Kawahara G, Oya Y, Imazawa M, Goto Y, Hayashi YK, Nonaka I, Nishino I.
    Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetyl-mannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles.
    J Biol Chem. 2004 Mar 19;279(12):11402-11407. Epub 2004 Jan 5.
    (縁取り空胞を伴う遠位型ミオパチーが培養細胞レベルで治療可能なことを世界で初めて証明しました)

ページのトップへ戻る


2003年

  • Sugie K, Koori T, Yamamoto A, Ogawa M, Hirano M, Inoue K, Nonaka I, Nishino I.
    Characterization of Danon disease in a man and his affected mother.
    Neuromuscul Disord. 2003 Nov;13(9):708-711.

  • Ishikawa H, Nonaka I, Nishino I.
    Negative result in search for human alpha-dystrobrevin deficiency.
    Muscle Nerve. 2003 Sep;28(3):387-388.

  • Hayashi YK.
    Membrane-repair machinery and muscular dystrophy.
    Lancet. 2003 Sep 13;362(9387):843-844.

  • Nambu M, Kawabe K, Fukuda T, Okuno TB, Ohta S, Nonaka I, Sugie H, Nishino I.
    A neonatal form of glycogen storage disease type IV with a nucleotide deletion in GBE1 gene.
    Neurology. 2003 Aug 12;61(3):392-394.

  • Kaneda D, Sugie K, Yamamoto A, Matsumoto H, Kato T, Nonaka I, Nishino I.
    A novel form of autophagic vacuolar myopathy with late-onset and multi-organ involvement.
    Neurology. 2003 Jul 8;61(1):128-131.

  • Keira Y, Noguchi S, Minami N, Hayashi YK, Nishino I.
    Localization of calpain 3 in human skeletal muscle and its alteration in limb-girdle muscular dystrophy 2A muscle.
    J Biochem. 2003 May;133(5):659-664.

  • Tagawa K, Ogawa M, Kawabe K, Yamanaka G, Matsumura T, Goto K, Nonaka I, Nishino I, Hayashi YK.
    Protein and gene analysis of dysferlinopathy in a large group of Japanese muscular dystrophy patients.
    J Neurol Sci. 2003 Jul 15;211(1-2):23-28.

  • Driss A, Noguchi S, Amouri R, Kefi M, Sasaki T, Sugie K, Souilem S, Hayashi YK, Shimizu N, Minoshiima S, Kudoh J, Hentati F, Nishino I.
    Fukutin-related protein gene mutated in the original kindred with limb-girdle MD 2I.
    Neurology . 2003 Apr 22;60(8):1341-1344.
    (当該号のEditorialsおよびHighlightsに採用されました)

  • Noguchi S, Tsukahara T, Fujita M, Kurokawa R, Tachikawa M, Toda T, Tsujimoto A, Arahata K, Nishino I.
    cDNA microarray analysis of individual Duchnne muscular dystrophy patients.
    Hum Mol Genet. 2003 Mar 15;12(6):595-600.
    (当該号のcover articleに採用されました)

  • Nishino I.
    Autophagic vacuolar myopathies.
    Curr Neurol Neurosci Rep. 2003 Jan;3(1):64-69.

ページのトップへ戻る


2002年

  • Nishino I, Noguchi S, Murayama K, Driss A, Sugie K, Oya Y, Nagata T, Chida K, Takahashi T, Takusa Y, Ohi T, Nishimiya J, Sunohara N, Ciafaloni E, Kawai M, Aoki M, Nonaka I.
    Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy.
    Neurology. 2002 Dec 10;59(11):1689-1693.
    (当該号のEditorialsに採用されました)

  • Ishikawa H, Sugie K, Murayama K, Ito M, Minami N, Nishino I, Nonaka I.
    Ullrich disease: Collagen VI deficiency. EM suggests a new basis for muscular weakness.
    Neurology. 2002 Sep 24;59(6):920-923.
    (当該号のHighlightsに採用されました)

  • Michele DE, Barresi R, Kanagawa M, Saito F, Cohn RD, Satz JS, Dollar J, Nishino I, Kellely RI, Somer H, Straub V, Mathews KD, Moore SA, Campbell KP.
    Posttranslational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies.
    Nature. 2002 Jul 25;418(6896):417-422.

  • Sugie K, Yamamoto A, Murayama K, Takahashi M, Mora M, Riggs JE, Oh SJ, Colomer J, Inturriaga C, Saitoh S, Byrne E, DiMauro S, Noanka I, Hirano M, Nishino I.
    Clinicopathological features of genetically confirmed Danon disease.
    Neurology. 2002 Jun 25;58(12):1773-1778.

  • Arikawa-Hirasawa E, Le AH, Nishino I, Nonaka I, Ho NC, Francomano CA, Govindraj P, Hassell JR, Devaney JM, Spranger J, Stevenson RE, Iannaccone S, Dalakas, MC, Yamada Y.
    Structural and functional mutations of the Perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia.
    Am J Hum Genet. 2002 May;70(5):1368-1375.

ページのトップへ戻る


2001年

  • Ikemoto-Tsuchiya K, Nishino I, Kawai M, Morimatsu M, Nonaka I.
    A new form of muscular dystrophy with mitochondrial structural abnormalities.
    Muscle Nerve. 2001 Dec;24(12):1710-1711.

  • Yamamoto A, Morisawa Y, Verloes A, Hirano M, Nonaka I, Nishino I.
    Infantile autophagic vacuolar myopathy is distinct from Danon disease.
    Neurology. 2001 Sep 11;57(5):903-905.

  • Matsuda C, Hayashi YK, Ogawa M, Aoki M, Murayama K, Nishino I, Nonaka I, Arahata K, Brown Jr RH.
    The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle.
    um Mol Genet. 2001 Aug 15;10(17):1761-1766.

  • Hayashi YK, Ogawa M, Tagawa K, Noguchi S, Ishihara T, Nonaka I, Arahata K.
    Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy.
    Neurology. 2001 Jul 10;57(1):115-121.

  • Kim YJ, Noguchi S, Hayashi YK, Tsukahara T, Shimizu T, Arahata K.
    The product of an oculopharyngeal muscular dystrophy gene, poly(A)-binding protein 2, interacts with SKIP and stimulates muscle-specific gene expression.
    Hum Mol Genet. 2001 May 15;10(11):1129-1139.

ページのトップへ戻る


2000年以前

  • Nishino I, Fu J, Tanji K, Yamada T, Shimojo S, Koori T, Mora M, Riggs JE, Oh SJ, Koga Y, Sue CM, Yamamoto A, Murakami N, Shanske S, Byrne E, Bonilla E, Nonaka I, DiMauro S, Hirano M.
    Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).
    Nature. 2000 Aug 24;406(6798):906-910.

  • Papadopoulou LC, Sue CM, Davidson M, Tanji K, Nishino I, Sadlock J, Selby J, Glerum DM, Van Coster R, Lyon G, Scalais E, Lebel R, Kaplan P, Shanske S, De Vivo DC, Bonilla E, Hirano M, DiMauro S, Schon EA.
    Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a human COX assembly gene.
    Nat Genet. 1999 Nov;23(3):333-337.

  • Nishino I, Spinazzola A, Hirano M.
    Thymidine phosphorylase gene mutations associated with MNGIE, a human mitochondrial disorder.
    Science. 1999 Jan 29;283(5402):689-692.

  • Hayashi YK, Chou FL, Engvall E, Ogawa M, Matsuda C, Hirabayashi S, Yokochi K, Ziober BL, Kramer RH, Kaufman SJ, Ozawa E, Goto Y, Nonaka I, Tsukahara T, Wang JZ, Hoffman EP, Arahata K.
    Mutations in the integrin alpha7 gene cause congenital myopathy.
    Nat Genet. 1998 May;19(1):94-97.

  • Hayashi YK, Ishihara T, Domen K, Hori H, Arahata K.
    A benign allelic form of laminin alpha 2 chain deficient muscular dystrophy.
    Lancet. 1997 Apr 19;349(9059):1147.

  • Nagano A, Koga R, Ogawa M, Kurano Y, Kawada J, Okada R, Hayashi YK, Tsukahara T, Arahata K.
    Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy.
    Nat Genet. 1996 Mar;12(3):254-259.

  • Noguchi S, McNally EM, Ben Othmane K, Hagiwara Y, Mizuno Y, Yoshida M, Yamamoto H, B?nnemann CG, Gussoni E, Denton PH, Kyriakides T, Middleton L, Hentati F, Ben Hamida M, Nonaka I, Vance JM, Kunkel LM, Ozawa E.
    Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy.
    Science. 1995 Nov 3;270(5237):819-822.

  • Arahata K, Hayashi YK, Mizuno Y, Yoshida M, Ozawa M.
    Dystrophin-associated glycoprotein and dystrophin co-localisation at sarcolemma in Fukuyama congenital muscular dystrophy.
    Lancet. 1993 Sep 4;342(8871):623-624.

  • Arahata K, Ishihara T, Kamakura K, Tsukahara T, Ishiura S, Baba C, Matsumoto T, Nonaka I, Sugita H.
    Mosaic expression of dystrophin in symptomatic carriers of Duchenne's muscular dystrophy.
    N Engl J Med. 1989 Jan 19;320(3):138-142.

  • Arahata K, Ishiura S, Ishiguro T, Tsukahara T, Suhara Y, Eguchi C, Ishihara T, Nonaka I, Ozawa E, Sugita H.
    Immunostaining of skeletal and cardiac muscle surface membrane with antibody against Duchenne muscular dystrophy peptide.
    Nature. 1988 Jun 30;333(6176):861-863.