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. 2017 Sep;56(3):479-485.
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.
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