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Publications (Updated May 2, 2023)

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2022

Yoshioka W, Iida A, Sonehara K, Yamamoto K, Oya Y, Mori-Yoshimura M, Kurashige T, Okubo M, Ogawa M, Matsuda F, Higasa K, Hayashi S, Nakamura H, Sekijima M, Okada Y, Noguchi S, Nishino I.
Multidimensional analyses of the pathomechanism caused by the non-catalytic GNE variant, c.620A>T, in patients with GNE myopathy.
Sci Rep. 2022 Dec 16;12(1):21806.
Ogasawara M, Eura N, Iida A, Kumutpongpanich T, Minami N, Nonaka I, Hayashi S, Noguchi S, Nishino I.
Intranuclear inclusions in muscle biopsy can differentiate oculopharyngodistal myopathy and oculopharyngeal muscular dystrophy.
Acta Neuropathol Commun. 2022 Dec 7;10(1):176.
Mori-Yoshimura M, Yajima H, Oya Y, Mizuno K, Noguchi S, Nishino I, Takahashi Y.
Long-term evaluation parameters in GNE myopathy: a 5-year observational follow-up natural history study.
BMJ Neurol Open. 2022 Dec 1;4(2):e000362. eCollection 2022.
Hiramuki Y, Kure Y, Saito Y, Ogawa M, Ishikawa K, Mori-Yoshimura M, Oya Y, Takahashi Y, Kim D-S , Arai N, Mori C, Matsumura T, Hamano T, Nakamura K, Ikezoe K, Hayashi S, Goto Y, Noguchi S, Nishino I.
Simultaneous measurement of the size and methylation of chromosome 4qA-D4Z4 repeats in facioscapulohumeral muscular dystrophy by long-read sequencing.
J Transl Med. 2022 Nov 8;20(1):517.
Eura N, Iida A, Ogasawara M, Hayashi S, Noguchi S, Nishino I.
RILPL1-related OPDM is absent in a Japanese cohort.
Am J Hum Genet. 2022 Nov 3;109(11):2088-2089.
Kakinuma Y, Amano R, Ishida A, Nishino I, Taki K.
Muscle magnetic resonance imaging abnormality in neuroleptic malignant syndrome: a case report.
BMC Neurol. 2022 Oct 29;22(1):396.
Tsuboi Y, Oyama K, Kobirumaki-Shimozawa F, Murayama T, Kurebayashi N, Tachibana T, Manome Y, Kikuchi E, Noguchi S, Inoue T, Inoue YU, Nishino I, Mori S, Ishida R, Kagechika H, Suzuki M, Fukuda N, Yamazawa T.
Mice with R2509C-RYR1 mutation exhibit dysfunctional Ca2+ dynamics in primary skeletal myocytes.
J Gen Physiol. 2022 Nov 7;154(11):e202213136. Epub 2022 Oct 6.
Akaba Y, Takeguchi R, Tanaka R, Makita Y, Kimura T, Yanagi K, Kaname T, Nishino I, Takahashi S.
Wide Spectrum of Cardiac Phenotype in Myofibrillar Myopathy Associated With a Bcl-2-Associated Athanogene 3 Mutation: A Case Report and Literature Review.
J Clin Neuromuscul Dis. 2022 Sep 1;24(1):49-54.
Kondo H, Tsuji Y, Lee T, Saito Y, Nishino I.
Severe congenital myasthenic syndrome with novel variants in the CHRND gene.
Pediatr Int. 2022 Jan;64(1):e15342.
Ohsawa Y, Ohtsubo H, Saito Y, Nishimatsu SI, Hagiwara H, Murakami T, Nishino I, Sunada Y.
Caveolin 3 suppresses phosphorylation-dependent activation of sarcolemmal nNOS.
Biochem Biophys Res Commun. 2022 Nov 5;628:84-90. Epub 2022 Aug 27.
Sakai K, Hayashi K, Saito Y, Kanemoto M, Nishino I, Yamada M, Ono K.
Late-onset centronuclear myopathy caused by a heterozygous variant of DNM2 (c.1852G>C, p.A618P).
Neurol Clin Neurosci. 2022 Aug 25. [Online ahead of print]
Takahashi J, Mori-Yoshimura M, Ariga H, Sato N, Nishino I, Takahashi Y.
Diagnostic Yield of Chilaiditi's Sign in Advanced-Phase Late-Onset Pompe Disease.
J Neuromuscul Dis. 2022;9(5):619-627.
Yoshioka N, Kurose M, Yano M, Tran DM, Okuda S, Mori-Ochiai Y, Horie M, Nagai T, Nishino I, Shibata S, Takebayashi H.
Isoform-specific mutation in Dystonin-b gene causes late-onset protein aggregate myopathy and cardiomyopathy.
Elife. 2022 Aug 9;11:e78419.
Oyama K, Zeeb V, Yamazawa T, Kurebayashi N, Kobirumaki-Shimozawa F, Murayama T, Oyamada H, Noguchi S, Inoue T, Inoue YU, Nishino I, Harada Y, Fukuda N, Ishiwata S, Suzuki M.
Heat-hypersensitive mutants of ryanodine receptor type 1 revealed by microscopic heating.
Proc Natl Acad Sci U S A. 2022 Aug 9;119(32):e2201286119. Epub 2022 Aug 4.
Schiava M, Ikenaga C, Villar-Quiles RN, Caballero-Ávila M, Topf A, Nishino I, Kimonis V, Udd B, Schoser B, Zanoteli E, Souza PVS, Tasca G, Lloyd T, Lopez-de Munain A, Paradas C, Pegoraro E, Nadaj-Pakleza A, De Bleecker J, Badrising U, Alonso-Jiménez A, Kostera-Pruszczyk A, Miralles F, Shin JH, Bevilacqua JA, Olivé M, Vorgerd M, Kley R, Brady S, Williams T, Domínguez-González C, Papadimas GK, Warman J, Claeys KG, de Visser M, Muelas N, LaForet P, Malfatti E, Alfano LN, Nair SS, Manousakis G, Kushlaf HA, Harms MB, Nance C, Ramos-Fransi A, Rodolico C, Hewamadduma C, Cetin H, García-García J, Pál E, Farrugia ME, Lamont PJ, Quinn C, Nedkova-Hristova V, Peric S, Luo S, Oldfors A, Taylor K, Ralston S, Stojkovic T, Weihl C, Diaz-Manera J; VCP International Study Group; VCP International Study Group.
Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.
J Neurol Neurosurg Psychiatry. 2022 Jul 27:jnnp-2022-328921. [Online ahead of print]
Saito Y, Takeshita E, Komaki H, Nishino I, Sasaki M.
Determining neurodevelopmental manifestations in Duchenne muscular dystrophy using a battery of brief tests.
J Neurol Sci. 2022 Sep 15;440:120340. Epub 2022 Jul 13.
Matsumoto A, Tsuda H, Furui S, Kawada-Nagashima M, Anzai T, Seki M, Watanabe K, Muramatsu K, Osaka H, Iwamoto S, Nishino I, Yamagata T.
A case of congenital fiber-type disproportion syndrome presenting dilated cardiomyopathy with ACTA1 mutation.
Mol Genet Genomic Med. 2022 Sep;10(9):e2008. Epub 2022 Jun 27.
Saito Y, Baba S, Komaki H, Nishino I.
A 7-year-old female with hypotonia and scoliosis.
Brain Pathol. 2022 Nov;32(6):e13076. Epub 2022 Jun 5.
Nagamori T, Ishibazawa E, Yoshida Y, Izumi K, Sato M, Ichimura Y, Okiyama N, Nishino I, Azuma H.
A Continuous Increase in CXC-Motif Chemokine Ligand 10 in a Case of Anti-Nuclear Matrix Protein-2-Positive Juvenile Dermatomyositis.
J Med Cases. 2022 Jun;13(6):290-296.Epub 2022 Jun 2.
Mori-Yoshimura M, Aizawa K, Oya Y, Saito Y, Fukuda T, Sugie H, Nishino I, Takahashi Y.
A 78-year-old Japanese male with late-onset PHKA1-associated distal myopathy: Case report and literature review.
Neuromuscul Disord. 2022 Sep;32(9):769-773. Epub 2022 May 24.
Noda Y, Mukaida K, Miyoshi H, Nakamura R, Yasuda T, Saeki N, Nishino I, Tsutsumi YM.
The effects of dantrolene in the presence or absence of ryanodine receptor type 1 variants in individuals predisposed to malignant hyperthermia.
Anaesth Intensive Care. 2022 Jul;50(4):312-319. Epub 2022 May 12
Yamamoto K, Ohashi K, Fujimoto M, Ieda D, Nakamura Y, Hattori A, Kaname T, Ieda K, Nishino I, Saitoh S.
Long-term follow-up of a patient with autosomal dominant lower extremity-predominant spinal muscular atrophy-2 due to a BICD2 variant.
Brain Dev. 2022 Sep;44(8):578-582. Epub 2022 May 6.
Kim HJ, Mohassel P, Donkervoort S, Guo L, O'Donovan K, Coughlin M, Lornage X, Foulds N, Hammans SR, Foley AR, Fare CM, Ford AF, Ogasawara M, Sato A, Iida A, Munot P, Ambegaonkar G, Phadke R, O'Donovan DG, Buchert R, Grimmel M, Töpf A, Zaharieva IT, Brady L, Hu Y, Lloyd TE, Klein A, Steinlin M, Kuster A, Mercier S, Marcorelles P, Péréon Y, Fleurence E, Manzur A, Ennis S, Upstill-Goddard R, Bello L, Bertolin C, Pegoraro E, Salviati L, French CE, Shatillo A, Raymond FL, Haack TB, Quijano-Roy S, Böhm J, Nelson I, Stojkovic T, Evangelista T, Straub V, Romero NB, Laporte J, Muntoni F, Nishino I, Tarnopolsky MA, Shorter J, Bönnemann CG, Taylor JP.
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy.
Nat Commun. 2022 Apr 28;13(1):2306.
Saito Y, Nakamura K, Fukuda T, Sugie H, Hayashi S, Noguchi S, Nishino I.
Muscle biochemical and pathological diagnosis in Pompe disease.
J Neurol Neurosurg Psychiatry. 2022 Apr 25:jnnp-2022-329085. [Online ahead of print]
Nishiyori R, Saito K, Ishibashi M, Matsubara E, Okuhiro K, Takano K, Imadome KI, Takaji R, Nishino I, Nishida H, Daa T, Oki R, Shimizu F, Goto-Umeki M, Goto M, Hatano Y.
A case of orofacial swelling accompanied by sarcoid-like reaction due to chronic active Epstein-Barr virus infection.
Eur J Dermatol. 2022 Apr 1;32(2):277-278.
Hiramatsu Y, Okamoto Y, Yoshimura A, Yuan JH, Ando M, Higuchi Y, Hashiguchi A, Matsuura E, Nozaki F, Kumada T, Murayama K, Suzuki M, Yamamoto Y, Matsui N, Miyazaki Y, Yamaguchi M, Suzuki Y, Mitsui J, Ishiura H, Tanaka M, Morishita S, Nishino I, Tsuji S, Takashima H.
Complex hereditary peripheral neuropathies caused by novel variants in mitochondrial-related nuclear genes.
J Neurol. 2022 Aug;269(8):4129-4140. Epub 2022 Mar 2.
Hama Y, Mori-Yoshimura M, Aizawa K, Oya Y, Nakamura H, Inoue M, Iida A, Sato N, Nonaka I, Nishino I, Takahashi Y.
Myoglobinopathy affecting facial and oropharyngeal muscles.
Neuromuscul Disord. 2022 Jun;32(6):516-520. Epub 2022 Feb 24.
Sano T, Kawazoe T, Shioya A, Mori-Yoshimura M, Oya Y, Maruo K, Nishino I, Hoshino M, Murayama S, Saito Y.
Unique Lewy pathology in myotonic dystrophy type 1.
Neuropathology. 2022 Apr;42(2):104-116. Epub 2022 Feb 23.
Mori-Yoshimura M, Aizawa K, Shigemoto Y, Ishihara N, Minami N, Nishino I, Yoshida S, Sato N, Takahashi Y.
Frontal lobe-dominant cerebral blood flow reduction and atrophy can be progressive in Duchenne muscular dystrophy.
Neuromuscul Disord. 2022 Jun;32(6):477-485. Epub 2022 Feb 21.
Sehara Y, Tsuchiya K, Nishino I, Sato H, Ando Y.
Resection of Gastric Cancer Remitted Anti-signal Recognition Particle Myopathy.
Intern Med. 2022 Aug 15;61(16):2509-2515. Epub 2022 Feb 1.
Vengalil S, Polavarapu K, Preethish-Kumar V, Nashi S, Arunachal G, Chawla T, Bardhan M, Mohan D, Christopher R, Bevinahalli N, Kulanthaivelu K, Nishino I, Faruq M, Nalini A.
Mutation Spectrum of Primary Lipid Storage Myopathies.
Ann Indian Acad Neurol. 2022 Jan-Feb;25(1):106-113. Epub 2022 Feb 1.
Yamazawa H, Takeda A, Izumi G, Komaki H, Nishino I.
Sudden cardiac death prevention in an Emery-Dreifuss muscular dystrophy patient.
Pediatr Int. 2022 Jan;64(1):e15204.
Fujii K, Hirano M, Terayama A, Inada R, Saito Y, Nishino I, Nagai Y.
Identification of a novel mutation and genotype-phenotype relationship in MEGF10 myopathy.
Neuromuscul Disord. 2022 May;32(5):436-440. Epub 2022 Jan 31.
Miyana K, Ishiyama A, Saito Y, Nishino I.
Tulobuterol is a potential therapeutic drug in congenital myasthenic syndrome.
Pediatr Int. 2022 Jan;64(1):e15115.
Fujise K, Okubo M, Abe T, Yamada H, Takei K, Nishino I, Takeda T, Noguchi S.
Imaging-based evaluation of pathogenicity by novel DNM2 variants associated with centronuclear myopathy.
Hum Mutat. 2022 Feb;43(2):169-179. Epub 2021 Dec 19.
Ichimura Y, Konishi R, Shobo M, Inoue S, Okune M, Maeda A, Tanaka R, Kubota N, Matsumoto I, Ishii A, Tamaoka A, Shimbo A, Mori M, Morio T, Kishi T, Miyamae T, Tanboon J, Inoue M, Nishino I, Fujimoto M, Nomura T, Okiyama N.
Reliability of antinuclear matrix protein 2 antibody assays in idiopathic inflammatory myopathies is dependent on target protein properties.
J Dermatol. 2022 Apr;49(4):441-447. Epub 2021 Dec 29.
Ogasawara M, Eura N, Nagaoka U, Sato T, Arahata H, Hayashi T, Okamoto T, Takahashi Y, Mori-Yoshimura M, Oya Y, Nakamura A, Shimazaki R, Sano T, Kumutpongpanich T, Minami N, Hayashi S, Noguchi S, Iida A, Takao M, Nishino I.
Intranuclear inclusions in skin biopsies are not limited to neuronal intranuclear inclusion disease but can also be seen in oculopharyngodistal myopathy.
Neuropathol Appl Neurobiol. 2022 Apr;48(3):e12787. Epub 2021 Dec 28.
Kobayashi T, Nakano T, Ogata H, Sato N, Yamaide F, Yamashita Y, Chikaraishi K, Hino M, Nishino I, Ichimura Y, Okiyama N, Hamada H.
A 10-year-old girl with low-grade B cell lymphoma complicated by anti-nuclear matrix protein 2 autoantibody-positive juvenile dermatomyositis.
Rheumatology (Oxford). 2022 May 30;61(6):e143-e145.
Tanboon J, Inoue M, Saito Y, Tachimori H, Hayashi S, Noguchi S, Okiyama N, Fujimoto M, Nishino I.
Dermatomyositis: Muscle Pathology According to Antibody Subtypes.
Neurology. 2022 Feb 15;98(7):e739-e749. Epub 2021 Dec 6.
Yoshioka W, Shimizu R, Takahashi Y, Oda Y, Yoshida S, Ishihara N, Nishino I, Nakamura H, Mori-Yoshimura M.
Extra-muscular manifestations in GNE myopathy patients: A nationwide repository questionnaire survey in Japan.
Clin Neurol Neurosurg. 2022 Jan;212:107057. Epub 2021 Nov 25.
Ito M, Shima S, Nagao R, Nakano S, Esaka K, Ueda A, Maeda S, Moriya R, Kondo M, Imaizumi K, Noda S, Katsuno M, Nishino I, Watanabe H.
Nemaline Myopathy Initially Diagnosed as Right Heart Failure with Type 2 Respiratory Failure.
Intern Med. 2022 Jun 15;61(12):1897-1901. Epub 2021 Nov 13.
Oda S, Mori-Yoshimura M, Oya Y, Sato N, Nishino I, Takahashi Y.
A case of delayed diagnosis of Becker muscular dystrophy due to underlying developmental disorders.
Brain Dev. 2022 Mar;44(3):259-262. Epub 2021 Nov 12.
Mori-Yoshimura M, Kimura A, Tsuru A, Yajima H, Segawa K, Mizuno K, Oya Y, Noguchi S, Nishino I, Takahashi Y.
Assessment of thrombocytopenia, sleep apnea, and cardiac involvement in GNE myopathy patients.
Muscle Nerve. 2022 Mar;65(3):284-290. Epub 2021 Nov 12.
Munot P, McCrea N, Torelli S, Manzur A, Sewry C, Chambers D, Feng L, Ala P, Zaharieva I, Ragge N, Roper H, Marton T, Cox P, Milev MP, Liang WC, Maruyama S, Nishino I, Sacher M, Phadke R, Muntoni F.
TRAPPC11-related muscular dystrophy with hypoglycosylation of alpha-dystroglycan in skeletal muscle and brain.
Neuropathol Appl Neurobiol. 2022 Feb;48(2):e12771. Epub 2021 Nov 11.
Masuzawa R, Takahashi K, Takano K, Nishino I, Sakai T, Endo T.
DA-Raf and the MEK inhibitor trametinib reverse skeletal myocyte differentiation inhibition or muscle atrophy caused by myostatin and GDF11 through the non-Smad Ras-ERK pathway.
J Biochem. 2022 Jan 7;171(1):109-122.
Sano Y, Ota S, Oishi M, Honda M, Omoto M, Kawai M, Okubo M, Nishino I, Kanda T.
A Japanese Patient with Hereditary Myopathy with Early Respiratory Failure Due to the p.P31732L Mutation of Titin.
Intern Med.2022 May 15;61(10):1587-1592.Epub 2021 Oct 19.
Miyahara H, Okiyama N, Okune M, Konishi R, Miyamoto M, Hara M, Iwabuchi A, Takada H, Nishino I, Nomura T.
Case of anti-nuclear matrix protein 2 antibody-positive juvenile dermatomyositis preceded by linear cutaneous lupus erythematosus on the face.
J Dermatol. 2022 Jan;49(1):e18-e19. Epub 2021 Oct 8.
Munekane A, Ohsawa Y, Fukuda T, Nishimura H, Nishimatsu SI, Sugie H, Saito Y, Nishino I, Sunada Y.
Maximal Multistage Shuttle Run Test-induced Myalgia in a Patient with Muscle Phosphorylase B Kinase Deficiency.
Intern Med. 2022 Apr 15;61(8):1241-1245. Epub 2021 Oct 5.
Kabeya Y, Okubo M, Yonezawa S, Nakano H, Inoue M, Ogasawara M, Saito Y, Tanboon J, Indrawati LA, Kumutpongpanich T, Chen YL, Yoshioka W, Hayashi S, Iwamori T, Takeuchi Y, Tokumasu R, Takano A, Matsuda F, Nishino I.
Deep convolutional neural network-based algorithm for muscle biopsy diagnosis.
Lab Invest. 2022 Mar;102(3):220-226. Epub 2021 Oct 2.
Saito M, Ogasawara M, Inaba Y, Osawa Y, Nishioka M, Yamauchi S, Atsumi K, Takeuchi S, Imai K, Motobayashi M, Misawa Y, Iida A, Nishino I.
Successful treatment of congenital myasthenic syndrome caused by a novel compound heterozygous variant in RAPSN.
Brain Dev. 2022 Jan;44(1):50-55. Epub 2021 Sep 23.
Crowe KE, Zygmunt DA, Heller K, Rodino-Klapac L, Noguchi S, Nishino I, Martin PT.
Visualizing Muscle Sialic Acid Expression in the GNED207VTgGne-/- Cmah-/- Model of GNE Myopathy: A Comparison of Dietary and Gene Therapy Approaches.
J Neuromuscul Dis. 2022;9(1):53-71.
Kawazoe T, Tobisawa S, Sugaya K, Uruha A, Miyamoto K, Komori T, Goto YI, Nishino I, Yoshihashi H, Mizuguchi T, Matsumoto N, Egawa N, Kawata A, Isozaki E.
Myoclonic Epilepsy with Ragged-red Fibers with Intranuclear Inclusions.
Intern Med. 2022 Feb 15;61(4):547-552. Epub 2021 Aug 24.
Ichimura Y, Konishi R, Shobo M, Inoue S, Okune M, Maeda A, Tanaka R, Kubota N, Matsumoto I, Ishii A, Tamaoka A, Shimbo A, Mori M, Morio T, Kishi T, Miyamae T, Tanboon J, Inoue M, Nishino I, Fujimoto M, Nomura T, Okiyama N.
Anti-nuclear matrix protein 2 antibody-positive inflammatory myopathies represent extensive myositis without dermatomyositis-specific rash.
Rheumatology (Oxford). 2022 Mar 2;61(3):1222-1227.