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Items: 1 to 50 of 525

1.

Thigh muscle MRI findings in myopathy associated with anti-mitochondrial antibody.

Minamiyama S, Ueda S, Nakashima R, Yamakado H, Sakato Y, Yamashita H, Sawamoto N, Fujimoto R, Nishino I, Urushitani M, Mimori T, Takahashi R.

Muscle Nerve. 2019 Oct 6. doi: 10.1002/mus.26731. [Epub ahead of print]

PMID:
31588577
2.

Anti-HMGCR myopathy following acute Epstein-Barr virus infection.

Shimizu T, Kondo Y, Kanazawa N, Kaneko A, Tominaga N, Nagai M, Iizuka T, Nishino I, Nishiyama K.

Muscle Nerve. 2019 Oct 6. doi: 10.1002/mus.26729. [Epub ahead of print] No abstract available.

PMID:
31588573
3.

Life-threatening muscle complications of COL4A1-related disorder.

Okano S, Shimada S, Tanaka R, Okayama A, Kajihama A, Suzuki N, Nakau K, Takahashi S, Matsumoto N, Saitsu H, Tanboon J, Nishino I, Azuma H.

Brain Dev. 2019 Sep 18. pii: S0387-7604(19)30293-1. doi: 10.1016/j.braindev.2019.09.001. [Epub ahead of print]

PMID:
31540749
4.

[Continuous hyperCKemia without calf muscle hypertrophy associated with S1 radiculopathy].

Nakamura T, Ueno T, Arai A, Suzuki C, Nishino I, Tomiyama M.

Rinsho Shinkeigaku. 2019 Sep 25;59(9):592-595. doi: 10.5692/clinicalneurol.cn-001281. Epub 2019 Aug 30. Japanese.

PMID:
31474639
5.

Safety and efficacy of intravenous bimagrumab in inclusion body myositis (RESILIENT): a randomised, double-blind, placebo-controlled phase 2b trial.

Hanna MG, Badrising UA, Benveniste O, Lloyd TE, Needham M, Chinoy H, Aoki M, Machado PM, Liang C, Reardon KA, de Visser M, Ascherman DP, Barohn RJ, Dimachkie MM, Miller JAL, Kissel JT, Oskarsson B, Joyce NC, Van den Bergh P, Baets J, De Bleecker JL, Karam C, David WS, Mirabella M, Nations SP, Jung HH, Pegoraro E, Maggi L, Rodolico C, Filosto M, Shaibani AI, Sivakumar K, Goyal NA, Mori-Yoshimura M, Yamashita S, Suzuki N, Katsuno M, Murata K, Nodera H, Nishino I, Romano CD, Williams VSL, Vissing J, Auberson LZ, Wu M, de Vera A, Papanicolaou DA, Amato AA; RESILIENT Study Group.

Lancet Neurol. 2019 Sep;18(9):834-844. doi: 10.1016/S1474-4422(19)30200-5.

PMID:
31397289
6.

Classification of idiopathic inflammatory myopathies: pathology perspectives.

Tanboon J, Nishino I.

Curr Opin Neurol. 2019 Oct;32(5):704-714. doi: 10.1097/WCO.0000000000000740.

PMID:
31369423
7.

Novel TTN mutations and muscle imaging characteristics in congenital titinopathy.

Yu M, Zhu Y, Xie Z, Zheng Y, Xiao J, Zhang W, Nishino I, Yuan Y, Wang Z.

Ann Clin Transl Neurol. 2019 Jul;6(7):1311-1318. doi: 10.1002/acn3.50831. Epub 2019 Jul 1.

8.

Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease.

Ishiura H, Shibata S, Yoshimura J, Suzuki Y, Qu W, Doi K, Almansour MA, Kikuchi JK, Taira M, Mitsui J, Takahashi Y, Ichikawa Y, Mano T, Iwata A, Harigaya Y, Matsukawa MK, Matsukawa T, Tanaka M, Shirota Y, Ohtomo R, Kowa H, Date H, Mitsue A, Hatsuta H, Morimoto S, Murayama S, Shiio Y, Saito Y, Mitsutake A, Kawai M, Sasaki T, Sugiyama Y, Hamada M, Ohtomo G, Terao Y, Nakazato Y, Takeda A, Sakiyama Y, Umeda-Kameyama Y, Shinmi J, Ogata K, Kohno Y, Lim SY, Tan AH, Shimizu J, Goto J, Nishino I, Toda T, Morishita S, Tsuji S.

Nat Genet. 2019 Aug;51(8):1222-1232. doi: 10.1038/s41588-019-0458-z. Epub 2019 Jul 22.

PMID:
31332380
9.

Dropped Head Syndrome Caused by Immune-mediated Necrotizing Myopathy.

Ueno T, Suzuki C, Nishino I, Tomiyama M.

Intern Med. 2019 Jul 22. doi: 10.2169/internalmedicine.2930-19. [Epub ahead of print] No abstract available.

10.

Anti-signal Recognition Particle Antibody-positive Necrotizing Myopathy with Secondary Cardiomyopathy: The First Myocardial Biopsy- and Multimodal Imaging-proven Case.

Takeguchi-Kikuchi S, Hayasaka T, Katayama T, Kano K, Takahashi K, Saito T, Sawada J, Minoshima A, Sakamoto N, Akasaka K, Miyokawa N, Nishino I, Ishibashi-Ueda H, Hasebe N.

Intern Med. 2019 Jul 10. doi: 10.2169/internalmedicine.2564-18. [Epub ahead of print]

11.

The updated retrospective questionnaire study of sporadic inclusion body myositis in Japan.

Suzuki N, Mori-Yoshimura M, Yamashita S, Nakano S, Murata KY, Mori M, Inamori Y, Matsui N, Kimura E, Kusaka H, Kondo T, Ito H, Higuchi I, Hashiguchi A, Nodera H, Kaji R, Tateyama M, Izumi R, Ono H, Kato M, Warita H, Takahashi T, Nishino I, Aoki M.

Orphanet J Rare Dis. 2019 Jun 26;14(1):155. doi: 10.1186/s13023-019-1122-5.

12.

Concurrent positive anti-3-hydroxy-3-methylglutaryl-coenzyme a reductase antibody with reducing body myopathy: Possible double trouble.

Tanboon J, Sanmaneechai O, Charuvanij S, Sangruchi T, Galindo-Feria AS, Lundberg IE, Ohnuki Y, Shiina T, Suzuki S, Nishino I.

Neuromuscul Disord. 2019 Jul;29(7):543-548. doi: 10.1016/j.nmd.2019.05.007. Epub 2019 May 23.

PMID:
31204143
13.

COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency.

Inoue M, Uchino S, Iida A, Noguchi S, Hayashi S, Takahashi T, Fujii K, Komaki H, Takeshita E, Nonaka I, Okada Y, Yoshizawa T, Van Lommel L, Schuit F, Goto YI, Mimaki M, Nishino I.

Ann Neurol. 2019 Aug;86(2):193-202. doi: 10.1002/ana.25517. Epub 2019 Jul 2.

PMID:
31155743
14.

Sweat retention anhidrosis associated with tubular aggregate myopathy.

Ishitsuka Y, Inoue S, Furuta J, Koguchi-Yoshioka H, Nakamura Y, Watanabe R, Okiyama N, Fujisawa Y, Enokizono T, Fukushima H, Suzuki H, Nishino I, Kosaki K, Fujimoto M.

Br J Dermatol. 2019 May 30. doi: 10.1111/bjd.18175. [Epub ahead of print] No abstract available.

PMID:
31145807
15.

Chronic sarcoid myopathy mimicking sporadic inclusion body myositis.

Miyazaki M, Mori-Yoshimura M, Yamamoto T, Oya Y, Saito Y, Nishino I, Takahashi Y.

Clin Neurol Neurosurg. 2019 Jul;182:84-86. doi: 10.1016/j.clineuro.2019.05.001. Epub 2019 May 6.

PMID:
31102909
16.

Two closely spaced mutations in cis result in Ullrich congenital muscular dystrophy.

Shimomura H, Lee T, Tanaka Y, Awano H, Itoh K, Nishino I, Takeshima Y.

Hum Genome Var. 2019 Apr 26;6:21. doi: 10.1038/s41439-019-0052-z. eCollection 2019.

17.

An autopsy case of peliosis hepatis with X-linked myotubular myopathy.

Funayama K, Shimizu H, Tanaka H, Kawachi I, Nishino I, Matsui K, Takahashi N, Koyama A, Katsuragi-Go R, Higuchi R, Aoyama T, Watanabe H, Kakita A, Takatsuka H.

Leg Med (Tokyo). 2019 May;38:77-82. doi: 10.1016/j.legalmed.2019.04.005. Epub 2019 Apr 18.

PMID:
31030121
18.

A novel compound heterozygous variant of ECHS1 identified in a Japanese patient with Leigh syndrome.

Uchino S, Iida A, Sato A, Ishikawa K, Mimaki M, Nishino I, Goto YI.

Hum Genome Var. 2019 Apr 19;6:19. doi: 10.1038/s41439-019-0050-1. eCollection 2019.

19.

Absence of sarcoplasmic myxovirus resistance protein A (MxA) expression in antisynthetase syndrome in a cohort of 194 cases.

Inoue M, Tanboon J, Okubo M, Theerawat K, Saito Y, Ogasawara M, Indrawati LA, Uruha A, Okiyama N, Fujimoto M, Suzuki S, Nishino I.

Neuropathol Appl Neurobiol. 2019 Aug;45(5):523-524. doi: 10.1111/nan.12551. Epub 2019 May 29. No abstract available.

PMID:
30959571
20.

237th ENMC International Workshop: GNE myopathy - current and future research Hoofddorp, The Netherlands, 14-16 September 2018.

Pogoryelova O, Urtizberea JA, Argov Z, Nishino I, Lochmüller H; ENMC workshop study group.

Neuromuscul Disord. 2019 May;29(5):401-410. doi: 10.1016/j.nmd.2019.02.010. Epub 2019 Mar 2. No abstract available.

PMID:
30956020
21.

Reply to: Diagnosing MELAS requires not only an mtDNA variant but also an appropriate phenotype.

Ozawa K, Mochizuki K, Manabe Y, Yoshikura N, Shimohata T, Nishino I, Goto YI.

Doc Ophthalmol. 2019 Jun;138(3):257-258. doi: 10.1007/s10633-019-09688-5. Epub 2019 Mar 30. No abstract available.

PMID:
30929107
22.

Three novel MTM1 pathogenic variants identified in Japanese patients with X-linked myotubular myopathy.

Nishikawa A, Iida A, Hayashi S, Okubo M, Oya Y, Yamanaka G, Takahashi I, Nonaka I, Noguchi S, Nishino I.

Mol Genet Genomic Med. 2019 May;7(5):e621. doi: 10.1002/mgg3.621. Epub 2019 Mar 18.

23.

Inflammatory myopathy associated with PD-1 inhibitors.

Seki M, Uruha A, Ohnuki Y, Kamada S, Noda T, Onda A, Ohira M, Isami A, Hiramatsu S, Hibino M, Nakane S, Noda S, Yutani S, Hanazono A, Yaguchi H, Takao M, Shiina T, Katsuno M, Nakahara J, Matsubara S, Nishino I, Suzuki S.

J Autoimmun. 2019 Jun;100:105-113. doi: 10.1016/j.jaut.2019.03.005. Epub 2019 Mar 10.

PMID:
30862448
24.

Phenotype of a limb-girdle congenital myasthenic syndrome patient carrying a GFPT1 mutation.

Matsumoto C, Mori-Yoshimura M, Noguchi S, Endo Y, Oya Y, Murata M, Nishino I, Takahashi Y.

Brain Dev. 2019 May;41(5):470-473. doi: 10.1016/j.braindev.2018.12.002. Epub 2019 Mar 4.

PMID:
30846217
25.

GNE genotype explains 20% of phenotypic variability in GNE myopathy.

Pogoryelova O, Wilson IJ, Mansbach H, Argov Z, Nishino I, Lochmüller H.

Neurol Genet. 2019 Feb 1;5(1):e308. doi: 10.1212/NXG.0000000000000308. eCollection 2019 Feb.

26.

Dropped Head in Sporadic Late-onset Nemaline Myopathy.

Nakamura K, Shibuya K, Nishino I, Kuwabara S.

Intern Med. 2019 Jul 1;58(13):1967-1968. doi: 10.2169/internalmedicine.2247-18. Epub 2019 Feb 25. No abstract available.

27.

Pembrolizumab-induced Ocular Myasthenia Gravis with Anti-titin Antibody and Necrotizing Myopathy.

Onda A, Miyagawa S, Takahashi N, Gochi M, Takagi M, Nishino I, Suzuki S, Oishi C, Yaguchi H.

Intern Med. 2019 Jun 1;58(11):1635-1638. doi: 10.2169/internalmedicine.1956-18. Epub 2019 Feb 1.

28.

Retinal dystrophy associated with a single-base deletion mutation in mitochondrial DNA 3271 in patient with MELAS syndrome.

Ozawa K, Mochizuki K, Manabe Y, Yoshikura N, Shimohata T, Nishino I, Goto YI.

Doc Ophthalmol. 2019 Apr;138(2):147-152. doi: 10.1007/s10633-019-09673-y. Epub 2019 Jan 30.

PMID:
30701423
29.

Correction: GNE myopathy in Chinese population: hotspot and novel mutations.

Chen Y, Xi J, Zhu W, Lin J, Luo S, Yue D, Cai S, Sun C, Zhao C, Mitsuhashi S, Nishino I, Xu M, Lu J.

J Hum Genet. 2019 Mar;64(3):269. doi: 10.1038/s10038-018-0547-3.

PMID:
30585253
30.

Efficacy of Prednisolone in Generated Myotubes Derived From Fibroblasts of Duchenne Muscular Dystrophy Patients.

Kameyama T, Ohuchi K, Funato M, Ando S, Inagaki S, Sato A, Seki J, Kawase C, Tsuruma K, Nishino I, Nakamura S, Shimazawa M, Saito T, Takeda S, Kaneko H, Hara H.

Front Pharmacol. 2018 Dec 3;9:1402. doi: 10.3389/fphar.2018.01402. eCollection 2018.

31.

RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy.

Hamanaka K, Miyatake S, Koshimizu E, Tsurusaki Y, Mitsuhashi S, Iwama K, Alkanaq AN, Fujita A, Imagawa E, Uchiyama Y, Tawara N, Ando Y, Misumi Y, Okubo M, Nakashima M, Mizuguchi T, Takata A, Miyake N, Saitsu H, Iida A, Nishino I, Matsumoto N.

Genet Med. 2019 Jul;21(7):1629-1638. doi: 10.1038/s41436-018-0360-6. Epub 2018 Nov 23.

PMID:
30467404
32.

A Nationwide Survey on Danon Disease in Japan.

Sugie K, Komaki H, Eura N, Shiota T, Onoue K, Tsukaguchi H, Minami N, Ogawa M, Kiriyama T, Kataoka H, Saito Y, Nonaka I, Nishino I.

Int J Mol Sci. 2018 Nov 8;19(11). pii: E3507. doi: 10.3390/ijms19113507.

33.

GNE myopathy in Chinese population: hotspot and novel mutations.

Chen Y, Xi J, Zhu W, Lin J, Luo S, Yue D, Cai S, Sun C, Zhao C, Mitsuhashi S, Nishino I, Xu M, Lu J.

J Hum Genet. 2019 Jan;64(1):11-16. doi: 10.1038/s10038-018-0525-9. Epub 2018 Nov 2. Erratum in: J Hum Genet. 2018 Dec 26;:.

PMID:
30390020
34.

Three novel recessive DYSF mutations identified in three patients with muscular dystrophy, limb-girdle, type 2B.

Okubo M, Iida A, Hayashi S, Mori-Yoshimura M, Oya Y, Watanabe A, Arahata H, El Sherif R, Noguchi S, Nishino I.

J Neurol Sci. 2018 Dec 15;395:169-171. doi: 10.1016/j.jns.2018.10.015. Epub 2018 Oct 16. No abstract available.

PMID:
30366248
35.

Different clinicopathological features between Japanese siblings with facioscapulohumeral muscular dystrophy 2 with a novel nonsense SMCHD1 mutation (Arg552).

Ohta Y, Tadokoro K, Sasaki R, Takahashi Y, Sato K, Takemoto M, Hishikawa N, Shang J, Yamashita T, Takehisa Y, Nishino I, Abe K.

J Clin Neurosci. 2018 Dec;58:215-217. doi: 10.1016/j.jocn.2018.10.021. Epub 2018 Oct 13.

PMID:
30327220
36.

Emery-Dreifuss muscular dystrophy-related myopathy with TMEM43 mutations.

Mukai T, Mori-Yoshimura M, Nishikawa A, Hokkoku K, Sonoo M, Nishino I, Takahashi Y.

Muscle Nerve. 2019 Feb;59(2):E5-E7. doi: 10.1002/mus.26355. Epub 2018 Nov 13. No abstract available.

PMID:
30311943
37.

Diagnostic potential of sarcoplasmic myxovirus resistance protein A expression in subsets of dermatomyositis.

Uruha A, Allenbach Y, Charuel JL, Musset L, Aussy A, Boyer O, Mariampillai K, Landon-Cardinal O, Rasmussen C, Bolko L, Maisonobe T, Leonard-Louis S, Suzuki S, Nishino I, Stenzel W, Benveniste O.

Neuropathol Appl Neurobiol. 2019 Aug;45(5):513-522. doi: 10.1111/nan.12519. Epub 2018 Nov 22.

PMID:
30267437
38.

Congenital myopathy with fiber-type disproportion accompanied by dilated cardiomyopathy in a patient with a novel p.G48A ACTA1 mutation.

Tadokoro K, Ohta Y, Sasaki R, Takahashi Y, Sato K, Shang J, Takemoto M, Hishikawa N, Yamashita T, Nakamura K, Nishino I, Abe K.

J Neurol Sci. 2018 Oct 15;393:142-144. doi: 10.1016/j.jns.2018.08.015. Epub 2018 Aug 17. No abstract available.

PMID:
30195123
39.

Characteristic findings of skeletal muscle MRI in caveolinopathies.

Ishiguro K, Nakayama T, Yoshioka M, Murakami T, Kajino S, Shichiji M, Sato T, Hino-Fukuyo N, Kuru S, Osawa M, Nagata S, Okubo M, Murakami N, Hayashi YK, Nishino I, Ishigaki K.

Neuromuscul Disord. 2018 Oct;28(10):857-862. doi: 10.1016/j.nmd.2018.07.010. Epub 2018 Jul 31.

PMID:
30174172
40.

A patient-derived iPSC model revealed oxidative stress increases facioscapulohumeral muscular dystrophy-causative DUX4.

Sasaki-Honda M, Jonouchi T, Arai M, Hotta A, Mitsuhashi S, Nishino I, Matsuda R, Sakurai H.

Hum Mol Genet. 2018 Dec 1;27(23):4024-4035. doi: 10.1093/hmg/ddy293.

41.

A novel LMNA mutation identified in a Japanese patient with LMNA-associated congenital muscular dystrophy.

Ishiyama A, Iida A, Hayashi S, Komaki H, Sasaki M, Nonaka I, Noguchi S, Nishino I.

Hum Genome Var. 2018 Jul 20;5:19. doi: 10.1038/s41439-018-0018-6. eCollection 2018.

42.

Anti-mitochondrial antibody-associated myositis with eosinophilia and dropped head.

Shimizu H, Nishino I, Ueda T, Kohara N, Nishioka H.

eNeurologicalSci. 2018 May 23;11:15-16. doi: 10.1016/j.ensci.2018.05.004. eCollection 2018 Jun. No abstract available.

43.

Zmynd17 controls muscle mitochondrial quality and whole-body metabolism.

Fujita R, Yoshioka K, Seko D, Suematsu T, Mitsuhashi S, Senoo N, Miura S, Nishino I, Ono Y.

FASEB J. 2018 Sep;32(9):5012-5025. doi: 10.1096/fj.201701264R. Epub 2018 Apr 13.

PMID:
29913553
44.

Sporadic late-onset nemaline myopathy with monoclonal gammopathy of undetermined significance (SLONM-MGUS): An alternative treatment using cyclophosphamide-thalidomide-dexamethasone (CTD) regimen.

Kumutpongpanich T, Owattanapanich W, Tanboon J, Nishino I, Boonyapisit K.

Neuromuscul Disord. 2018 Jul;28(7):610-613. doi: 10.1016/j.nmd.2018.04.011. Epub 2018 May 16.

PMID:
29910095
45.

Two novel VCP missense variants identified in Japanese patients with multisystem proteinopathy.

Inoue M, Iida A, Hayashi S, Mori-Yoshimura M, Nagaoka A, Yoshimura S, Shiraishi H, Tsujino A, Takahashi Y, Nonaka I, Hayashi YK, Noguchi S, Nishino I.

Hum Genome Var. 2018 May 30;5:9. doi: 10.1038/s41439-018-0009-7. eCollection 2018.

46.

A new familial distal myopathy in Japan with predominant upper extremities.

Takahashi Y, Ohta Y, Sasaki R, Tadokoro K, Sato K, Shang J, Takemoto M, Hishikawa N, Yamashita T, Nishino I, Abe K.

J Neurol Sci. 2018 Jul 15;390:205-207. doi: 10.1016/j.jns.2018.04.008. Epub 2018 Apr 7. No abstract available.

PMID:
29801888
47.

Interpretation of acid α-glucosidase activity in creatine kinase elevation: A case of Becker muscular dystrophy.

Oitani Y, Ishiyama A, Kosuga M, Iwasawa K, Ogata A, Tanaka F, Takeshita E, Shimizu-Motohashi Y, Komaki H, Nishino I, Okuyama T, Sasaki M.

Brain Dev. 2018 Oct;40(9):837-840. doi: 10.1016/j.braindev.2018.05.001. Epub 2018 May 16.

PMID:
29778277
48.

Transient swelling in the globus pallidus and substantia nigra in childhood suggests SENDA/BPAN.

Ishiyama A, Kimura Y, Iida A, Saito Y, Miyamoto Y, Okada M, Sato N, Nishino I, Sasaki M.

Neurology. 2018 May 22;90(21):974-976. doi: 10.1212/WNL.0000000000005564. Epub 2018 Apr 25. No abstract available.

PMID:
29695595
49.

A mild myopathy with anti-SRP plus anti-PL-12 antibodies successfully treated by oral steroid monotherapy.

Tadokoro K, Ohta Y, Sasaki R, Takahashi Y, Sato K, Shang J, Takemoto M, Hishikawa N, Yamashita T, Hayashi K, Morishita M, Nishino I, Abe K.

J Neurol Sci. 2018 May 15;388:7-9. doi: 10.1016/j.jns.2018.02.040. Epub 2018 Feb 24. No abstract available.

PMID:
29627033
50.

Characteristics of Japanese Patients with Becker Muscular Dystrophy and Intermediate Muscular Dystrophy in a Japanese National Registry of Muscular Dystrophy (Remudy): Heterogeneity and Clinical Variation.

Mori-Yoshimura M, Mitsuhashi S, Nakamura H, Komaki H, Goto K, Yonemoto N, Takeuchi F, Hayashi YK, Murata M, Takahashi Y, Nishino I, Takeda S, Kimura E.

J Neuromuscul Dis. 2018;5(2):193-203. doi: 10.3233/JND-170225.

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