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.
RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy. Genet Med. 2018 Nov 23. [Epub ahead of print]
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.
A Nationwide Survey on Danon Disease in Japan. Int J Mol Sci. 2018 Nov 8;19(11).
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.
GNE myopathy in Chinese population: hotspot and novel mutations. J Hum Genet. 2018 Nov 2. [Epub ahead of print]
Okubo M, Iida A, Hayashi S, Mori-Yoshimura M, Oya Y, Watanabe A, Arahata H, El Sherif R, Noguchi S, Nishino I.
Three novel recessive DYSF mutations identified in three patients with muscular dystrophy, limb-girdle, type 2B. J Neurol Sci. 2018 Dec 15;395:169-171. Epub 2018 Oct 16.
Ohta Y, Tadokoro K, Sasaki R, Takahashi Y, Sato K, Takemoto M, Hishikawa N, Shang J, Yamashita T, Takehisa Y, Nishino I, Abe K.
Different clinicopathological features between Japanese siblings with facioscapulohumeral muscular dystrophy 2 with a novel nonsense SMCHD1 mutation (Arg552∗). J Clin Neurosci. 2018 Dec;58:215-217. Epub 2018 Oct 13.
Mukai T, Mori-Yoshimura M, Nishikawa A, Hokkoku K, Sonoo M, Nishino I, Takahashi Y.
Emery-Dreifuss Muscular Dystrophy-Related Myopathy with TMEM43 Mutations. Muscle Nerve. 2018 Oct 12. [Epub ahead of print]
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.
Diagnostic potential of sarcoplasmic MxA expression in subsets of dermatomyositis. Neuropathol Appl Neurobiol. 2018 Sep 28. [Epub ahead of print]
Tadokoro K, Ohta Y, Sasaki R, Takahashi Y, Sato K, Shang J, Takemoto M, Hishikawa N, Yamashita T, Nakamura K, Nishino I, Abe K.
Congenital myopathy with fiber-type disproportion accompanied by dilated cardiomyopathy in a patient with a novel p.G48A ACTA1 mutation. J Neurol Sci. 2018 Aug 17;393:142-144. [Epub ahead of print]
Suzuki N, Kato M, Warita H, Izumi R, Tateyama M, Kuroda H, Asada R, Suzuki A, Yamaguchi T, Nishino I, Aoki M
Phase I clinical trial results of aceneuramic acid for GNE myopathy in Japan. Trans Med Commun. 2018 Sep 3:7
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.
Characteristic findings of skeletal muscle MRI in caveolinopathies. Neuromuscul Disord. 2018 Jul 31. [Epub ahead of print]
Sasaki-Honda M, Jonouchi T, Arai M, Hotta A, Mitsuhashi S, Nishino I, Matsuda R, Sakurai H.
A Patient-derived iPSC Model Revealed Oxidative Stress Increases Facioscapulohumeral Muscular Dystrophy-causative DUX4. Hum Mol Genet. 2018 Dec 1;27(23):4024-4035
Ishiyama A, Iida A, Hayashi S, Komaki H, Sasaki M, Nonaka I, Noguchi S, Nishino I.
A novel LMNA mutation identified in a Japanese patient with LMNA-associated congenital muscular dystrophy. Hum Genome Var. 2018 Jul 20;5:19. eCollection 2018.
Takahashi Y, Ohta Y, Sasaki R, Tadokoro K, Sato K, Shang J, Takemoto M, Hishikawa N, Yamashita T, Nishino I, Abe K.
A new familial distal myopathy in Japan with predominant upper extremities. J Neurol Sci. 2018 Jul 15;390:205-207
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.
Two novel VCP missense variants identified in Japanese patients with multisystem proteinopathy. Hum Genome Var. 2018 May 30;5:9. eCollection
Kumutpongpanich T, Owattanapanich W, Tanboon J, Nishino I, Boonyapisit K.
Sporadic late-onset nemaline myopathy with monoclonal gammopathy of undetermined significance (SLONM-MGUS): An alternative treatment using cyclophosphamide-thalidomide-dexamethasone (CTD) regimen. Neuromuscul Disord. 2018 Jul;28(7):610-613. Epub 2018 May 16
Fujita R, Yoshioka K, Seko D, Suematsu T, Mitsuhashi S, Senoo N, Miura S, Nishino I, Ono Y.
Zmynd17 controls muscle mitochondrial quality and whole-body metabolism. FASEB J. 2018 Sep;32(9):5012-5025. Epub 2018 Apr 13.
Shimizu H, Nishino I, Ueda T, Kohara N, Nishioka H.
Anti-mitochondrial antibody-associated myositis with eosinophilia and dropped head. eNeurologicalSci. 2018 May 23; 11:15-16. eCollection
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.
Interpretation of acid α-glucosidase activity in creatine kinase elevation: A case of Becker muscular dystrophy. Brain Dev. 2018 Oct;40(9):837-840. Epub 2018 May 16.
Ishiyama A, Kimura Y, Iida A, Saito Y, Miyamoto Y, Okada M, Sato N, Nishino I, Sasaki M.
Transient swelling in the globus pallidus and substantia nigra in childhood suggests SENDA/BPAN. Neurology. 2018 May 22;90(21):974-976. Epub 2018 Apr 25.
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.
A mild myopathy with anti-SRP plus anti-PL-12 antibodies successfully treated by oral steroid monotherapy. J Neurol Sci. 2018 May 15;388:7-9.
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.
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. J Neuromuscul Dis. 2018;5(2):193-203.
Leoyklang P, Class B, Noguchi S, Gahl WA, Carrillo N, Nishino I, Huizing M, Malicdan MC.
Quantification of Lectin Fluorescence in GNE Myopathy Muscle Biopsies. Muscle Nerve. 2018 Aug;58(2):286-292. Epub 2018 Apr 23.
Thavorntanaburt S, Tanboon J, Likasitwattanakul S, Sangruchi T, Nishino I, Ngerncham M, Tantemsapya N, Sanmaneechai O.
Impact of muscle biopsy on diagnosis and management of children with neuromuscular diseases: A 10-year retrospective critical review. J Pediatr Surg. 2018 Mar;53(3):489-492. Epub 2017 Jun 16.
Hatazawa Y, Ono Y, Hirose Y, Kanai S, Fujii NL, Machida S, Nishino I, Shimizu T, Okano M, Kamei Y, Ogawa Y.
Reduced Dnmt3a increases Gdf5 expression with suppressed satellite cell differentiation and impaired skeletal muscle regeneration. FASEB J. 2018 Mar;32(3):1452-1467.
Kubota A, Ishiura H, Mitsui J, Sakuishi K, Iwata A, Yamamoto T, Nishino I, Tsuji S, Shimizu J.
A Homozygous LAMA2 Mutation of c.818G>A Caused Partial Merosin Deficiency in a Japanese patient. Intern Med. 2018 Mar 15;57(6):877-882. Epub 2017 Dec 8.
Pogoryelova O, Cammish P, Mansbach H, Argov Z, Nishino I, Skrinar A, Chan Y, Nafissi S, Shamshiri H, Kakkis E, Lochmuller H.
Phenotypic stratification and genotype-phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion. Neuromuscul Disord. 2018 Feb;28(2):158-168.
Zhu W, Eto M, Mitsuhashi S, Takata K, Beck G, Sumi-Akamaru H, Mochizuki H, Sakoda S, Takahashi MP, Nishino I.
GNE myopathy caused by a synonymous mutation leading to aberrant mRNA splicing. Neuromuscul Disord. 2018 Feb;28(2):154-157.
Mori-Yoshimura M, Mizuno Y, Yoshida S, Minami N, Yonemoto N, Takeuchi F, Nishino I, Murata M, Takeda S, Takahashi Y, Kimura E.
Social involvement issues in patients with Becker muscular dystrophy: A questionnaire survey of subjects from a patient registry. Brain Dev. 2018 Apr;40(4):268-277.
Nguyen HT, Noguchi S, Sugie K, Matsuo Y, Nguyen CTH, Koito H, Shiojima I, Nishino I, Tsukaguchi H.
Small-Vessel Vasculopathy Due to Aberrant Autophagy in LAMP-2 Deficiency. Sci Rep. 2018 Feb 20;8(1):3326.
Matsubara S, Bokuda K, Asano Y, Morishima R, Sugaya K, Miyamoto K, Koide R, Komori T, Suzuki S, Nishino I.
Mitophagy in three cases of immune-mediated necrotizing myopathy associated with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase autoantibodies: ultrastructural and immunohistochemical studies. Neuromuscul Disord. 2018 Mar;28(3):283-288. Epub 2018 Jan 11.
Suzuki S, Uruha A, Nishino I.
New Criteria Needed for Antisynthetase Syndrome-Reply. JAMA Neurol. 2018 Feb 1;75(2):259-260.
Ishiyama A, Muramatsu K, Uchino S, Sakai C, Matsushima Y, Makioka N, Ogata T, Suzuki E, Komaki H, Sasaki M, Mimaki M, Goto YI, Nishino I.
NDUFAF3 Variants that Disrupt Mitochondrial Complex I Assembly may associate with Cavitating Leukoencephalopathy. Clin Genet. 2018 May;93(5):1103-1106. Epub 2018 Feb 11.
Kondo T, Yasuda T, Mukaida K, Otsuki S, Kanzaki R, Miyoshi H, Hamada H, Nishino I, Kawamoto M.
Genetic and functional analysis of the RYR1 mutation p.Thr84Met revealed a susceptibility to malignant hyperthermia. J Anesth. 2018 Apr;32(2):174-181. Epub 2018 Jan 17.
Allenbach Y, Mammen AL, Benveniste O, Stenzel W, Nishino I; Immune-Mediated Necrotizing Myopathies Working Group.
224th ENMC International Workshop:: Clinico-sero-pathological classification of immune-mediated necrotizing myopathies Zandvoort, The Netherlands, 14-16 October 2016. Neuromuscul Disord. 2018 Jan;28(1):87-99. Epub 2017 Oct 23.
Cortese A, Laura M, Casali C, Nishino I, Hayashi YK, Magri S, Taroni F, Stuani C, Saveri P, Moggio M, Ripolone M, Prelle A, Pisciotta C, Sagnelli A, Pichiecchio A, Reilly MM, Buratti E, Pareyson D.
Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy. Eur J Neurol. 2018 Jan;25(1):154-163.
Tanboon J, Uruha A, Hamanaka K, Hasegawa J, Nishino I.
A 62-Year-Old Woman with A History of Muscle Pain and Skin Rash for 1 Month. Brain Pathol. 2018 Jan;28(1):121-122. doi: 10.1111/bpa.12574. No abstract available.
Uruha A, Hayashi YK, Mori-Yoshimura M, Oya Y, Kanai M, Murata M, Nishino I.
A 31-Year-Old Man with Slowly Progressive Limb Muscle Weakness and Respiratory Insufficiency. Brain Pathol. 2018 Jan;28(1):123-124. doi: 10.1111/bpa.12575. No abstract available.