2022-10-01

原著

Kakinuma Y, Amano R, Ishida A, Nishino I, Taki K: Muscle magnetic resonance imaging abnormality in neuroleptic malignant syndrome: a case report. BMC Neurol. 22(1):396. Oct, 2022 doi: 10.1186/s12883-022-02937-2. PMID: 36309650
 

2022-09-14

学会発表

Nishimori Y, Iida A, Ogasawara M, Okubo M, Yonenobu Y, Kinoshita M, Sugie K, Noguchi S, Nishino I: TNNI1 mutated in autosomal dominant proximal arthrogryposis. MYOLOGY 2022 (Nice Acropolis Congress Center), Nice, France, 9.14, 2022(9.12-9.15) poster

2022-09-01

総説・著書

青原健太, 木村裕子, 武田景敏, 泉家康宏, 西野一三, 伊藤義彰: Four and a half LIM domains 1（FHL1）遺伝子変異によるミオパチーのため四肢筋力低下の自覚なく呼吸不全をきたした兄弟例. 臨床神経学. 62(9):726-731, Sep, 2022 doi: 10.5692/clinicalneurol.cn-001761. PMID: 36031379 
 

2022-09-01

原著

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. 44(8):578-582. Sep, 2022 doi: 10.1016/j.braindev.2022.04.006. PMID: 35527075
 

2022-09-01

原著

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. 24(1):49-54. Sep, 2022 doi: 10.1097/CND.0000000000000392. PMID: 36005473
 

2022-09-01

原著

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. 9(5):619-627. Sep, 2022 doi: 10.3233/JND-220792. PMID: 35964201
 

2022-09-01

原著

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. 440:120340. Sep, 2022 doi: 10.1016/j.jns.2022.120340. PMID: 35849899
 

2022-09-01

原著

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. 10(9):e2008. Sep 2022 doi: 10.1002/mgg3.2008. PMID: 3575796

2022-09-01

原著

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. 32(9):769-773. Sep, 2022 doi: 10.1016/j.nmd.2022.05.010. PMID: 35710611
 

2022-08-01

原著

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. 269(8):4129-4140. Aug, 2022 doi: 10.1007/s00415-022-11026-w. PMID: 35235001