Single-fiber electromyography-based diagnosis of CACNA1A mutation in children: A potential role of the electrodiagnosis in the era of whole exome sequencing-Reference-Cited by-同舟云学术

Single-fiber electromyography-based diagnosis of CACNA1A mutation in children: A potential role of the electrodiagnosis in the era of whole exome sequencing

Published:2019-11 Issue:10 Volume:41 Page:905-909
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

Hirasawa-Inoue Ayaka,Ishiyama Akihiko,Takeshita Eri,Shimizu-Motohashi Yuko,Saito Takashi,Komaki Hirofumi,Nakagawa Eiji,Yuasa Shota,Saitsu Hirotomo,Hamanaka Kohei,Miyatake Satoko,Matsumoto Naomichi,Sasaki Masayuki

Funder

NCNP

Japan Agency for Medical Research and Development

JSPS

Takeda Science Foundation

Publisher

Elsevier BV

Subject

Neurology (clinical),Developmental Neuroscience,General Medicine,Pediatrics, Perinatology and Child Health

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5. Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic;Hamanaka;J Hum Genet,2018

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