Novel BICD2 mutation in a Japanese family with autosomal dominant lower extremity-predominant spinal muscular atrophy-2-Reference-Cited by-同舟云学术

Novel BICD2 mutation in a Japanese family with autosomal dominant lower extremity-predominant spinal muscular atrophy-2

Published:2018-04 Issue:4 Volume:40 Page:343-347
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

Yoshioka Mieko^ORCID,Morisada Naoya,Toyoshima Daisaku,Yoshimura Hajime,Nishio Hisahide,Iijima Kazumoto,Takeshima Yasuhiro,Uehara Tomoko,Kosaki Kenjiro

Publisher

Elsevier BV

Subject

Clinical Neurology,Developmental Neuroscience,General Medicine,Pediatrics, Perinatology, and Child Health

Reference10 articles.

1. The genetics of spinal muscular atrophy: progress and challenges;Farrar;Neurotherapeutics,2015

2. Evidence of autosomal dominant mutations in childhood-onset proximal spinal muscular atrophy;Rudnik-Schoneborn;Am J Hum Genet,1994

3. Congenital autosomal dominant distal spinal muscular atrophy;Adams;Neuromuscul Disord,1998

4. Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy;Harms;Neurology,2012

5. Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy;Neveling;Am J Hum Genet,2013

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