Identification of de novoBSCL2 Ser90Leu mutation in a Korean family with silver syndrome and distal hereditary motor neuropathy-Reference-Cited by-同舟云学术

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Identification of de novoBSCL2 Ser90Leu mutation in a Korean family with silver syndrome and distal hereditary motor neuropathy

Published:2007 Issue:3 Volume:36 Page:384-386
ISSN:0148-639X
Container-title:Muscle & Nerve
language:en
Short-container-title:Muscle Nerve

Author:

Cho Hyun-Jung,Sung Duk-Hyun,Ki Chang-Seok

Publisher

Wiley

Subject

Physiology (medical),Cellular and Molecular Neuroscience,Clinical Neurology,Physiology

Reference12 articles.

1. Phenotypic and genotypic heterogeneity in hereditary motor neuronopathy type V: A clinical, electrophysiological and genetic study

2. Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation

3. Amyotrophy of the hands and pyramidal features of predominantly the legs segregating within one large family

4. Hereditary Spastic Paraplegias

5. The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V

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3. Evidence for Non‐Mendelian Inheritance in Spastic Paraplegia 7;Movement Disorders;2021-02-17

4. Autosomal dominant spastic paraplegias;Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova;2021

5. A De Novo BSCL2 Gene S90L Mutation in a Progressive Tetraparesis with Urinary Dysfunction and Corpus Callosum Involvement;Journal of Pediatric Genetics;2020-07-08

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