BSCL2 S90L mutation in a Chinese family with Silver syndrome with a review of the literature-Reference-Cited by-同舟云学术

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BSCL2 S90L mutation in a Chinese family with Silver syndrome with a review of the literature

Published:2015-02 Issue:2 Volume:22 Page:429-430
ISSN:0967-5868
Container-title:Journal of Clinical Neuroscience
language:en
Short-container-title:Journal of Clinical Neuroscience

Author:

Cen Zhidong,Lu Xingjiao,Wang Zhenzhen,Ouyang Zhiyuan,Xie Fei,Luo Wei

Funder

National Natural Science Foundation of China

Zhejiang Leading Team of Science and Technology Innovation

Publisher

Elsevier BV

Subject

Physiology (medical),Neurology (clinical),Neurology,General Medicine,Surgery

Reference10 articles.

1. Familial spastic paraplegia with amyotrophy of the hands;Silver;Ann Hum Genet,1966

2. Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome;Windpassinger;Nat Genet,2004

3. The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V;Irobi;Brain,2004

4. Phenotypes of the N88S Berardinelli–Seip congenital lipodystrophy 2 mutation;Auer-Grumbach;Ann Neurol,2005

5. Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome;Rohkamm;J Neurol Sci,2007

Cited by 5 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

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

2. 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

3. Lipid metabolic pathways converge in motor neuron degenerative diseases;Brain;2019-12-18

4. The First Report of a Japanese Case of Seipinopathy with a BSCL2 N88S Mutation;Internal Medicine;2018

5. ALS and MMN mimics in patients with BSCL2 mutations: the expanding clinical spectrum of SPG17 hereditary spastic paraplegia;Journal of Neurology;2016-10-13

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