Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene–disease associations and unanticipated rare disorders-Reference-Cited by-同舟云学术

Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene–disease associations and unanticipated rare disorders

Published:2016-05-11 Issue:10 Volume:24 Page:1460-1466
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

van de Warrenburg Bart P,Schouten Meyke I,de Bot Susanne T,Vermeer Sascha,Meijer Rowdy,Pennings Maartje,Gilissen Christian,Willemsen Michèl AAP,Scheffer Hans,Kamsteeg Erik-Jan

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg201642.pdf

Reference45 articles.

1. Nemeth AH, Kwasniewska AC, Lise S et al: Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model. Brain 2013; 136: 3106–3118.

2. Ohba C, Osaka H, Iai M et al: Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood. Neurogenetics 2013; 14: 225–232.

3. Novarino G, Fenstermaker AG, Zaki MS et al: Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science 2014; 343: 506–511.

4. Fogel BL, Lee H, Deignan JL et al: Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia. JAMA Neurol 2014; 71: 1237–1246.

5. Neveling K, Feenstra I, Gilissen C et al: A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases. Hum Mutat 2013; 34: 1721–1726.

Cited by 86 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. A Novel MAG Variant Causes Hereditary Spastic Paraplegia in a Consanguineous Pakistani Family;Genes;2024-09-13

2. Cryo-EM unveils kinesin KIF1A’s processivity mechanism and the impact of its pathogenic variant P305L;Nature Communications;2024-07-02

3. Vcp overexpression and leucine supplementation extend lifespan and ameliorate neuromuscular junction phenotypes of a SOD1G93A-ALS mouse model;Human Molecular Genetics;2024-02-21

4. Hereditary spastic paraparesis type 46 (SPG46): new GBA2 variants in a large Italian case series and review of the literature;Neurogenetics;2024-02-09

5. An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP;The American Journal of Human Genetics;2023-11