A Mutation in the Golgi Qb-SNARE Gene GOSR2 Causes Progressive Myoclonus Epilepsy with Early Ataxia-Reference-Cited by-同舟云学术

A Mutation in the Golgi Qb-SNARE Gene GOSR2 Causes Progressive Myoclonus Epilepsy with Early Ataxia

Published:2011-05 Issue:5 Volume:88 Page:657-663
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Corbett Mark A.,Schwake Michael,Bahlo Melanie,Dibbens Leanne M.,Lin Meng,Gandolfo Luke C.,Vears Danya F.,O'Sullivan John D.,Robertson Thomas,Bayly Marta A.,Gardner Alison E.,Vlaar Annemarie M.,Korenke G. Christoph,Bloem Bastiaan R.,de Coo Irenaeus F.,Verhagen Judith M.A.,Lehesjoki Anna-Elina,Gecz Jozef,Berkovic Samuel F.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference27 articles.

1. Neuronal ceroid lipofuscinoses;Jalanko;Biochim. Biophys. Acta,2009

2. Progressive myoclonus epilepsies: specific causes and diagnosis;Berkovic;N. Engl. J. Med.,1986

3. The autosomal recessively inherited progressive myoclonus epilepsies and their genes;Ramachandran;Epilepsia,2009

4. Molecular background of progressive myoclonus epilepsy;Lehesjoki;EMBO J.,2003

5. Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis;Berkovic;Am. J. Hum. Genet.,2008

Cited by 100 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. Severe Acute Motor Exacerbations (SAME) across Metabolic, Developmental and Genetic Disorders;Movement Disorders;2024-08-09

2. Compound Heterozygous Variants of GOSR2 Associated With Congenital Muscular Dystrophy and Progressive Myoclonus Epilepsy;Neurology Genetics;2024-08

3. Conventional and novel anti-seizure medications reveal a particular role for GABAA in a North Sea progressive myoclonus Epilepsy Drosophila model;Epilepsy Research;2024-07

5. Novel Genetic and Phenotypic Expansion in GOSR2-Related Progressive Myoclonus Epilepsy;Genes;2023-09-25