A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia.
about
Using familial information for variant filtering in high-throughput sequencing studiesGolgi defects enhance APP amyloidogenic processing in Alzheimer's diseaseEarly-onset Lafora body diseaseDating rare mutations from small samples with dense marker data.A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome.A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.Epi4K: gene discovery in 4,000 genomes.Defects in the COG complex and COG-related trafficking regulators affect neuronal Golgi function.A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disabilityDisruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia.Genetic variations and associated pathophysiology in the management of epilepsy.Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a modelProgressive myoclonic epilepsies: definitive and still undetermined causes.A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.Systematic review of autosomal recessive ataxias and proposal for a classification.Human diseases associated with form and function of the Golgi complex.The progressive myoclonic epilepsies.The genetics of the epilepsies.Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties.Energetics, kinetics, and pathway of SNARE folding and assembly revealed by optical tweezers.Report of progressive myoclonus ataxia (PMA) in two Chinese pedigrees.Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders.Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia.Genetic and epigenetic mechanisms of epilepsy: a review.The efficacy of the modified Atkins diet in North Sea Progressive Myoclonus Epilepsy: an observational prospective open-label study.Mutations in Membrin/GOSR2 Reveal Stringent Secretory Pathway Demands of Dendritic Growth and Synaptic IntegrityA shared haplotype indicates a founder event in Unverricht-Lundborg disease patients from Serbia.'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation.Conserved Oligomeric Golgi and Neuronal Vesicular Trafficking.Functional assays for the assessment of the pathogenicity of variants of GOSR2, an ER-to-Golgi SNARE involved in progressive myoclonus epilepsies.Epileptic Encephalopathies as Neurodegenerative Disorders.Clinical and neurophysiologic features of progressive myoclonus epilepsy without renal failure caused by SCARB2 mutations.Identification of COL6A2 mutations in progressive myoclonus epilepsy syndrome.Epilepsy with cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH.Ramsay Hunt syndrome: clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation.TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy.The role of the cerebellum in the pathogenesis of cortical myoclonus
P2860
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P2860
A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia.
description
2011 nî lūn-bûn
@nan
2011 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
A mutation in the Golgi Qb-SNA ...... us epilepsy with early ataxia.
@ast
A mutation in the Golgi Qb-SNA ...... us epilepsy with early ataxia.
@en
type
label
A mutation in the Golgi Qb-SNA ...... us epilepsy with early ataxia.
@ast
A mutation in the Golgi Qb-SNA ...... us epilepsy with early ataxia.
@en
prefLabel
A mutation in the Golgi Qb-SNA ...... us epilepsy with early ataxia.
@ast
A mutation in the Golgi Qb-SNA ...... us epilepsy with early ataxia.
@en
P2093
P2860
P50
P1476
A mutation in the Golgi Qb-SNA ...... us epilepsy with early ataxia.
@en
P2093
Alison E Gardner
Annemarie M Vlaar
Danya F Vears
G Christoph Korenke
Irenaeus F de Coo
Judith M A Verhagen
Leanne M Dibbens
Luke C Gandolfo
Mark A Corbett
Marta A Bayly
P2860
P304
P356
10.1016/J.AJHG.2011.04.011
P407
P577
2011-05-05T00:00:00Z