Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p
about
Dominant intermediate Charcot-Marie-Tooth neuropathy maps to chromosome 19p12-p13.2.Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2Identification of a locus for autosomal dominant polycystic liver disease, on chromosome 19p13.2-13.1Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia.The cerebellum and migraineSearch for intracranial aneurysm susceptibility gene(s) using Finnish familiesGenetic neurological channelopathies: molecular genetics and clinical phenotypes.The Physiology, Pathology, and Pharmacology of Voltage-Gated Calcium Channels and Their Future Therapeutic PotentialMigraine headache: a review of the molecular genetics of a common disorderA mutation in the low voltage-gated calcium channel CACNA1G alters the physiological properties of the channel, causing spinocerebellar ataxiaCAG repeat instability, cryptic sequence variation and pathogeneticity: evidence from different loci.Sensorimotor adaptation as a behavioural biomarker of early spinocerebellar ataxia type 6The carboxy-terminal fragment of alpha(1A) calcium channel preferentially aggregates in the cytoplasm of human spinocerebellar ataxia type 6 Purkinje cells.Neurological channelopathies: diagnosis and therapy in the new millennium.Unraveling monogenic channelopathies and their implications for complex polygenic diseaseParoxysmal dyskinesias in miceMolecular genetics of migraine headaches: a review.The molecular biology of the autosomal-dominant cerebellar ataxias.Channelopathies: ion channel defects linked to heritable clinical disorders.Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics.The inherited episodic ataxias: how well do we understand the disease mechanisms?Molecular and clinical study of 18 families with ADCA type II: evidence for genetic heterogeneity and de novo mutationThe neuronal channelopathies.Genetics of migraine: possible links to neurophysiological abnormalities.Molecular mechanism of Spinocerebellar Ataxia type 6: glutamine repeat disorder, channelopathy and transcriptional dysregulation. The multifaceted aspects of a single mutation.The Repeat Expansion Diseases: The dark side of DNA repair.Sacred disease secrets revealed: the genetics of human epilepsy.Next-generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2Episodic ataxia type 2.Recent advances in RNA interference therapeutics for CNS diseases.Spinocerebellar ataxia type 6 in eastern India: Some new observations.A susceptibility locus for migraine with aura, on chromosome 4q24.Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias.Neuronal P/Q-type calcium channel dysfunction in inherited disorders of the CNS.Episodic ataxia type 2: phenotype characteristics of a novel CACNA1A mutation and review of the literature.Calcium signaling and epilepsy.Critical evaluation of in silico methods for prediction of coiled-coil domains in proteins.Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing.Identification of the REST regulon reveals extensive transposable element-mediated binding site duplicationThe Role of Calcium Channels in Epilepsy.
P2860
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P2860
Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p
description
1997 nî lūn-bûn
@nan
1997 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Episodic ataxia type 2 (EA2) a ...... CACNA1A gene on chromosome 19p
@ast
Episodic ataxia type 2 (EA2) a ...... CACNA1A gene on chromosome 19p
@en
Episodic ataxia type 2 (EA2) a ...... CACNA1A gene on chromosome 19p
@nl
type
label
Episodic ataxia type 2 (EA2) a ...... CACNA1A gene on chromosome 19p
@ast
Episodic ataxia type 2 (EA2) a ...... CACNA1A gene on chromosome 19p
@en
Episodic ataxia type 2 (EA2) a ...... CACNA1A gene on chromosome 19p
@nl
prefLabel
Episodic ataxia type 2 (EA2) a ...... CACNA1A gene on chromosome 19p
@ast
Episodic ataxia type 2 (EA2) a ...... CACNA1A gene on chromosome 19p
@en
Episodic ataxia type 2 (EA2) a ...... CACNA1A gene on chromosome 19p
@nl
P2093
P2860
P50
P3181
P356
P1476
Episodic ataxia type 2 (EA2) a ...... CACNA1A gene on chromosome 19p
@en
P2093
F Pierelli
G Sabbadini
L Calandriello
M Frontali
R A Ophoff
R R Frants
P2860
P304
P3181
P356
10.1093/HMG/6.11.1973
P407
P577
1997-10-01T00:00:00Z