Progressive ataxia due to a missense mutation in a calcium-channel gene
about
Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia.Three new familial hemiplegic migraine mutants affect P/Q-type Ca(2+) channel kineticsDe novo mutation in CACNA1A caused acetazolamide-responsive episodic ataxiaSingle tottering mutations responsible for the neuropathic phenotype of the P-type calcium channelCAG repeat instability, cryptic sequence variation and pathogeneticity: evidence from different loci.Mouse models of spike-wave epilepsy.The 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 diseaseMolecular genetics of migraine headaches: a review.The molecular biology of the autosomal-dominant cerebellar ataxias.High germinal instability of the (CTG)n at the SCA8 locus of both expanded and normal allelesComputational analysis of calcium signaling and membrane electrophysiology in cerebellar Purkinje neurons associated with ataxia.Identification and functional characterization of malignant hyperthermia mutation T1354S in the outer pore of the Cavalpha1S-subunit.The neuronal channelopathies.Computational neurobiology is a useful tool in translational neurology: the example of ataxiaEpisodic ataxia type 1: a neuronal potassium channelopathy.Genetic landscape remodelling in spinocerebellar ataxias: the influence of next-generation sequencing.Spinocerebellar ataxia: relationship between phenotype and genotype - a review.Functional consequences of P/Q-type Ca2+ channel Cav2.1 missense mutations associated with episodic ataxia type 2 and progressive ataxia.Familial migraine with vertigo: no mutations found in CACNA1A.Hemiplegic migraine, seizures, progressive spastic paraparesis, mood disorder, and coma in siblings with low systemic serotonin.A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies.Age-dependent gait abnormalities in mice lacking the Rnf170 gene linked to human autosomal-dominant sensory ataxia.New Insights Into the Role of Ca2 Protein Family in Calcium Flux Deregulation in -KO Neurons
P2860
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P2860
Progressive ataxia due to a missense mutation in a calcium-channel gene
description
1997 nî lūn-bûn
@nan
1997 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի նոյեմբերին 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
Progressive ataxia due to a missense mutation in a calcium-channel gene
@ast
Progressive ataxia due to a missense mutation in a calcium-channel gene
@en
Progressive ataxia due to a missense mutation in a calcium-channel gene
@nl
type
label
Progressive ataxia due to a missense mutation in a calcium-channel gene
@ast
Progressive ataxia due to a missense mutation in a calcium-channel gene
@en
Progressive ataxia due to a missense mutation in a calcium-channel gene
@nl
prefLabel
Progressive ataxia due to a missense mutation in a calcium-channel gene
@ast
Progressive ataxia due to a missense mutation in a calcium-channel gene
@en
Progressive ataxia due to a missense mutation in a calcium-channel gene
@nl
P2093
P2860
P356
P1476
Progressive ataxia due to a missense mutation in a calcium-channel gene
@en
P2093
P2860
P304
P356
10.1086/301613
P407
P577
1997-11-01T00:00:00Z