The clinical and genetic spectrum of spinocerebellar ataxia 14
about
Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics'Medusa head ataxia': the expanding spectrum of Purkinje cell antibodies in autoimmune cerebellar ataxia. Part 2: Anti-PKC-gamma, anti-GluR-delta2, anti-Ca/ARHGAP26 and anti-VGCCEffect of trehalose on the properties of mutant {gamma}PKC, which causes spinocerebellar ataxia type 14, in neuronal cell lines and cultured Purkinje cells.CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 geneIdentification of a new family of spinocerebellar ataxia type 14 in the Japanese spinocerebellar ataxia population by the screening of PRKCG exon 4.Loss of Purkinje cells in the PKCgamma H101Y transgenic mouseEstablishment of a novel fluorescence-based method to evaluate chaperone-mediated autophagy in a single neuron.Brain pathology of spinocerebellar ataxias.Cognition is only minimally impaired in Spinocerebellar ataxia type 14 (SCA14): a neuropsychological study of ten Norwegian subjects compared to intrafamilial controls and population norm.Spinocerebellar ataxia 17 (SCA17) and Huntington's disease-like 4 (HDL4).Protein kinase C gamma mutations in the C1B domain cause caspase-3-linked apoptosis in lens epithelial cells through gap junctions.Protection from ataxia-linked apoptosis by gap junction inhibitorsMitochondrial pathology in progressive cerebellar ataxiaOn autosomal dominant cerebellar ataxia (ADCA) other than polyglutamine diseases, with special reference to chromosome 16q22.1-linked ADCA.Geriatric neurogenetics: oxymoron or reality?Deregulation of the actin cytoskeleton and macropinocytosis in response to phorbol ester by the mutant protein kinase C gamma that causes spinocerebellar ataxia type 14.Calcium signaling, PKC gamma, IP3R1 and CAR8 link spinocerebellar ataxias and Purkinje cell dendritic development.Mutant protein kinase C gamma that causes spinocerebellar ataxia type 14 (SCA14) is selectively degraded by autophagy.A novel H101Q mutation causes PKCgamma loss in spinocerebellar ataxia type 14.Molecular pathophysiology of neurodegenerative disease caused by γPKC mutations.A de novo SCA14 mutation in an isolated case of late-onset cerebellar ataxia.Aggregate formation of mutant protein kinase C gamma found in spinocerebellar ataxia type 14 impairs ubiquitin-proteasome system and induces endoplasmic reticulum stress.Cerebellar neurochemical alterations in spinocerebellar ataxia type 14 appear to include glutathione deficiency.A Japanese case of SCA14 with the Gly128Asp mutation.SCA14 in Norway, two families with autosomal dominant cerebellar ataxia and a novel mutation in the PRKCG gene.New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14.APC rearrangements in familial adenomatous polyposis: heterogeneity of deletion lengths and breakpoint sequences underlies similar phenotypes.Roles of Post-translational Modifications in Spinocerebellar Ataxias
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The clinical and genetic spectrum of spinocerebellar ataxia 14
description
im April 2005 veröffentlichter wissenschaftlicher Artikel
@de
scientific article published on 01 April 2005
@en
wetenschappelijk artikel
@nl
наукова стаття, опублікована у квітні 2005
@uk
name
The clinical and genetic spectrum of spinocerebellar ataxia 14
@en
The clinical and genetic spectrum of spinocerebellar ataxia 14
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type
label
The clinical and genetic spectrum of spinocerebellar ataxia 14
@en
The clinical and genetic spectrum of spinocerebellar ataxia 14
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prefLabel
The clinical and genetic spectrum of spinocerebellar ataxia 14
@en
The clinical and genetic spectrum of spinocerebellar ataxia 14
@nl
P2093
P1433
P1476
The clinical and genetic spectrum of spinocerebellar ataxia 14
@en
P2093
Fernandez M
Margolis RL
Matsushita M
P304
P356
10.1212/01.WNL.0000156801.64549.6B
P407
P577
2005-04-01T00:00:00Z