SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2.
about
Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteasesAutosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristicsCross Talk of Proteostasis and Mitostasis in Cellular Homeodynamics, Ageing, and DiseaseClinical and neuroradiological features of spinocerebellar ataxia 38 (SCA38)Effect of trehalose on the properties of mutant {gamma}PKC, which causes spinocerebellar ataxia type 14, in neuronal cell lines and cultured Purkinje cells.Purkinje neuron Ca2+ influx reduction rescues ataxia in SCA28 modelEarly onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation.Brain pathology of spinocerebellar ataxias.Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways.Spectrum of combined respiratory chain defects.The power of yeast to model diseases of the powerhouse of the cell.Using the shared genetics of dystonia and ataxia to unravel their pathogenesis.Spinocerebellar ataxia 28: a novel AFG3L2 mutation in a German family with young onset, slow progression and saccadic slowingA novel missense mutation in AFG3L2 associated with late onset and slow progression of spinocerebellar ataxia type 28.Hsp70/Hsc70 regulates the effect phosphorylation has on stabilizing ataxin-1.Neurocognitive Characterization of an SCA28 Family Caused by a Novel AFG3L2 Gene Mutation.SCA28: Novel Mutation in the AFG3L2 Proteolytic Domain Causes a Mild Cerebellar Syndrome with Selective Type-1 Muscle Fiber Atrophy.m-AAA proteases, mitochondrial calcium homeostasis and neurodegeneration.Deletion ofAFG3L2associated with spinocerebellar ataxia type 28 in the context of multiple genomic anomalies
P2860
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P2860
SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2.
description
2005 nî lūn-bûn
@nan
2005 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2.
@ast
SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2.
@en
SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2.
@nl
type
label
SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2.
@ast
SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2.
@en
SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2.
@nl
prefLabel
SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2.
@ast
SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2.
@en
SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2.
@nl
P2093
P50
P356
P1433
P1476
SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2.
@en
P2093
Alessandro Brussino
Caterina Mariotti
Chiara Michielotto
Claudia Cagnoli
Marina Grisoli
Nicola Migone
Stefano Di Donato
P304
P356
10.1093/BRAIN/AWH651
P407
P577
2005-10-26T00:00:00Z