Spinocerebellar ataxia type 28: a novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis.

Spinocerebellar ataxia type 28: a novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis.

Item
http://www.wikidata.org/entity/Q34820993
Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13)KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patientsMouse brain expression patterns of Spg7, Afg3l1, and Afg3l2 transcripts, encoding for the mitochondrial m-AAA protease.Multifunctional Mitochondrial AAA ProteasesEarly onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation.Defective mitochondrial mRNA maturation is associated with spastic ataxiaSpinocerebellar ataxia type 23: a genetic update.Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias.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.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.Deletion ofAFG3L2associated with spinocerebellar ataxia type 28 in the context of multiple genomic anomalies
P2860

Spinocerebellar ataxia type 28: a novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis.

Item
http://www.wikidata.org/entity/Q34820993
description
2008 nî lūn-bûn
@nan
2008 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Spinocerebellar ataxia type 28 ...... gression and ophthalmoparesis.
@ast
Spinocerebellar ataxia type 28 ...... gression and ophthalmoparesis.
@en
Spinocerebellar ataxia type 28 ...... gression and ophthalmoparesis.
@nl
type
label
Spinocerebellar ataxia type 28 ...... gression and ophthalmoparesis.
@ast
Spinocerebellar ataxia type 28 ...... gression and ophthalmoparesis.
@en
Spinocerebellar ataxia type 28 ...... gression and ophthalmoparesis.
@nl
prefLabel
Spinocerebellar ataxia type 28 ...... gression and ophthalmoparesis.
@ast
Spinocerebellar ataxia type 28 ...... gression and ophthalmoparesis.
@en
Spinocerebellar ataxia type 28 ...... gression and ophthalmoparesis.
@nl
P1433
P1476
P2093
P2888
P304
P31
P356
P433
P478
P50
P577
P6179
P698
P356
P1433
P1476
Spinocerebellar ataxia type 28 ...... ogression and ophthalmoparesis
@en
P2093
P2888
P304
P31
P356
P433
P478
P50
P577
P6179
P698