about
The spinocerebellar ataxia-associated gene Tau tubulin kinase 2 controls the initiation of ciliogenesisClinical and neuroimaging features as diagnostic guides in neonatal neurology diseases with cerebellar involvementThe evaluation of swallowing in patients with spinocerebellar ataxia and oropharyngeal dysphagia: A comparison study of videofluoroscopic and sonar dopplerA KCNC3 mutation causes a neurodevelopmental, non-progressive SCA13 subtype associated with dominant negative effects and aberrant EGFR trafficking.Identification of the SCA21 disease gene: remaining challenges and promising opportunitiesAutosomal dominant cerebellar ataxias: a systematic review of clinical features.Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias.Magnetic resonance imaging biomarkers in patients with progressive ataxia: current status and future direction.Using the shared genetics of dystonia and ataxia to unravel their pathogenesis.Prodromal spinocerebellar ataxia type 2: Prospects for early interventions and ethical challenges.Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease).Recessive spinocerebellar ataxia with paroxysmal cough attacks: a report of five cases.Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood.
P2860
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P2860
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
@zh-hant
name
The ever expanding spinocerebellar ataxias. Editorial.
@en
The ever expanding spinocerebellar ataxias. Editorial.
@nl
type
label
The ever expanding spinocerebellar ataxias. Editorial.
@en
The ever expanding spinocerebellar ataxias. Editorial.
@nl
prefLabel
The ever expanding spinocerebellar ataxias. Editorial.
@en
The ever expanding spinocerebellar ataxias. Editorial.
@nl
P2860
P1433
P1476
The ever expanding spinocerebellar ataxias. Editorial
@en
P2093
Antoni Matilla-Dueñas
P2860
P2888
P304
P356
10.1007/S12311-012-0376-4
P577
2012-12-01T00:00:00Z