LE WE PMID CA
Ataxia (spinocerebellar)249Ataxie (spinozerebellaer)

Ataxia (spinocerebellar)

ATXN1

ATXN3

CA8

Genetics (Trinucleotide repeat)

HAP1 Huntingtin associated protein1

Huntingtin

InsP3R

Ion channel (Calcium)

Machado Joseph s disease

opt mouse

Presenilin

Receptor (Inositol trisphosphate)

Spinocerebellar ataxia15

Spinocerebellar ataxia16

Spinocerebellar ataxia2

Spinocerebellar ataxia3

waddles wdl mouse

2005  
1
Genetic and molecular aspects of spinocerebellar ataxias.
[18568057] Neuropsychiatr Dis Treat 1(2): 125-33 (2005)
2009  
2
1999  
3
Progress in pathogenesis studies of spinocerebellar ataxia type 1.
[10434309] Philos Trans R Soc Lond B Biol Sci 354(1386): 1079-81 (1999)
2004  
4
Spinocerebellar ataxia type 17: latest member of polyglutamine disease group highlights unanswered questions.
[14967764] Arch Neurol 61(2): 183-4 (2004)
2001  
5
Genetic testing in spinocerebellar ataxias: defining a clinical role.
[11176956] Arch Neurol 58(2): 191-5 (2001)
2006  
6
Molecular pathogenesis of spinocerebellar ataxias.
[16613893] Brain 129(Pt 6): 1357-70 (2006)
2009  
7
2009  
8
Pathogenic mechanisms of a polyglutamine-mediated neurodegenerative disease, spinocerebellar ataxia type 1.
[18957430] J Biol Chem 284(12): 7425-9 (2009)
2010  
9
2009  
10
Emerging pathogenic pathways in the spinocerebellar ataxias.
[19345087] Curr Opin Genet Dev 19(3): 247-53 (2009)
2004  
11
Spinocerebellar ataxia type 8 in Scotland: genetic and clinical features in seven unrelated cases and a review of published reports.
[14966165] J Neurol Neurosurg Psychiatry 75(3): 459-65 (2004)
2011  
12
Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics.
[21619691] Orphanet J Rare Dis 6(-): 33 (2011)
2011  
13
Machado-Joseph Disease: from first descriptions to new perspectives.
[21635785] Orphanet J Rare Dis 6(-): 35 (2011)
2010  
14
Inositol trisphosphate receptor Ca2+ release channels in neurological diseases.
[20383523] Pflugers Arch 460(2): 481-94 (2010)
2003  
15
Autosomal dominant spinocerebellar ataxias: an Asian perspective.
[14672269] Can J Neurol Sci 30(4): 361-7 (2003)
2010  
16
EMQN Best Practice Guidelines for molecular genetic testing of SCAs.
[20179742] Eur J Hum Genet 18(11): 1173-6 (2010)
2010  
17
Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias.
[20179748] Eur J Hum Genet 18(11): 1188-95 (2010)

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  • Ataxien des Erwachsenenalters
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