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Spinocerebellar Ataxia Type 7
Known as:
OPCA with Retinal Degeneration
, Spinocerebellar Ataxia 7
, Autosomal Dominant Cerebellar Ataxia, Type II
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A group of dominantly inherited, predominatly late-onset, cerebellar ataxias which have been divided into multiple subtypes based on clinical…
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National Institutes of Health
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Related topics
Related topics
19 relations
ATXN7 gene
ATXN7, (CAG)n EXPANSION
Abnormal pyramidal signs
Abnormality of extrapyramidal motor function
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Broader (1)
Ataxia, Spinocerebellar
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2012
2012
Reelin is a target of polyglutamine expanded ataxin-7 in human spinocerebellar ataxia type 7 (SCA7) astrocytes
S. McCullough
,
Xiaojiang Xu
,
S. Dent
,
S. Bekiranov
,
R. Roeder
,
P. Grant
Proceedings of the National Academy of Sciences…
2012
Corpus ID: 23052385
Spinocerebellar ataxia type 7 (SCA7) is an autosomal-dominant neurodegenerative disorder that results from polyglutamine…
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Review
2006
Review
2006
Transcriptional alterations and chromatin remodeling in polyglutamine diseases.
D. Helmlinger
,
L. Tora
,
D. Devys
Trends in Genetics
2006
Corpus ID: 22426840
2005
2005
A SCA7 CAG/CTG repeat expansion is stable in Drosophila melanogaster despite modulation of genomic context and gene dosage.
S. M. Jackson
,
Alexander J. Whitworth
,
+4 authors
A. L. La Spada
Gene
2005
Corpus ID: 36591629
Review
2005
Review
2005
Histopathologic-Genotypic Correlations in Retinitis Pigmentosa and Allied Diseases
Y. Ben-Arie-Weintrob
,
E. Berson
,
T. Dryja
Ophthalmic Genetics
2005
Corpus ID: 43562951
This paper reviews the published histopathologic findings of patients with retinitis pigmentosa (RP) or an allied disease in whom…
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2004
2004
Large de novo expansion of CAG repeats in patient with sporadic spinocerebellar ataxia type 7
P. Bauer
,
Josef Kraus
,
Vaclav Matoska
,
Martina Brouckova
,
A. Zumrová
,
P. Goetz
Journal of Neurology
2004
Corpus ID: 27747998
Sirs: Spinocerebellar ataxia type 7 (SCA7) is a rare neurodegenerative disorder caused by CAG repeat expansion within the 5…
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2003
2003
A novel central nervous system-enriched spinocerebellar ataxia type 7 gene product.
D. D. Einum
,
A. Clark
,
J. Townsend
,
L. Ptáček
,
Ying-Hui Fu
Archives of Neurology
2003
Corpus ID: 24468602
CONTEXT Polyglutamine-mediated neurodegeneration in spinocerebellar ataxia type 7 (SCA7) involves specific central nervous system…
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Review
2003
Review
2003
Insights into the molecular basis of polyglutamine neurodegeneration from studies of a spinocerebellar ataxia type 7 mouse model
S. K. Grote
,
A. L. La Spada
Cytogenetic and Genome Research
2003
Corpus ID: 37768702
Spinocerebellar ataxia type 7 (SCA7) is one member of a growing list of neurodegenerative disorders that are all caused by CAG…
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2001
2001
Ataxin-7 expression analysis in controls and spinocerebellar ataxia type 7 patients
D. D. Einum
,
J. Townsend
,
L. Ptáček
,
Ying-Hui Fu
Neurogenetics
2001
Corpus ID: 23480759
Abstract Expansion of polymorphic CAG repeats encoding polyglutamine cause at least eight inherited neurodegenerative diseases…
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Review
2000
Review
2000
The molecular biology of the autosomal‐dominant cerebellar ataxias
T. Klockgether
,
U. Wüllner
,
A. Spauschus
,
B. Evert
Movement Disorders
2000
Corpus ID: 30083503
Autosomal‐dominant cerebellar ataxias (ADCA) may present as progressive or paroxysmal disorders. While the progressive ataxias…
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Review
1998
Review
1998
Genes involved in hereditary ataxias
T. Klockgether
,
B. Evert
Trends in Neurosciences
1998
Corpus ID: 12490107
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