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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.
2016
2016
Pearls & Oy-sters: Niemann-Pick disease type C in a 65-year-old patient
Niraj Kumar
,
P. Rizek
,
Yahia Mohammad
,
M. Jog
Neurology
2016
Corpus ID: 43511781
A 65-year-old, right-handed man of Polish ancestry developed insidious onset, gradually progressive gait ataxia at the age of 55…
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2015
2015
Corrigendum: Cross-talking noncoding RNAs contribute to cell-specific neurodegeneration in SCA7
J. Tan
,
Keith W. Vance
,
+16 authors
A. C. Marques
Nature Structural &Molecular Biology
2015
Corpus ID: 22727474
Nat. Struct. Mol. Biol. 21, 955–961 (2014); published online 12 October 2014; corrected after print 18 February 2015 In the…
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2013
2013
Developing gene knockdown-replacement therapies for spinocerebellar ataxia type 7
Helen J. Curtis
2013
Corpus ID: 82403886
For many dominant diseases, conventional treatment options are limited. This makes them attractive candidates for gene therapy…
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2011
2011
Development of a SCA7 patient-derived lymphoblast cell model for testing RNAi knock-down of the disease-causing gene
D. Berkowitz
2011
Corpus ID: 115100191
2008
2008
Spinocerebellar ataxia type 7 presenting as Stargardt's disease
G. Tsivgoulis
,
S. Vassilopoulou
,
K. Rallis
,
N. Markomichelakis
,
K. Spengos
Journal of Neurology
2008
Corpus ID: 37025526
Sirs: Spinocerebellar ataxia type 7 (SCA7) is an autosomal dominant disorder characterised by progressive retinal and cerebellar…
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2006
2006
Spinocerebellar ataxia type 7 (SCA7)
M. Walker
,
D. Farrell
Practical Neurology
2006
Corpus ID: 74213863
In 1937, French physicians described three generations of a family with a particularly aggressive degenerative cerebellar and…
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2006
2006
Consultations in Molecular Diagnostics Large Pathogenic Expansions in the SCA2 and SCA7 Genes Can Be Detected by Fluorescent Repeat-Primed Polymerase Chain Reaction Assay
C. Cagnoli
,
G. Stevanin
,
+10 authors
A. Brusco
2006
Corpus ID: 90583123
Large expansions in the SCA2 and SCA7 genes (>100 CAG repeats) have been associated with juvenile and infantile forms of…
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2005
2005
Clinical characteristics and genetic diagnosis of hereditary spinocerebellar ataxia type 7
Jiang Hong
2005
Corpus ID: 87117239
Objective To study the gene mutation and clinical characteristics of hereditary spinocerebellar ataxia type 7 (SCA7).Methods The…
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2003
2003
A Case of Spinocerebellar Ataxia Type 7 with Torticollis
Jin-Goo Lee
,
Hyun-Sook Kim
,
M. Lee
2003
Corpus ID: 89510167
The spinocerebellar ataxia type 7 is an autosomal dominant neurodegenerative disorder with expansion of unstable CAG…
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1997
1997
Polymorphisms at 13 expressed human sequences containing CAG/CTG repeats and analysis in autosomal dominant cerebellar ataxia (ADCA) patients
M. Pujana
,
M. Gratacós
,
+6 authors
X. Estivill
Human Genetics
1997
Corpus ID: 23632034
Abstract Genetic anticipation – increasing severity and a decrease in the age of onset with successive generations of a pedigree…
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