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Ataxia, Spinocerebellar
Known as:
Dominantly-Inherited Spinocerebellar Ataxias
, Spinocerebellar Ataxias, Dominantly Inherited
, Spinocerebellar Degeneration
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A group of dominantly inherited, predominately 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
49 relations
Narrower (27)
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism
Gemignani syndrome
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
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Ataxin-1
Ataxin-2
Ataxins
CCDC88C gene
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
A NEW FORM OF INHERITED THROMBOCYTOPENIA CAUSED BY LOSS-OF-FUNCTION MUTATIONS IN PTPRJ
C. Marconi
,
C. D. Buduo
,
+17 authors
A. Pecci
2018
Corpus ID: 58602546
1 Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy. 2 Department of Molecular Medicine…
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2008
2008
Erratum: Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11
H. Houlden
,
Janel O. Johnson
,
+10 authors
N. Wood
Nature Genetics
2008
Corpus ID: 32860559
Dong-Chuan Guo, Hariyadarshi Pannu, Van Tran-Fadulu, Christina L Papke, Robert K Yu, Nili Avidan, Scott Bourgeois, Anthony L…
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2003
2003
Direct production of reactive oxygen species from aggregating proteins and peptides implicated in the pathogenesis of neurodegenerative diseases.
B. J. Tabner
,
S. Turnbull
,
O. El‐Agnaf
,
D. Allsop
2003
Corpus ID: 5027805
The deposition of abnormal protein fibrils is a prominent pathological feature of many different ‘protein conformational…
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2002
2002
Spinocerebellar ataxia and the A3243G and A8344G mtDNA mutations
P. Chinnery
,
D. T. Brown
,
K. Archibald
,
A. Curtis
,
D. Turnbull
Journal of Medical Genetics
2002
Corpus ID: 12996431
The majority of pedigrees with autosomal dominant cerebellar ataxia (ADCA) harbour a pathological expansion of a trinucleotide…
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2000
2000
Primary care and haemoglobin disorders: A study of families and professionals
W. Ahmad
,
K. Atkin
2000
Corpus ID: 71249224
In the UK, around 600 people are affected by thalassaemia major and 6-10 000 by sickle-cell disorders. These haemoglobin…
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1999
1999
LES CONSTRUCTIONS À SERPULES ET MICROBIALITES DU SARMATIEN DE MOLDAVIE
Jean Saint Martin
,
Simona Pestrea
1999
Corpus ID: 130996897
Sarmatian deposits of Moldavia, near the Prut river, contain carbonate bodies from several metres to tens of metres in diameter…
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1989
1989
Normal cerebellar glutamate dehydrogenase protein in spinocerebellar degeneration.
R. Rosenberg
,
Carl BANNERt
Journal of Neurology Neurosurgery & Psychiatry
1989
Corpus ID: 1110170
Immunochemical analyses (Western blots) of cerebellar homogenates for glutamate dehydrogenase (GDH) from patients with…
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1983
1983
Familial spinocerebellar ataxia with skin hyperpigmentation.
M. Daras
,
A. Tuchman
,
S. David
Journal of Neurology Neurosurgery & Psychiatry
1983
Corpus ID: 5710235
Previous reports have shown the association between familial spastic paraplegia and hypopigmentation of the skin. A family is…
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1981
1981
Ectrodactyly, cleft lip and palate in two half sibs.
M. Lewis
,
H. Pashayan
Journal of Medical Genetics
1981
Corpus ID: 33952852
Two half sibs with bilateral complete cleft lip and complete cleft of the palate associated with ectrodactyly of the hands and…
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1980
1980
Linkage studies on glyoxalase I (GLO), pepsinogen (PG), spinocerebellar ataxia (SCA1), and HLA.
J. E. Whittington
,
B. Keats
,
J. Jackson
,
R. Currier
,
P. Terasaki
Cytogenetics and Cell Genetics
1980
Corpus ID: 46806996
Pedigree analyses of five families in which a form of spinocerebellar ataxia (SCA1) is present have been used to obtain…
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