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SPTBN2 wt Allele
Known as:
SCA5
, GTRAP41
, Spectrin, Beta, Non-Erythrocytic 2 wt Allele
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Human SPTBN2 wild-type allele is located in the vicinity of 11q13.2 and is approximately 44 kb in length. This allele, which encodes spectrin beta…
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National Institutes of Health
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Related topics
Related topics
4 relations
Cell Movement
Cytokinesis
Muscle Contraction
Regulation of Cell Shape
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Review
2019
Review
2019
Spinocerebellar ataxia
T. Klockgether
,
C. Mariotti
,
H. Paulson
Nature Reviews Disease Primers
2019
Corpus ID: 108293017
The spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of autosomal dominantly inherited progressive disorders…
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Highly Cited
2010
Highly Cited
2010
Targeted deletion of βIII spectrin impairs synaptogenesis and generates ataxic and seizure phenotypes
M. Stankewich
,
B. Gwynn
,
+6 authors
J. Morrow
Proceedings of the National Academy of Sciences
2010
Corpus ID: 2006825
The spectrin membrane skeleton controls the disposition of selected membrane channels, receptors, and transporters. In the brain…
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2010
2010
Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds
P. Bauer
,
G. Stevanin
,
+11 authors
A. Brice
Journal of Neurology Neurosurgery & Psychiatry
2010
Corpus ID: 28761214
Background At least 28 loci have been linked to autosomal dominant spinocerebellar ataxia (ADCA). Causative genes have been…
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Highly Cited
2008
Highly Cited
2008
Abnormal expression of glutamate transporter and transporter interacting molecules in prefrontal cortex in elderly patients with schizophrenia
D. Bauer
,
D. Gupta
,
V. Harotunian
,
J. Meador-Woodruff
,
R. Mccullumsmith
Schizophrenia Research
2008
Corpus ID: 21921297
Highly Cited
2006
Highly Cited
2006
Expression of excitatory amino acid transporter interacting protein transcripts in the thalamus in schizophrenia
Ibone Huerta
,
R. Mccullumsmith
,
V. Haroutunian
,
J. Giménez-Amaya
,
J. Meador-Woodruff
Synapse
2006
Corpus ID: 6698308
The excitatory amino acid transporters (EAATs) are a family of plasma membrane proteins that maintain synaptic glutamate…
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Highly Cited
2005
Highly Cited
2005
Clinical feature profile of spinocerebellar ataxia type 1–8 predicts genetically defined subtypes
M. Maschke
,
G. Oehlert
,
+5 authors
C. Gomez
Movement Disorders
2005
Corpus ID: 10528692
An increasing number of genetically defined types of spinocerebellar ataxia (SCA) have been reported in the past decade…
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Review
2004
Review
2004
Spinocerebellar ataxia type 5
K. Bürk
,
C. Zühlke
,
+5 authors
Y. Hellenbroich
Neurology
2004
Corpus ID: 29978055
The authors report a German family with autosomal dominant cerebellar ataxia tightly linked to the spinocerebellar ataxia type 5…
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Highly Cited
2001
Highly Cited
2001
Clinical features and genetic analysis of a new form of spinocerebellar ataxia
D. Devos
,
S. Schraen-Maschke
,
+5 authors
B. Sablonnière
Neurology
2001
Corpus ID: 7338081
Background: The autosomal dominant cerebellar ataxias (ADCA) are a clinically heterogeneous group of disorders. The mutations for…
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Highly Cited
1999
Highly Cited
1999
Clinical and MRI findings in spinocerebellar ataxia type 5
G. Stevanin
,
A. Herman
,
A. Brice
,
A. Dürr
Neurology
1999
Corpus ID: 46314839
Article abstract Spinocerebellar ataxia type 5 (SCA5), one of the genetically heterogeneous autosomal dominant cerebellar ataxias…
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Highly Cited
1998
Highly Cited
1998
Clinical and genetic analysis of a distinct autosomal dominant spinocerebellar ataxia
R. Grewal
,
E. Tayag
,
+4 authors
S. Pulst
Neurology
1998
Corpus ID: 31738977
Objective: To characterize a distinct form of spinocerebellar ataxia (SCA) clinically and genetically. Background: The SCAs are a…
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