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ATXN2 wt Allele
Known as:
Trinucleotide Repeat-Containing Gene 13
, ASL13
, Ataxin 2 wt Allele
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Human ATXN2 wild-type allele is located in the vicinity of 12q24.1 and is approximately 147 kb in length. This allele, which encodes ataxin-2 protein…
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National Institutes of Health
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Related topics
Related topics
7 relations
12q24.1
Homo sapiens
Intracellular Transport
Ligand Binding
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2012
2012
Association between Proton Magnetic Resonance Spectroscopy Measurements and CAG Repeat Number in Patients with Spinocerebellar Ataxias 2, 3, or 6
Po-Shan Wang
,
Hung-Chieh Chen
,
Hsiu-Mei Wu
,
J. Lirng
,
Yu-Te Wu
,
B. Soong
PLoS ONE
2012
Corpus ID: 12919262
The aim of this study was to correlate magnetic resonance spectroscopy (MRS) measurements, including that for the N-acetyl…
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2009
2009
Prevalence of Spinocerebellar Degenerations in the Hokuriku District in Japan
Ayumi Shibata-Hamaguchi
,
C. Ishida
,
K. Iwasa
,
M. Yamada
Neuroepidemiology
2009
Corpus ID: 20277431
Background: The prevalence of disease subtypes of spinocerebellar degenerations (SCDs) varies between countries, and even between…
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2009
2009
Frequencies of spinocerebellar ataxia subtypes in Thailand: window to the population history?
T. Sura
,
J. Eu-ahsunthornwattana
,
+7 authors
S. Tunlayadechanont
Journal of Human Genetics
2009
Corpus ID: 22440252
Spinocerebellar ataxias (SCAs) are a heterogeneous group of disorders with almost 30 subtypes. The prevalence and relative…
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2009
2009
Masseter reflex in the study of spinocerebellar ataxia type 2 and type 3
Antonio G. García
,
S. Alvarez
,
J. Infante
,
J. Berciano
Muscle and Nerve
2009
Corpus ID: 8498059
In this investigation we assess the utility of the masseter reflex for diagnostic purposes in autosomal dominant cerebellar…
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2005
2005
Frequency analysis of autosomal dominant spinocerebellar ataxias in mainland Chinese patients and clinical and molecular characterization of spinocerebellar ataxia type 6.
Hong Jiang
,
B. Tang
,
+5 authors
K. Xia
Chinese Medical Journal
2005
Corpus ID: 30249907
BACKGROUND Dominantly inherited spinocerebellar ataxia (SCA) is a clinically and genetically heterogeneous group of…
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2004
2004
[Effects of a physical training program on quantitative neurological indices in mild stage type 2 spinocerebelar ataxia patients].
I. Pérez-Ávila
,
J. A. Fernandez-Vieitez
,
E. Martínez-Góngora
,
R. Ochoa-Mastrapa
,
M. Velázquez-Manresa
Revista de neurología (Ed. impresa)
2004
Corpus ID: 24892735
INTRODUCTION Type 2 spinocerebelar ataxia (SCA2) is a neurodegenerative disease with higher prevalence and incidence in Holguín…
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Highly Cited
2003
Highly Cited
2003
Modulation of age at onset in Huntington's disease and spinocerebellar ataxia type 2 patients originated from eastern India
B. Chattopadhyay
,
Subho Ghosh
,
+9 authors
N. Bhattacharyya
Neuroscience Letters
2003
Corpus ID: 33727221
2002
2002
Accurate determination of ataxin-2 polyglutamine expansion in patients with intermediate-range repeats.
J. Hussey
,
P. Lockhart
,
+5 authors
M. Farrer
Genetic Testing
2002
Corpus ID: 33502353
Spinocerebellar ataxia, type 2 (SCA2), results from an expansion of a stretch of polyglutamine repeats within the coding sequence…
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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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1997
1997
Expanded CAG repeats in spinocerebellar ataxia (SCA1) segregate with distinct haplotypes in South African families
R. Ramesar
,
S. Bardien
,
P. Beighton
,
A. Bryer
Human Genetics
1997
Corpus ID: 1600723
Abstract The autosomal dominant late onset spinocerebellar ataxias (SCAs) are genetically heterogeneous. Three genes, SCA1 on 6p…
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