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Paediatric and adult ataxias (update)
scientific article published on 01 January 2003
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Europe PubMed Central
PubMed publication ID
14511629
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14511629%20AND%20SRC:MED&resulttype=core&format=json
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19 December 2019
title
Paediatric and adult ataxias (update)
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
14511629
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14511629%20AND%20SRC:MED&resulttype=core&format=json
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19 December 2019
author name string
Patrick J. Morrison
series ordinal
1
1 reference
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Europe PubMed Central
PubMed publication ID
14511629
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A14511629
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14 March 2024
language of work or name
English
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National Center for Biotechnology Information
PubMed publication ID
14511629
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=14511629
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14 March 2024
publication date
1 January 2003
1 reference
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Europe PubMed Central
PubMed publication ID
14511629
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14511629%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 December 2019
full work available at URL
https://api.elsevier.com/content/article/PII:S109037980300103X?httpAccept=text/xml
1 reference
stated in
Crossref
DOI
10.1016/S1090-3798(03)00103-X
reference URL
https://api.crossref.org/works/10.1016/S1090-3798(03)00103-X
retrieved
14 March 2024
https://api.elsevier.com/content/article/PII:S109037980300103X?httpAccept=text/plain
1 reference
stated in
Crossref
DOI
10.1016/S1090-3798(03)00103-X
reference URL
https://api.crossref.org/works/10.1016/S1090-3798(03)00103-X
retrieved
14 March 2024
published in
European Journal of Paediatric Neurology
1 reference
stated in
Europe PubMed Central
PubMed publication ID
14511629
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14511629%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 December 2019
volume
7
1 reference
stated in
Europe PubMed Central
PubMed publication ID
14511629
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14511629%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 December 2019
issue
5
1 reference
stated in
Europe PubMed Central
PubMed publication ID
14511629
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14511629%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 December 2019
page(s)
231-233
1 reference
stated in
Europe PubMed Central
PubMed publication ID
14511629
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14511629%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 December 2019
cites work
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900103-X
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7 January 2021
based on heuristic
inferred from DOI database lookup
Analysis of spinocerebellar ataxia types 1, 2, 3, and 6, dentatorubral-pallidoluysian atrophy, and Friedreich's ataxia genes in spinocerebellar ataxia patients in the UK.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900103-X
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7 January 2021
based on heuristic
inferred from DOI database lookup
A gene on SCA4 locus causes dominantly inherited pure cerebellar ataxia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900103-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900103-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900103-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900103-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12–p21.1
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900103-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900103-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Spinocerebellar ataxia type 7 (SCA7): a neurodegenerative disorder with neuronal intranuclear inclusions
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900103-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900103-X
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7 January 2021
based on heuristic
inferred from DOI database lookup
Mapping of a new autosomal dominant spinocerebellar ataxia to chromosome 22.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900103-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900103-X
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7 January 2021
based on heuristic
inferred from DOI database lookup
Autosomal dominant cerebellar ataxia type III: linkage in a large British family to a 7.6-cM region on chromosome 15q14-21.3.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900103-X
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7 January 2021
based on heuristic
inferred from DOI database lookup
SCA-12: Tremor with cerebellar and cortical atrophy is associated with a CAG repeat expansion
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900103-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900103-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A novel locus for dominant cerebellar ataxia (SCA14) maps to a 10.2-cM interval flanked by D19S206 and D19S605 on chromosome 19q13.4-qter
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900103-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A new autosomal dominant pure cerebellar ataxia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900103-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A novel autosomal dominant spinocerebellar ataxia (SCA16) linked to chromosome 8q22.1-24.1.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900103-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900103-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900103-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of a novel SCA locus ( SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900103-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3-p15.1
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900103-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A novel autosomal dominant spinocerebellar ataxia (SCA22) linked to chromosome 1p21-q23.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900103-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A form of inherited cerebellar ataxia with saccadic intrusions, increased saccadic speed, sensory neuropathy, and myoclonus.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900103-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Clinical features and genetic analysis of a new form of spinocerebellar ataxia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900103-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900103-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900103-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Spastic paraplegia, ataxia, mental retardation (SPAR): a novel genetic disorder.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900103-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Autosomal dominant sensory/motor neuropathy with Ataxia (SMNA): Linkage to chromosome 7q22-q32.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900103-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Posterior column ataxia with retinitis pigmentosa (AXPC1) maps to chromosome 1q31-q32.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900103-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Toward cloning of a novel ataxia gene: refined assignment and physical map of the IOSCA locus (SCA8) on 10q24
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900103-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900103-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Locus heterogeneity in Friedreich ataxia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900103-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900103-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A locus for autosomal dominant hereditary spastic ataxia, SAX1, maps to chromosome 12p13
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900103-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900103-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900103-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33-34, and with hearing impairment and optic atrophy to 6p21-23.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900103-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900103-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900103-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A single ataxia telangiectasia gene with a product similar to PI-3 kinase
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900103-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900103-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900103-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900103-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Familial cerebellar ataxia with muscle coenzyme Q10 deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2803%2900103-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia
series ordinal
3
1 reference
stated in
Crossref
DOI
10.1016/S1090-3798(03)00103-X
reference URL
https://api.crossref.org/works/10.1016/S1090-3798(03)00103-X
retrieved
14 March 2024
Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1
series ordinal
5
1 reference
stated in
Crossref
DOI
10.1016/S1090-3798(03)00103-X
reference URL
https://api.crossref.org/works/10.1016/S1090-3798(03)00103-X
retrieved
14 March 2024
X-linked sideroblastic anaemia with ataxia: another mitochondrial disease?
series ordinal
49
1 reference
stated in
Crossref
DOI
10.1016/S1090-3798(03)00103-X
reference URL
https://api.crossref.org/works/10.1016/S1090-3798(03)00103-X
retrieved
14 March 2024
Identifiers
DOI
10.1016/S1090-3798(03)00103-X
1 reference
stated in
Europe PubMed Central
PubMed publication ID
14511629
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14511629%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 December 2019
PubMed publication ID
14511629
1 reference
stated in
Europe PubMed Central
PubMed publication ID
14511629
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14511629%20AND%20SRC:MED&resulttype=core&format=json
retrieved
19 December 2019
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