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[Autosomal recessive cerebellar ataxias with oculomotor apraxia]
scientific article published on 01 February 2006
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scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
16518257
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16518257%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
review article
1 reference
stated in
Europe PubMed Central
title
[Autosomal recessive cerebellar ataxias with oculomotor apraxia]
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
16518257
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16518257%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
main subject
apraxia
1 reference
based on heuristic
inferred from title
author name string
I Le Ber
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
16518257
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16518257%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
S Rivaud-Péchoux
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
16518257
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16518257%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
A Brice
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
16518257
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16518257%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
A Dürr
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
16518257
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16518257%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
publication date
1 February 2006
1 reference
stated in
Europe PubMed Central
PubMed publication ID
16518257
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16518257%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
published in
Revue neurologique
1 reference
stated in
Europe PubMed Central
PubMed publication ID
16518257
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16518257%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
volume
162
1 reference
stated in
Europe PubMed Central
PubMed publication ID
16518257
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16518257%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
issue
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
16518257
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16518257%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
page(s)
177-184
1 reference
stated in
Europe PubMed Central
PubMed publication ID
16518257
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16518257%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
cites work
Ataxia-ocular motor apraxia: a syndrome mimicking ataxia-telangiectasia
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0035-3787%2806%2974997-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Aprataxin gene mutations in Tunisian families
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0035-3787%2806%2974997-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Recessive ataxia with ocular apraxia: review of 22 Portuguese patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0035-3787%2806%2974997-9
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%2FS0035-3787%2806%2974997-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
ATM mutations on distinct SNP and STR haplotypes in ataxia-telangiectasia patients of differing ethnicities reveal ancestral founder effects
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0035-3787%2806%2974997-9
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
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0035-3787%2806%2974997-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0035-3787%2806%2974997-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Ataxia-telangiectasia, an evolving phenotype
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0035-3787%2806%2974997-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A type of congenital ocular motor apraxia presenting jerky head movements
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0035-3787%2806%2974997-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Ataxia with oculomotor apraxia type 1 in Southern Italy: late onset and variable phenotype
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0035-3787%2806%2974997-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0035-3787%2806%2974997-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0035-3787%2806%2974997-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Clinical and genetic abnormalities in patients with Friedreich's ataxia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0035-3787%2806%2974997-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0035-3787%2806%2974997-9
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%2FS0035-3787%2806%2974997-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0035-3787%2806%2974997-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Hereditary motor and sensory neuropathy associated with cerebellar atrophy (HMSNCA): a new disease.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0035-3787%2806%2974997-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Ataxia without telangiectasia masquerading as benign hereditary chorea
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0035-3787%2806%2974997-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Ataxia without telangiectasia revisited: Update on genetic findings in two brothers with an ataxia-telangiectasia-like disorder
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0035-3787%2806%2974997-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0035-3787%2806%2974997-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0035-3787%2806%2974997-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Ocular motor abnormalities in ataxia telangiectasia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0035-3787%2806%2974997-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0035-3787%2806%2974997-9
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%2FS0035-3787%2806%2974997-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0035-3787%2806%2974997-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The novel human gene aprataxin is directly involved in DNA single-strand-break repair.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0035-3787%2806%2974997-9
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%2FS0035-3787%2806%2974997-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Friedreich ataxia: a paradigm for mitochondrial diseases
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0035-3787%2806%2974997-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
hMRE11: genomic structure and a null mutation identified in a transcript protected from nonsense-mediated mRNA decay
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0035-3787%2806%2974997-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A late onset variant of ataxia-telangiectasia with a compound heterozygous genotype, A8030G/7481insA.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0035-3787%2806%2974997-9
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%2FS0035-3787%2806%2974997-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Hereditary motor and sensory neuropathy associated with cerebellar atrophy (HMSNCA): clinical and neuropathological features of a Japanese family.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0035-3787%2806%2974997-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Severe generalized dystonia as a presentation of a patient with aprataxin gene mutation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0035-3787%2806%2974997-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0035-3787%2806%2974997-9
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%2FS0035-3787%2806%2974997-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Residual ataxia telangiectasia mutated protein function in cells from ataxia telangiectasia patients, with 5762ins137 and 7271T-->G mutations, showing a less severe phenotype.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0035-3787%2806%2974997-9
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%2FS0035-3787%2806%2974997-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Hereditary cerebellar ataxia with peripheral neuropathy and mental retardation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0035-3787%2806%2974997-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Ataxia-telangiectasia-like disorder (ATLD)-its clinical presentation and molecular basis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0035-3787%2806%2974997-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Ataxia-telangiectasia: the pattern of cerebellar atrophy on MRI
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0035-3787%2806%2974997-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Phenotypic variability of aprataxin gene mutations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0035-3787%2806%2974997-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Familial spinocerebellar ataxia with cerebellar atrophy, peripheral neuropathy, and elevated level of serum creatine kinase, gamma-globulin, and alpha-fetoprotein
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0035-3787%2806%2974997-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Congenital ocular motor apraxia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0035-3787%2806%2974997-9
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1016/S0035-3787(06)74997-9
1 reference
stated in
Europe PubMed Central
PubMed publication ID
16518257
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16518257%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
PubMed publication ID
16518257
1 reference
stated in
Europe PubMed Central
PubMed publication ID
16518257
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16518257%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
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