(Q24534674)

5 July 2017

0 references

Autosomal recessive cerebellar ataxia with oculomotor apraxia (ataxia-telangiectasia-like syndrome) is linked to chromosome 9q34 (English)

1 reference

autosomal recessive cerebellar ataxia

5 July 2017

0 references

0 references

1 reference

Németh AH

1

A H

Németh

1 reference

5 July 2017

Bochukova E

2

E

Bochukova

1 reference

5 July 2017

Dunne E

3

E

Dunne

1 reference

5 July 2017

Huson SM

4

S M

Huson

1 reference

5 July 2017

Elston J

5

J

Elston

1 reference

5 July 2017

Hannan MA

6

M A

Hannan

1 reference

5 July 2017

Jackson M

7

M

Jackson

1 reference

5 July 2017

Chapman CJ

8

C J

Chapman

1 reference

5 July 2017

Taylor AM

9

A M

Taylor

1 reference

5 July 2017

language of work or name

English

0 references

publication date

5 October 2000

1 reference

American Journal of Human Genetics

5 July 2017

1 reference

5 July 2017

67

1 reference

5 July 2017

5

1 reference

5 July 2017

1320-1326

1 reference

A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34.

5 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288574

Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34.

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288574

Ataxia-ocular motor apraxia syndrome: an investigation of cellular radiosensitivity of patients and their families

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288574

A single ataxia telangiectasia gene with a product similar to PI-3 kinase

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288574

A comprehensive genetic map of the human genome based on 5,264 microsatellites

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288574

The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288574

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288574

Ataxia-oculomotor apraxia syndrome

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288574

Ataxia-ocular motor apraxia: a syndrome mimicking ataxia-telangiectasia

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288574

Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288574

Barhl1, a gene belonging to a new subfamily of mammalian homeobox genes, is expressed in migrating neurons of the CNS.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288574

Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288574

Clinical nosologic and genetic aspects of Joubert and related syndromes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288574

Clinical features and revised diagnostic criteria in Joubert syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288574

Molecular analysis of neurotransmitter release

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288574

Joubert's syndrome: new cases and review of clinicopathologic correlation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288574

The mammalian Mre11-Rad50-nbs1 protein complex: integration of functions in the cellular DNA-damage response

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288574

Genotype-phenotype relationships in ataxia-telangiectasia and variants.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288574

Mutations associated with variant phenotypes in ataxia-telangiectasia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288574

A family showing no evidence of linkage between the ataxia telangiectasia gene and chromosome 11q22-23.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288574

Variant forms of ataxia telangiectasia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288574

Ocular and oculomotor signs in Joubert syndrome.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288574

Absence of mutations in ATM , the gene responsible for ataxia telangiectasia in patients with cerebellar ataxia

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11022012

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A 500-kilobase region containing the tuberous sclerosis locus (TSC1) in a 1.7-megabase YAC and cosmid contig

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11022012

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Report and abstracts of the Sixth International Workshop on chromosome 9.

1 reference

Crossref

https://api.crossref.org/works/10.1086%2F321199

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1086/321199

1 reference

release_5fazeooe4jcfbkjtcnxyvp72pe

5 July 2017

0 references

PMCID

1288574

1 reference

5 July 2017

1 reference