(Q35643594)

English

Spinocerebellar ataxia type 1 and Machado-Joseph disease: incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive, or sporadic ataxia

scientific article published on September 1995

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scholarly article

1 reference

Europe PubMed Central

9 August 2017

Spinocerebellar ataxia type 1 and Machado-Joseph disease: incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive, or sporadic ataxia (English)

1 reference

Europe PubMed Central

9 August 2017

Machado-Joseph disease

1 reference

based on heuristic

inferred from title

spinocerebellar ataxia type 1

1 reference

based on heuristic

inferred from title

author name string

L P Ranum

1

1 reference

Europe PubMed Central

9 August 2017

J K Lundgren

2

1 reference

Europe PubMed Central

9 August 2017

L J Schut

3

1 reference

Europe PubMed Central

9 August 2017

M J Ahrens

4

1 reference

Europe PubMed Central

9 August 2017

S Perlman

5

1 reference

Europe PubMed Central

9 August 2017

J Aita

6

1 reference

Europe PubMed Central

9 August 2017

T D Bird

7

1 reference

Europe PubMed Central

9 August 2017

C Gomez

8

1 reference

Europe PubMed Central

9 August 2017

H T Orr

9

1 reference

Europe PubMed Central

9 August 2017

language of work or name

0 references

publication date

1 September 1995

1 reference

Europe PubMed Central

9 August 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

9 August 2017

57

1 reference

Europe PubMed Central

9 August 2017

603-608

1 reference

Europe PubMed Central

9 August 2017

3

1 reference

Europe PubMed Central

9 August 2017

The gene for Machado-Joseph disease maps to human chromosome 14q

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801263

12 July 2018

Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801263

12 July 2018

Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801263

12 July 2018

Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801263

12 July 2018

Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia I.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801263

12 July 2018

Molecular and clinical correlations in spinocerebellar ataxia type I: evidence for familial effects on the age at onset.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801263

12 July 2018

Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801263

12 July 2018

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801263

12 July 2018

Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801263

12 July 2018

Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801263

12 July 2018

The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. A study of 11 families, including descendants of the 'the Drew family of Walworth'.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801263

12 July 2018

The natural history of Machado-Joseph disease. An analysis of 138 personally examined cases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801263

12 July 2018

Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia. A unique and partially treatable clinico-pathological entity.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801263

12 July 2018

Family with dominantly inherited ataxia, amyotrophy, and peripheral sensory loss. Spinopontine atrophy or Machado-Joseph Azorean disease in another non-Portuguese family?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801263

12 July 2018

Autosomal dominant cerebellar ataxia: clinical analysis of 263 patients from a homogeneous population in Holguín, Cuba

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801263

12 July 2018

Autosomal dominant spinocerebellar ataxia: locus heterogeneity in a Nebraska kindred

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801263

12 July 2018

Genetic linkage and spinocerebellar ataxia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801263

12 July 2018

Cranial computerized tomography and Marie's ataxia: a case report

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801263

12 July 2018

Letter: Hereditary ataxia and HL-A genotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801263

25 September 2018

Spinocerebellar ataxia: variable age of onset and linkage to human leukocyte antigen in a large kindred.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801263

25 September 2018

Analysis of the SCAI CAG repeat in a large number of families with dominant ataxia: Clinical and molecular correlations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801263

7 December 2018

The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12–p21.1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1801263

7 December 2018

The trinucleotide repeat expansion on chromosome 6p (SCA1) in autosomal dominant cerebellar ataxias

1 reference

https://pubmed.ncbi.nlm.nih.gov/7668288

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal dominant cerebellar phenotypes: the genotype has settled the issue

1 reference

https://pubmed.ncbi.nlm.nih.gov/7668288

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical, neuropathologic, and genetic studies of a large spinocerebellar ataxia type 1 (SCA1) kindred

1 reference

https://pubmed.ncbi.nlm.nih.gov/7668288

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

9 August 2017

1 reference

Europe PubMed Central

9 August 2017

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