(Q30495377)

4 November 2017

Machado Joseph disease maps to the same region of chromosome 14 as the spinocerebellar ataxia type 3 locus (English)

1 reference

4 November 2017

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spinocerebellar ataxia

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9

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4 November 2017

10

Rouleau GA

1 reference

4 November 2017

Twist EC

1

1 reference

4 November 2017

Casaubon LK

2

1 reference

4 November 2017

Ruttledge MH

3

1 reference

4 November 2017

Rao VS

4

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4 November 2017

Macleod PM

5

1 reference

4 November 2017

Radvany J

6

1 reference

4 November 2017

Zhao Z

7

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4 November 2017

Rosenberg RN

8

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4 November 2017

language of work or name

English

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publication date

1 January 1995

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Journal of Medical Genetics

4 November 2017

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4 November 2017

32

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4 November 2017

1

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4 November 2017

25-31

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Clinical features and classification of inherited ataxias.

4 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050174

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050174

A third locus for autosomal dominant cerebellar ataxia type I maps to chromosome 14q24.3-qter: evidence for the existence of a fourth locus

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050174

Machado-Joseph disease of Azorean ancestry in Brazil: the Catarina kindred. Neurological, neuroimaging, psychiatric and neuropsychological findings in the largest known family, the "Catarina" kindred

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050174

Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050174

Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050174

Machado Joseph disease is not an allele of the spinocerebellar ataxia 2 locus

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050174

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050174

The 1993-94 Généthon human genetic linkage map

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050174

Joseph disease: a multisystem degenerative disorder of the nervous system

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050174

Effect of selenium deficiency on cuticle integrity in the Cladocera (Crustacea).

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050174

Machado-Joseph disease in an American-Italian family

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050174

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050174

Machado disease: A hereditary ataxia in Portuguese emigrants to Massachusetts

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050174

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050174

Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050174

An algorithm to improve the computational efficiency of genetic linkage analysis.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050174

Machado-Joseph disease in a Sicilian-American family.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050174

Mapping the Wilson disease locus to a cluster of linked polymorphic markers on chromosome 13.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050174

A new family with Joseph disease in Japan. Homovanillic acid, magnetic resonance, and sleep apnea studies.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050174

Eight families with Joseph's disease in India

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050174

Autosomal dominant striatonigral degeneration. A clinical, pathologic, and biochemical study of a new genetic disorder

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050174

Association between hepatitis B virus and essential mixed cryoglobulinemia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050174

Joseph's disease: an autosomal dominant neurological disease in the Portuguese of the United States and the Azores Islands.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050174

Autosomal dominant motor system degeneration in a black family

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050174

Letter: Hereditary ataxia and HL-A genotypes

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050174

Joseph's disease: clinical and pathological studies in a Japanese family

26 November 2018

1 reference

12 December 2020

Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22

1 reference

12 December 2020

The Machado-Joseph disease locus is different from the spinocerebellar ataxia locus (SCA1)

1 reference

12 December 2020

A dominant hereditary ataxia resembling Machado-Joseph disease in Arnhem Land, Australia

1 reference

12 December 2020

A simple scheme for the analysis of HLA linkages in pedigrees

1 reference

12 December 2020

[Clinical, genetic and pathological aspects of Machado-Joseph disease]

1 reference

12 December 2020

Machado-Joseph-Azorean disease in India

1 reference

12 December 2020

Machado-Joseph disease: linkage analysis between the loci for the disease and 18 protein markers

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.32.1.25

1 reference

4 November 2017

1 reference

4 November 2017

PubMed publication ID

7897622

1 reference