Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study (Q33929425)

30 July 2017

0 references

Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study (English)

1 reference

30 July 2017

Machado-Joseph disease

1 reference

8

1 reference

30 July 2017

10

1 reference

30 July 2017

28

0 references

Isabel Silveira

I Silveira

7

0 references

Paula Coutinho

P Coutinho

9

0 references

Iscia Lopes-Cendes

I Lopes-Cendes

2

0 references

Paola Giunti

P Giunti

14

0 references

Martin Lauritzen

M Lauritzen

22

0 references

Giovanni Stevanin

G Stevanin

15

0 references

Guy A. Rouleau

30

G A Rouleau

1 reference

30 July 2017

C Gaspar

1

1 reference

30 July 2017

S Hayes

3

1 reference

30 July 2017

J Goto

4

1 reference

30 July 2017

K Arvidsson

5

1 reference

30 July 2017

A Dias

6

1 reference

30 July 2017

Y X Zhou

11

1 reference

30 July 2017

B W Soong

12

1 reference

30 July 2017

M Watanabe

13

1 reference

30 July 2017

O Riess

16

1 reference

30 July 2017

H Sasaki

17

1 reference

30 July 2017

M Hsieh

18

1 reference

30 July 2017

G A Nicholson

19

1 reference

30 July 2017

E Brunt

20

1 reference

30 July 2017

J J Higgins

21

1 reference

30 July 2017

L Tranebjaerg

23

1 reference

30 July 2017

V Volpini

24

1 reference

30 July 2017

N Wood

25

1 reference

30 July 2017

L Ranum

26

1 reference

30 July 2017

S Tsuji

27

1 reference

30 July 2017

J Sequeiros

29

1 reference

30 July 2017

language of work or name

English

0 references

publication date

20 December 2000

1 reference

American Journal of Human Genetics

30 July 2017

1 reference

30 July 2017

68

1 reference

30 July 2017

2

1 reference

30 July 2017

523-528

1 reference

Machado-Joseph disease gene products carrying different carboxyl termini

30 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235286

A comparison of linkage disequilibrium measures for fine-scale mapping

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235286

Epidemiology and clinical aspects of Machado-Joseph disease.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235286

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235286

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235286

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235286

Machado-Joseph disease mutations as the genetic basis of most spinocerebellar ataxias in Germany

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235286

Machado disease: A hereditary ataxia in Portuguese emigrants to Massachusetts

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235286

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235286

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235286

Autosomal dominant system degeneration in Portuguese families of the Azores Islands. A new genetic disorder involving cerebellar, pyramidal, extrapyramidal and spinal cord motor functions

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235286

Origins of a mutation: population genetics of Machado-Joseph disease in the Azores (Portugal).

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235286

Analysis of SCA1, DRPLA, MJD, SCA2, and SCA6 CAG repeats in 48 Portuguese ataxia families.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235286

Linkage disequilibrium between the spinocerebellar ataxia 3/Machado-Joseph disease mutation and two intragenic polymorphisms, one of which, X359Y, affects the stop codon

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235286

Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235286

Linkage disequilibrium at the Machado-Joseph disease/spinal cerebellar ataxia 3 locus: evidence for a common founder effect in French and Portuguese-Brazilian families as well as a second ancestral Portuguese-Azorean mutation.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1235286

Linkage disequilibrium analysis in Machado-Joseph disease patients of different ethnic origins

29 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11133357

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Study of three intragenic polymorphisms in the Machado-Joseph disease gene (MJD1) in relation to genetic instability of the (CAG)n tract

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11133357

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/318184

1 reference

30 July 2017

1 reference

30 July 2017

1 reference