(Q51034618)

27 March 2018

title

Spinocerebellar ataxia 3 and Machado-Joseph disease: clinical, molecular, and neuropathological features (English)

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27 March 2018

main subject

Machado-Joseph disease

1 reference

2

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27 March 2018

Hervé Chneiweiss

7

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27 March 2018

Yves Agid

13

object named as

Agid Y

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Dürr A

1

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27 March 2018

Cancel G

3

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27 March 2018

Duyckaerts C

4

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Abbas N

5

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Didierjean O

6

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Benomar A

8

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Lyon-Caen O

9

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Julien J

10

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Serdaru M

11

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Penet C

12

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Brice A

14

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publication date

1 April 1996

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27 March 2018

published in

Annals of Neurology

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volume

39

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issue

4

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27 March 2018

page(s)

490-499

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27 March 2018

Letter: Hereditary ataxia and HL-A genotypes

cites work

1 reference

https://api.crossref.org/works/10.1002%2FANA.410390411

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FANA.410390411

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FANA.410390411

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FANA.410390411

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FANA.410390411

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FANA.410390411

Trinucleotide expansion within the MJD1 gene presents clinically as spinocerebellar ataxia and occurs most frequently in German SCA patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FANA.410390411

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FANA.410390411

Characterisation of the unstable expanded CAG repeat in the MJD1 gene in four Brazilian families of Portuguese descent with Machado-Joseph disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FANA.410390411

Molecular and clinical correlations in spinocerebellar ataxia type 3 and Machado-Joseph disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FANA.410390411

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FANA.410390411

Somatic mosaicism in sperm is associated with intergenerational (CAG)n changes in Huntington disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FANA.410390411

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FANA.410390411

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FANA.410390411

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FANA.410390411

The gene for Machado–Joseph disease maps to the same 3-cM interval as the spinal cerebellar ataxia 3 gene on chromosome 14q

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FANA.410390411

Autosomal dominant cerebellar ataxia type I in Martinique (French West Indies)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FANA.410390411

Molecular features of the CAG repeats and clinical manifestation of Machado--Joseph disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FANA.410390411

Phenotypic variability in autosomal dominant cerebellar ataxia type I is unrelated to genetic heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FANA.410390411

21 January 2018

Identifiers

DOI

10.1002/ANA.410390411

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27 March 2018

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27 March 2018