(Q48964202)

English

X-linked neurodegenerative syndrome with congenital ataxia, late-onset progressive myoclonic encephalopathy and selective macular degeneration, linked to Xp22.33-pter.

scientific article published in July 1996

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

17 February 2018

http://europepmc.org/abstract/MED/8826451

X-linked neurodegenerative syndrome with congenital ataxia, late-onset progressive myoclonic encephalopathy and selective macular degeneration, linked to Xp22.33-pter. (English)

1 reference

Europe PubMed Central

PubMed publication ID

17 February 2018

http://europepmc.org/abstract/MED/8826451

neurodegeneration

1 reference

based on heuristic

inferred from title

macular degeneration

1 reference

based on heuristic

inferred from title

Pierre Billuart

5

1 reference

Europe PubMed Central

PubMed publication ID

17 February 2018

http://europepmc.org/abstract/MED/8826451

author name string

des Portes V

1

1 reference

Europe PubMed Central

PubMed publication ID

17 February 2018

http://europepmc.org/abstract/MED/8826451

Bachner L

2

1 reference

Europe PubMed Central

PubMed publication ID

17 February 2018

http://europepmc.org/abstract/MED/8826451

Brüls T

3

1 reference

Europe PubMed Central

PubMed publication ID

17 February 2018

http://europepmc.org/abstract/MED/8826451

Beldjord C

4

1 reference

Europe PubMed Central

PubMed publication ID

17 February 2018

http://europepmc.org/abstract/MED/8826451

Soufir N

6

1 reference

Europe PubMed Central

PubMed publication ID

17 February 2018

http://europepmc.org/abstract/MED/8826451

Bienvenu T

7

1 reference

Europe PubMed Central

PubMed publication ID

17 February 2018

http://europepmc.org/abstract/MED/8826451

Vinet MC

8

1 reference

Europe PubMed Central

PubMed publication ID

17 February 2018

http://europepmc.org/abstract/MED/8826451

Malaspina E

9

1 reference

Europe PubMed Central

PubMed publication ID

17 February 2018

http://europepmc.org/abstract/MED/8826451

Marchiani V

10

1 reference

Europe PubMed Central

PubMed publication ID

17 February 2018

http://europepmc.org/abstract/MED/8826451

Bertini E

11

1 reference

Europe PubMed Central

PubMed publication ID

17 February 2018

http://europepmc.org/abstract/MED/8826451

Kahn A

12

1 reference

Europe PubMed Central

PubMed publication ID

17 February 2018

http://europepmc.org/abstract/MED/8826451

Franzoni E

13

1 reference

Europe PubMed Central

PubMed publication ID

17 February 2018

http://europepmc.org/abstract/MED/8826451

Chelly J

14

1 reference

Europe PubMed Central

PubMed publication ID

17 February 2018

http://europepmc.org/abstract/MED/8826451

publication date

1 July 1996

1 reference

Europe PubMed Central

PubMed publication ID

17 February 2018

http://europepmc.org/abstract/MED/8826451

American Journal of Medical Genetics Part A

1 reference

Europe PubMed Central

PubMed publication ID

17 February 2018

http://europepmc.org/abstract/MED/8826451

64

1 reference

Europe PubMed Central

PubMed publication ID

17 February 2018

http://europepmc.org/abstract/MED/8826451

1

1 reference

Europe PubMed Central

PubMed publication ID

17 February 2018

http://europepmc.org/abstract/MED/8826451

69-72

1 reference

Europe PubMed Central

PubMed publication ID

17 February 2018

http://europepmc.org/abstract/MED/8826451

Congenital X-linked ataxia, progressive myoclonic encephalopathy, macular degeneration and recurrent infections

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960712%2964%3A1%3C69%3A%3AAID-AJMG10%3E3.0.CO%3B2-Q

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960712%2964%3A1%3C69%3A%3AAID-AJMG10%3E3.0.CO%3B2-Q

21 January 2018

The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960712%2964%3A1%3C69%3A%3AAID-AJMG10%3E3.0.CO%3B2-Q

21 January 2018

A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960712%2964%3A1%3C69%3A%3AAID-AJMG10%3E3.0.CO%3B2-Q

21 January 2018

The 1993-94 Généthon human genetic linkage map

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960712%2964%3A1%3C69%3A%3AAID-AJMG10%3E3.0.CO%3B2-Q

21 January 2018

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960712%2964%3A1%3C69%3A%3AAID-AJMG10%3E3.0.CO%3B2-Q

21 January 2018

A mutation in the DNA-binding domain of the androgen receptor gene causes complete testicular feminization in a patient with receptor-positive androgen resistance

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960712%2964%3A1%3C69%3A%3AAID-AJMG10%3E3.0.CO%3B2-Q

21 January 2018

A high resolution deletion map of human chromosome Xp22.

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960712%2964%3A1%3C69%3A%3AAID-AJMG10%3E3.0.CO%3B2-Q

21 January 2018

XLMR genes: update 1994

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960712%2964%3A1%3C69%3A%3AAID-AJMG10%3E3.0.CO%3B2-Q

21 January 2018

Identifiers

10.1002/(SICI)1096-8628(19960712)64:1<69::AID-AJMG10>3.0.CO;2-Q

1 reference

Europe PubMed Central

PubMed publication ID

17 February 2018

http://europepmc.org/abstract/MED/8826451

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

17 February 2018

http://europepmc.org/abstract/MED/8826451

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