ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF (Q22011182)

GOA release 2020-03-11

protein folding

1 reference

GOA release 2020-03-11

11

Eric S. Lander

Eric S.

Lander

1 reference

6 February 2023

7

J P Bouchard

Jean-Pierre

Bouchard

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6 February 2023

8

J Mathieu

Jean

Mathieu

1 reference

6 February 2023

14

A Richter

Andrea

Richter

1 reference

6 February 2023

12

Kenneth Morgan

Kenneth

Morgan

1 reference

6 February 2023

9

Serge B. Melançon

Serge B.

Melançon

1 reference

6 February 2023

Thomas J. Hudson

13

Thomas J.

Hudson

1 reference

6 February 2023

4

Carole Doré

Carole

Doré

1 reference

6 February 2023

James C. Engert

1

James C.

Engert

1 reference

6 February 2023

Pierre Bérubé

2

Pierre

Bérubé

1 reference

6 February 2023

Jocelyne Mercier

3

Jocelyne

Mercier

1 reference

6 February 2023

Pierre Lepage

5

Pierre

Lepage

1 reference

6 February 2023

Bing Ge

6

Bing

Ge

1 reference

6 February 2023

Martin Schalling

10

Martin

Schalling

1 reference

Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11.

6 February 2023

language of work or name

English

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publication date

February 2000

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published in

Nature Genetics

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volume

24

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page(s)

120-5

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issue

2

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cites work

1 reference

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Disequilibrium likelihoods for fine-scale mapping of a rare allele.

21 January 2018

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Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): high-resolution physical and transcript map of the candidate region in chromosome region 13q11.

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Human mucin gene MUC5B, the 10.7-kb large central exon encodes various alternate subdomains resulting in a super-repeat. Structural evidence for a 11p15.5 gene family.

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Social transmission of reproductive behavior increases frequency of inherited disorders in a young-expanding population

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Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro

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Geographic distribution of 18 autosomal recessive disorders in the French Canadian population of Saguenay-Lac-Saint-Jean, Quebec

21 January 2018

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Autosomal recessive spastic ataxia of Charlevoix–Saguenay

21 January 2018

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Prospects for whole-genome linkage disequilibrium mapping of common disease genes

21 January 2018

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7 January 2021

Chaperone-mediated protein folding

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7 January 2021

Radiation hybrid map of the mouse genome

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7 January 2021

Role of the protein chaperone YDJ1 in establishing Hsp90-mediated signal transduction pathways

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7 January 2021

Chaperone suppression of aggregation and altered subcellular proteasome localization imply protein misfolding in SCA1.

1 reference

7 January 2021

Impact of demographic distribution and population growth rate on haplotypic diversity linked to a disease gene and their consequences for the estimation of recombination rate: example of a French Canadian population

1 reference

7 January 2021