Two families with familial amyotrophic lateral sclerosis are linked to a novel locus on chromosome 16q. (Q33905226)

29 July 2017

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Two families with familial amyotrophic lateral sclerosis are linked to a novel locus on chromosome 16q. (English)

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amyotrophic lateral sclerosis

29 July 2017

main subject

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1 reference

29 July 2017

Caroline Vance

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29 July 2017

Ammar Al-Chalabi

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Cathryn M Lewis

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Teepu Siddique

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P Nigel Leigh

1 reference

29 July 2017

Deborah M Ruddy

1 reference

29 July 2017

Matthew J Parton

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29 July 2017

Bradley N Smith

1 reference

29 July 2017

John F Powell

1 reference

29 July 2017

Eelco Postumus Meyjes

1 reference

29 July 2017

Vianney de Jong

1 reference

29 July 2017

Christopher E Shaw

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29 July 2017

language of work or name

English

0 references

publication date

1 July 2003

1 reference

American Journal of Human Genetics

29 July 2017

published in

1 reference

29 July 2017

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29 July 2017

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29 July 2017

page(s)

390-396

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Progress in the pathogenesis of amyotrophic lateral sclerosis

29 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180376

From Charcot to Lou Gehrig: deciphering selective motor neuron death in ALS

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180376

A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180376

A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180376

The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180376

High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the Netherlands

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180376

Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180376

PedCheck: a program for identification of genotype incompatibilities in linkage analysis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180376

Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180376

Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180376

Faster sequential genetic linkage computations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180376

Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180376

Computer-simulation methods in human linkage analysis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180376

Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180376

Familial amyotrophic lateral sclerosis. Molecular pathology of a patient with a SOD1 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=1180376

SOD1 mutation is associated with accumulation of neurofilaments in amyotrophic lateral sclerosis.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180376

Computer programs for multilocus haplotyping of general pedigrees.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180376

Natural history of amyotrophic lateral sclerosis in a database population Validation of a scoring system and a model for survival prediction

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180376

Mutations in all five exons ofSOD-1 may cause ALS

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180376

Linkage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity

29 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12840784

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12840784

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/377157

1 reference

29 July 2017

1 reference

29 July 2017

1 reference