A new familial amyotrophic lateral sclerosis locus on chromosome 16q12.1-16q12.2. (Q33905221)

29 July 2017

0 references

A new familial amyotrophic lateral sclerosis locus on chromosome 16q12.1-16q12.2. (English)

1 reference

amyotrophic lateral sclerosis

29 July 2017

main subject

0 references

author

Jacqueline de Belleroche

5

object named as

Jacqueline de Belleroche

0 references

author name string

Halah Abalkhail

1

1 reference

29 July 2017

John Mitchell

2

1 reference

29 July 2017

James Habgood

3

1 reference

29 July 2017

Richard Orrell

4

1 reference

29 July 2017

language of work or name

English

0 references

publication date

26 June 2003

1 reference

American Journal of Human Genetics

29 July 2017

published in

1 reference

29 July 2017

volume

73

1 reference

29 July 2017

issue

2

1 reference

29 July 2017

page(s)

383-389

1 reference

Superoxide dismutase and the death of motoneurons in ALS.

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=1180375

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=1180375

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=1180375

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=1180375

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=1180375

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=1180375

Amyotrophic lateral sclerosis: recent advances in understanding disease mechanisms.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180375

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=1180375

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=1180375

Estimating the power of a proposed linkage study for a complex genetic trait.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180375

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=1180375

El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis. Subcommittee on Motor Neuron Diseases/Amyotrophic Lateral Sclerosis of the World Federation of Neurology Research Group on Neuromuscular Diseases a

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1180375

A gene for autosomal dominant juvenile amyotrophic lateral sclerosis (ALS4) localizes to a 500-kb interval on chromosome 9q34

29 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12830400

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Clinical and functional investigation of 10 missense mutations and a novel frameshift insertion mutation of the gene for copper-zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12830400

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/12830400

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/377156

1 reference

29 July 2017

1 reference

29 July 2017

1 reference