(Q37657012)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24562058%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

title

ALS2 mutations: juvenile amyotrophic lateral sclerosis and generalized dystonia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24562058%20AND%20SRC:MED&resulttype=core&format=json

juvenile amyotrophic lateral sclerosis

8 March 2020

main subject

0 references

amyotrophic lateral sclerosis

1 reference

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24562058%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Franziska Hopfner

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24562058%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Nicholas W. Wood

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24562058%20AND%20SRC:MED&resulttype=core&format=json

Kailash Phatechand Bhatia

8 March 2020

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24562058%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

author name string

Una-Marie Sheerin

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24562058%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Susanne A Schneider

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24562058%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Lucinda Carr

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24562058%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

Maria Stamelou

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24562058%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

language of work or name

English

0 references

publication date

21 February 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24562058%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24562058%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

volume

82

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24562058%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

issue

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24562058%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

page(s)

1065-1067

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24562058%20AND%20SRC:MED&resulttype=core&format=json

Mice deficient in the Rab5 guanine nucleotide exchange factor ALS2/alsin exhibit age-dependent neurological deficits and altered endosome trafficking

8 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3962990

Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3962990

Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3962990

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

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3962990

AnALS2gene mutation causes hereditary spastic paraplegia in a Pakistani kindred

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3962990

A novel ALS2 splice-site mutation in a Cypriot juvenile-onset primary lateral sclerosis family

3 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24562058

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Novel compound heterozygous ALS2 mutations cause juvenile amyotrophic lateral sclerosis in Japan

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24562058

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1212/WNL.0000000000000254

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24562058%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24562058%20AND%20SRC:MED&resulttype=core&format=json

8 March 2020

PubMed publication ID

24562058

1 reference