(Q81395356)

English

Novel homozygous ALS2 nonsense mutation (p.Gln715X) in sibs with infantile-onset ascending spastic paralysis: the first cases from northwestern Europe

scientific article published on 04 June 2008

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18523452%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

Novel homozygous ALS2 nonsense mutation (p.Gln715X) in sibs with infantile-onset ascending spastic paralysis: the first cases from northwestern Europe (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18523452%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

spastic paralysis

1 reference

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inferred from title

1 reference

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author name string

Corien C Verschuuren-Bemelmans

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18523452%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

Pia Winter

2

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8 January 2020

Deborah A Sival

3

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8 January 2020

Jan-Willem Elting

4

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8 January 2020

Oebele F Brouwer

5

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8 January 2020

Ulrich Müller

6

1 reference

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8 January 2020

publication date

4 June 2008

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8 January 2020

European Journal of Human Genetics

1 reference

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8 January 2020

16

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8 January 2020

11

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8 January 2020

1407-1411

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8 January 2020

https://scigraph.springernature.com/pub.10.1038/ejhg.2008.108

0 references

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.108

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.108

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.108

7 January 2021

based on heuristic

inferred from DOI database lookup

AnALS2gene mutation causes hereditary spastic paraplegia in a Pakistani kindred

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.108

7 January 2021

based on heuristic

inferred from DOI database lookup

Primary lateral sclerosis. Clinical features, neuropathology and diagnostic criteria

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.108

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.108

7 January 2021

based on heuristic

inferred from DOI database lookup

Isolation and characterization of the active cDNA of the human cell cycle gene (RCC1) involved in the regulation of onset of chromosome condensation

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.108

7 January 2021

based on heuristic

inferred from DOI database lookup

Guanine nucleotide exchange factors for Rho GTPases: turning on the switch

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.108

7 January 2021

based on heuristic

inferred from DOI database lookup

ALS2, a novel guanine nucleotide exchange factor for the small GTPase Rab5, is implicated in endosomal dynamics

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.108

7 January 2021

based on heuristic

inferred from DOI database lookup

Novel missense mutation in ALS2 gene results in infantile ascending hereditary spastic paralysis.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.108

7 January 2021

based on heuristic

inferred from DOI database lookup

Novel mutation in the ALS2 gene in juvenile amyotrophic lateral sclerosis

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.108

7 January 2021

based on heuristic

inferred from DOI database lookup

The first ALS2 missense mutation associated with JPLS reveals new aspects of alsin biological function

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.108

7 January 2021

based on heuristic

inferred from DOI database lookup

The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.108

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular and cellular function of ALS2/alsin: implication of membrane dynamics in neuronal development and degeneration.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.108

7 January 2021

based on heuristic

inferred from DOI database lookup

Alsin is a Rab5 and Rac1 guanine nucleotide exchange factor

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.108

7 January 2021

based on heuristic

inferred from DOI database lookup

Cross-species characterization of the ALS2 gene and analysis of its pattern of expression in development and adulthood

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2008.108

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/EJHG.2008.108

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18523452%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18523452%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

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