(Q53452094)

English

Maternal uniparental heterodisomy with partial isodisomy of a chromosome 2 carrying a splice acceptor site mutation (IVS9-2A>T) in ALS2 causes infantile-onset ascending spastic paralysis (IAHSP).

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scholarly article

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Europe PubMed Central

PubMed publication ID

14 May 2018

http://europepmc.org/abstract/MED/18810511

Maternal uniparental heterodisomy with partial isodisomy of a chromosome 2 carrying a splice acceptor site mutation (IVS9-2A>T) in ALS2 causes infantile-onset ascending spastic paralysis (IAHSP). (English)

1 reference

Europe PubMed Central

PubMed publication ID

14 May 2018

http://europepmc.org/abstract/MED/18810511

spastic paralysis

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

2

1 reference

Europe PubMed Central

PubMed publication ID

14 May 2018

http://europepmc.org/abstract/MED/18810511

author name string

Thilo Herzfeld

1

1 reference

Europe PubMed Central

PubMed publication ID

14 May 2018

http://europepmc.org/abstract/MED/18810511

Pia Winter

3

1 reference

Europe PubMed Central

PubMed publication ID

14 May 2018

http://europepmc.org/abstract/MED/18810511

Holger Hackstein

4

1 reference

Europe PubMed Central

PubMed publication ID

14 May 2018

http://europepmc.org/abstract/MED/18810511

Daniel Vater

5

1 reference

Europe PubMed Central

PubMed publication ID

14 May 2018

http://europepmc.org/abstract/MED/18810511

Ulrich Müller

6

1 reference

Europe PubMed Central

PubMed publication ID

14 May 2018

http://europepmc.org/abstract/MED/18810511

publication date

23 September 2008

1 reference

Europe PubMed Central

PubMed publication ID

14 May 2018

http://europepmc.org/abstract/MED/18810511

1 reference

Europe PubMed Central

PubMed publication ID

14 May 2018

http://europepmc.org/abstract/MED/18810511

10

1 reference

Europe PubMed Central

PubMed publication ID

14 May 2018

http://europepmc.org/abstract/MED/18810511

1

1 reference

Europe PubMed Central

PubMed publication ID

14 May 2018

http://europepmc.org/abstract/MED/18810511

59-64

1 reference

Europe PubMed Central

PubMed publication ID

14 May 2018

http://europepmc.org/abstract/MED/18810511

https://scigraph.springernature.com/pub.10.1007/s10048-008-0148-y

0 references

Primary lateral sclerosis. Clinical features, neuropathology and diagnostic criteria

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0148-Y

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0148-Y

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0148-Y

21 January 2018

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/10.1007%2FS10048-008-0148-Y

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0148-Y

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0148-Y

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0148-Y

21 January 2018

Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2A.

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0148-Y

21 January 2018

Paternal isodisomy for chromosome 2 as the cause of Crigler-Najjar type I syndrome.

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0148-Y

21 January 2018

Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0148-Y

21 January 2018

Uniparental Disomy in Steroid 5 -Reductase 2 Deficiency

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0148-Y

21 January 2018

Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein deficiency due to homozygous alpha-subunit mutations

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0148-Y

21 January 2018

Computational and experimental identification of novel human imprinted genes

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0148-Y

21 January 2018

First case of compound heterozygosity in ALS2 gene in infantile-onset ascending spastic paralysis with bulbar involvement

1 reference

https://api.crossref.org/works/10.1007%2FS10048-008-0148-Y

21 January 2018

Maternal uniparental disomy for chromosome 2 in association with confined placental mosaicism for trisomy 2 and severe intrauterine growth retardation

1 reference

https://pubmed.ncbi.nlm.nih.gov/18810511

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Maternal uniparental disomy (UPD) for chromosome 2 discovered by exclusion of paternity

1 reference

https://pubmed.ncbi.nlm.nih.gov/18810511

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/18810511

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Maternal uniparental disomy of chromosome 2 and confined placental mosaicism for trisomy 2 in a fetus with intrauterine growth restriction, hypospadias, and oligohydramnios

1 reference

https://pubmed.ncbi.nlm.nih.gov/18810511

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

No evidence of uniparental disomy 2, 6, 14, 16, 20, and 22 as a major cause of intrauterine growth retardation

1 reference

https://pubmed.ncbi.nlm.nih.gov/18810511

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Uniparental disomy in steroid 5alpha-reductase 2 deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/18810511

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10048-008-0148-Y

1 reference

Europe PubMed Central

PubMed publication ID

14 May 2018

http://europepmc.org/abstract/MED/18810511

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

14 May 2018

http://europepmc.org/abstract/MED/18810511

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