(Q28201827)

English

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

scientific article (publication date: September 2003)

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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:12919135%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

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

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12919135%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

1 reference

based on heuristic

inferred from title

spastic paralysis

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

author name string

R S Devon

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12919135%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

J R Helm

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12919135%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

Y Leitner

4

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12919135%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

T Lerman-Sagie

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12919135%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

D Lev

6

1 reference

Europe PubMed Central

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6 November 2019

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publication date

1 September 2003

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12919135%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

Clinical Genetics

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12919135%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

64

1 reference

Europe PubMed Central

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6 November 2019

3

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12919135%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

210-215

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12919135%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

Base-calling of automated sequencer traces using phred. I. Accuracy assessment

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00138.X

21 January 2018

Consed: a graphical tool for sequence finishing

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00138.X

21 January 2018

Hereditary motor system diseases (chronic juvenile amyotrophic lateral sclerosis). Conditions combining a bilateral pyramidal syndrome with limb and bulbar amyotrophy

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00138.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00138.X

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/10.1034%2FJ.1399-0004.2003.00138.X

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/10.1034%2FJ.1399-0004.2003.00138.X

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00138.X

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/10.1034%2FJ.1399-0004.2003.00138.X

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/10.1034%2FJ.1399-0004.2003.00138.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Base-calling of automated sequencer traces using phred. II. Error probabilities

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00138.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Familial childhood primary lateral sclerosis with associated gaze paresis

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00138.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Infantile onset of hereditary ascending spastic paralysis with bulbar involvement

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00138.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Early versus late diagnosis: psychological impact on parents of children with cystic fibrosis

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00138.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Sensitive and efficient detection of RB1 gene mutations enhances care for families with retinoblastoma

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00138.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1034/J.1399-0004.2003.00138.X

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12919135%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

2 references

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12919135%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

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