(Q42541134)

2 November 2017

0 references

Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia (English)

1 reference

hereditary spastic paraplegia

2 November 2017

1 reference

11

1 reference

2 November 2017

12

Alexandra Durr

1 reference

2 November 2017

13

Alexis Brice

1 reference

2 November 2017

1

Christel Depienne

1 reference

2 November 2017

6

Imed Feki

1 reference

2 November 2017

3

Sylvie Forlani

1 reference

2 November 2017

Chantal M E Tallaksen

series ordinal

7

object named as

Chantal Tallaksen

1 reference

2 November 2017

4

Cécile Cazeneuve

1 reference

2 November 2017

10

Merle Ruberg

1 reference

2 November 2017

2

Estelle Fedirko

1 reference

2 November 2017

5

Pascale Ribaï

1 reference

2 November 2017

8

Karine Nguyen

1 reference

2 November 2017

Bruno Stankoff

9

1 reference

2 November 2017

language of work or name

English

0 references

publication date

10 November 2006

1 reference

Journal of Medical Genetics

2 November 2017

1 reference

2 November 2017

44

1 reference

2 November 2017

281-284

1 reference

2 November 2017

4

1 reference

Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia

2 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598038

Missense and splice site mutations in SPG4 suggest loss-of-function in dominant spastic paraplegia

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598038

Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598038

A large family with hereditary spastic paraparesis due to a frame shift mutation of the spastin (SPG4) gene: association with multiple sclerosis in two affected siblings and epilepsy in other affected family members.

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598038

Hereditary spastic paraplegia caused by mutations in the SPG4 gene

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598038

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598038

Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598038

Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2598038

Clinical features of hereditary spastic paraplegia due to spastin mutation

16 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17098887

12 December 2020

inferred from PubMed ID database lookup

Three novel mutations of the spastin gene in Chinese patients with hereditary spastic paraplegia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17098887

12 December 2020

inferred from PubMed ID database lookup

Large deletion involving the 5'-UTR in the spastin gene caused mild phenotype of autosomal dominant hereditary spastic paraplegia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17098887

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1136/JMG.2006.046425

1 reference

release_ukr4u2rthnfbloellpffdp2oju

2 November 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ukr4u2rthnfbloellpffdp2oju

24 November 2022

mapped directly with Wikidata item

1 reference

2 November 2017

1 reference