(Q34345088)

1 August 2017

Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia (English)

1 reference

1 August 2017

D S McCorquodale

1

1 reference

1 August 2017

U Ozomaro

2

1 reference

1 August 2017

J Huang

3

1 reference

1 August 2017

G Montenegro

4

1 reference

1 August 2017

A Kushman

5

1 reference

1 August 2017

L Citrigno

6

1 reference

1 August 2017

J Price

7

1 reference

1 August 2017

F Speziani

8

1 reference

1 August 2017

M A Pericak-Vance

9

1 reference

1 August 2017

S Züchner

10

1 reference

1 August 2017

1 June 2011

1 reference

1 August 2017

1 reference

1 August 2017

79

1 reference

1 August 2017

6

1 reference

1 August 2017

523-530

1 reference

A class of dynamin-like GTPases involved in the generation of the tubular ER network

1 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2990804

Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2990804

A cryptic promoter in the first exon of the SPG4 gene directs the synthesis of the 60-kDa spastin isoform

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2990804

REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2990804

Hereditary spastic paraplegias: an update

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2990804

Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2990804

Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2990804

Interaction of two hereditary spastic paraplegia gene products, spastin and atlastin, suggests a common pathway for axonal maintenance

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2990804

Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2990804

Traffic accidents: molecular genetic insights into the pathogenesis of the hereditary spastic paraplegias

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2990804

Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2990804

Advances in the hereditary spastic paraplegias

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2990804

SPG3A: An additional family carrying a new atlastin mutation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2990804

Mutations of SPG4 are responsible for a loss of function of spastin, an abundant neuronal protein localized in the nucleus

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2990804

A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10)

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2990804

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2990804

Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2990804

Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2990804

Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2990804

Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2990804

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2990804

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2990804

Persistent superior oblique paresis as a manifestation of familial periodic cerebellar ataxia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2990804

Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations

6 July 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01501.X

Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01501.X

Isoform-specific increase of spastin stability by N-terminal missense variants including intragenic modifiers of SPG4 hereditary spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01501.X

Heterozygous S44L missense change of the spastin gene in amyotrophic lateral sclerosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01501.X

Compound heterozygosity in the SPG4 gene causes hereditary spastic paraplegia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01501.X

The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01501.X

Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01501.X

Linkage to a known gene but no mutation identified: comprehensive reanalysis ofSPG4 HSP pedigrees reveals large deletions as the sole cause

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01501.X

Spastic paraplegia in Romania: high prevalence of SPG4 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01501.X

Assessment of a creatine kinase isoform M defect as a cause of myotonic dystrophy and the characterization of two novel CKMM polymorphisms

21 January 2018

1 reference

12 December 2020

Parental origin of diabetes-associated HLA types in sibling pairs with type I diabetes

1 reference

12 December 2020

Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations

1 reference

12 December 2020

Hereditary spastic paraplegia

1 reference

12 December 2020

High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia

1 reference

12 December 2020

10.1111/J.1399-0004.2010.01501.X

Identifiers

DOI

1 reference

1 August 2017

1 reference

1 August 2017

1 reference