(Q24533436)

4 July 2017

title

Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia (English)

1 reference

hereditary spastic paraplegia

4 July 2017

main subject

1 reference

9

1 reference

4 July 2017

12

1 reference

ORCID Public Data File 2021

Allison Ashley-Koch

2

object named as

A E Ashley-Koch

1 reference

Margaret A. Pericak-Vance

4 July 2017

11

object named as

M A Pericak-Vance

1 reference

4 July 2017

I K Svenson

1

1 reference

4 July 2017

P C Gaskell

3

1 reference

4 July 2017

T J Riney

4

1 reference

4 July 2017

W J Cumming

5

1 reference

4 July 2017

H M Kingston

6

1 reference

4 July 2017

E L Hogan

7

1 reference

4 July 2017

R M Boustany

8

1 reference

4 July 2017

M A Nance

10

1 reference

4 July 2017

D A Marchuk

12

1 reference

4 July 2017

language of work or name

English

0 references

publication date

16 April 2001

1 reference

American Journal of Human Genetics

4 July 2017

published in

1 reference

4 July 2017

volume

68

1 reference

4 July 2017

issue

5

1 reference

4 July 2017

page(s)

1077-1085

1 reference

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

4 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226088

AAA+: A class of chaperone-like ATPases associated with the assembly, operation, and disassembly of protein complexes

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226088

Novel mutations in spastin gene and absence of correlation with age at onset of symptoms

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226088

Hereditary spastic paraplegia caused by mutations in the SPG4 gene

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226088

Intrafamilial variability in hereditary spastic paraplegia associated with an SPG4 gene mutation

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226088

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226088

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226088

Hereditary spastic paraparesis: a review of new developments.

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226088

A locus for autosomal dominant "pure" hereditary spastic paraplegia maps to chromosome 19q13

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226088

A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226088

The AAA team: related ATPases with diverse functions

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226088

Conformation sensitive gel electrophoresis for simple and accurate detection of mutations: comparison with denaturing gradient gel electrophoresis and nucleotide sequencing

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226088

Estimating the power of a proposed linkage study: a practical computer simulation approach

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226088

Estimating the power of a proposed linkage study for a complex genetic trait.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226088

Advances in hereditary spastic paraplegia.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226088

Locus heterogeneity, anticipation and reduction of the chromosome 2p minimal candidate region in autosomal dominant familial spastic paraplegia

30 May 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11309678

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/320111

1 reference

4 July 2017

1 reference

4 July 2017

1 reference