(Q28216957)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12163196%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

title

Three novel spastin (SPG4) mutations in families with autosomal dominant hereditary spastic paraplegia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12163196%20AND%20SRC:MED&resulttype=core&format=json

hereditary spastic paraplegia

11 November 2019

main subject

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12163196%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

Thomas T. Warner

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12163196%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

author name string

Paul E Hart

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12163196%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

Amy Cornish

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12163196%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

Andrew H Crosby

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12163196%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

language of work or name

English

0 references

publication date

1 September 2002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12163196%20AND%20SRC:MED&resulttype=core&format=json

Journal of the Neurological Sciences

11 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12163196%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

volume

201

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12163196%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

issue

1-2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12163196%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

page(s)

65-69

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12163196%20AND%20SRC:MED&resulttype=core&format=json

Hereditary spastic paraparesis: a review of new developments.

11 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900192-2

Recent advances in hereditary spastic paraplegia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900192-2

The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900192-2

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900192-2

Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900192-2

Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900192-2

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.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900192-2

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900192-2

Hereditary spastic paraplegia caused by mutations in the SPG4 gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900192-2

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900192-2

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900192-2

Hereditary "pure" spastic paraplegia: a clinical and genetic study of 22 families

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900192-2

Autosomal dominant pure spastic paraplegia: a clinical, paraclinical, and genetic study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2802%2900192-2

10.1016/S0022-510X(02)00192-2

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12163196%20AND%20SRC:MED&resulttype=core&format=json

11 November 2019

1 reference