(Q28182779)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14607301%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

title

SPG3A mutation screening in English families with early onset autosomal dominant hereditary spastic paraplegia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14607301%20AND%20SRC:MED&resulttype=core&format=json

hereditary spastic paraplegia

20 December 2019

main subject

1 reference

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14607301%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

author name string

P A Wilkinson

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14607301%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

P E Hart

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14607301%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

H Patel

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14607301%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

A H Crosby

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14607301%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

language of work or name

English

0 references

publication date

1 December 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14607301%20AND%20SRC:MED&resulttype=core&format=json

Journal of the Neurological Sciences

20 December 2019

number of pages

3

1 reference

based on heuristic

inferred from page(s)

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14607301%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

volume

216

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14607301%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14607301%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

page(s)

43-45

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14607301%20AND%20SRC:MED&resulttype=core&format=json

Hereditary spastic paraplegias

20 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900210-7

Is the transportation highway the right road for hereditary spastic paraplegia?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900210-7

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%2803%2900210-7

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900210-7

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%2803%2900210-7

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900210-7

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900210-7

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900210-7

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900210-7

Autosomal dominant spastic paraplegia: refined SPG8 locus and additional genetic heterogeneity

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-510X%2803%2900210-7

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%2803%2900210-7

10.1016/S0022-510X(03)00210-7

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14607301%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

1 reference