(Q74259320)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11471175%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

title

Silver syndrome is not linked to any of the previously established autosomal dominant hereditary spastic paraplegia loci (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11471175%20AND%20SRC:MED&resulttype=core&format=json

hereditary spastic paraplegia

9 November 2019

main subject

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11471175%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

author name string

H Patel

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11471175%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

P E Hart

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11471175%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

I Allen

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11471175%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

H E Phillimore

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11471175%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

J R Silver

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11471175%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

N W Wood

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11471175%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

S Jeffery

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11471175%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

M A Patton

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11471175%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

A H Crosby

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11471175%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

publication date

1 July 2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11471175%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics Part A

9 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11471175%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

volume

102

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11471175%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11471175%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

page(s)

68-72

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11471175%20AND%20SRC:MED&resulttype=core&format=json

Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease

9 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010722%29102%3A1%3C68%3A%3AAID-AJMG1411%3E3.0.CO%3B2-R

Novel syndromic form of X-linked complicated spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010722%29102%3A1%3C68%3A%3AAID-AJMG1411%3E3.0.CO%3B2-R

A procedure for combining two-point lod scores into a summary multipoint map.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010722%29102%3A1%3C68%3A%3AAID-AJMG1411%3E3.0.CO%3B2-R

Developmental trends of sleep-disordered breathing in Prader-Willi syndrome: the role of obesity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010722%29102%3A1%3C68%3A%3AAID-AJMG1411%3E3.0.CO%3B2-R

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010722%29102%3A1%3C68%3A%3AAID-AJMG1411%3E3.0.CO%3B2-R

Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010722%29102%3A1%3C68%3A%3AAID-AJMG1411%3E3.0.CO%3B2-R

Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010722%29102%3A1%3C68%3A%3AAID-AJMG1411%3E3.0.CO%3B2-R

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010722%29102%3A1%3C68%3A%3AAID-AJMG1411%3E3.0.CO%3B2-R

Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010722%29102%3A1%3C68%3A%3AAID-AJMG1411%3E3.0.CO%3B2-R

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010722%29102%3A1%3C68%3A%3AAID-AJMG1411%3E3.0.CO%3B2-R

Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010722%29102%3A1%3C68%3A%3AAID-AJMG1411%3E3.0.CO%3B2-R

X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010722%29102%3A1%3C68%3A%3AAID-AJMG1411%3E3.0.CO%3B2-R

Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010722%29102%3A1%3C68%3A%3AAID-AJMG1411%3E3.0.CO%3B2-R

Hereditary ataxias and paraplegias in Cantabria, Spain. An epidemiological and clinical study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010722%29102%3A1%3C68%3A%3AAID-AJMG1411%3E3.0.CO%3B2-R

A new locus for autosomal dominant "pure" hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010722%29102%3A1%3C68%3A%3AAID-AJMG1411%3E3.0.CO%3B2-R

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010722%29102%3A1%3C68%3A%3AAID-AJMG1411%3E3.0.CO%3B2-R

X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010722%29102%3A1%3C68%3A%3AAID-AJMG1411%3E3.0.CO%3B2-R

The role of mitochondrial dysfunction and neuronal nitric oxide in animal models of neurodegenerative diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010722%29102%3A1%3C68%3A%3AAID-AJMG1411%3E3.0.CO%3B2-R

Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010722%29102%3A1%3C68%3A%3AAID-AJMG1411%3E3.0.CO%3B2-R

A new locus for autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy, SPG14, maps to chromosome 3q27-q28.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820010722%29102%3A1%3C68%3A%3AAID-AJMG1411%3E3.0.CO%3B2-R

10.1002/1096-8628(20010722)102:1<68::AID-AJMG1411>3.0.CO;2-R

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11471175%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

1 reference