(Q24531747)

English

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

scientific article

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

4 July 2017

0 references

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

1 reference

Europe PubMed Central

4 July 2017

1 reference

based on heuristic

inferred from title

hereditary spastic paraplegia

1 reference

based on heuristic

inferred from title

Richard Houlston

object named as

Houlston RS

4

1 reference

ORCID Public Data File 2021

author name string

Patel H

1

1 reference

Europe PubMed Central

4 July 2017

Hart PE

2

1 reference

Europe PubMed Central

4 July 2017

Warner TT

3

1 reference

Europe PubMed Central

4 July 2017

Patton MA

5

1 reference

Europe PubMed Central

4 July 2017

Jeffery S

6

1 reference

Europe PubMed Central

4 July 2017

Crosby AH

7

1 reference

Europe PubMed Central

4 July 2017

language of work or name

0 references

publication date

25 May 2001

1 reference

Europe PubMed Central

4 July 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

4 July 2017

69

1 reference

Europe PubMed Central

4 July 2017

209-215

1 reference

Europe PubMed Central

4 July 2017

1

1 reference

Europe PubMed Central

4 July 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226036

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226036

24 March 2017

The copper chaperone CCS directly interacts with copper/zinc superoxide dismutase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226036

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226036

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226036

24 March 2017

Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226036

24 March 2017

Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226036

24 March 2017

Strategies for multilocus linkage analysis in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226036

24 March 2017

The YTA10-12 complex, an AAA protease with chaperone-like activity in the inner membrane of mitochondria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226036

24 March 2017

Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226036

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226036

24 March 2017

Multilocus linkage analysis in humans: detection of linkage and estimation of recombination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226036

7 April 2017

Novel syndromic form of X-linked complicated spastic paraplegia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226036

27 September 2017

Hereditary spastic paraparesis: a review of new developments.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226036

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226036

27 September 2017

Chromosomal localization of CCS, the copper chaperone for Cu/Zn superoxide dismutase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226036

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226036

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226036

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226036

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226036

27 September 2017

Hereditary spastic paraplegia: advances in genetic research. Hereditary Spastic Paraplegia Working group

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226036

27 September 2017

Hereditary "pure" spastic paraplegia: a study of nine families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226036

27 September 2017

Hereditary spastic paraplegias

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226036

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226036

27 September 2017

Spastic paraplegia, epilepsy, and mental retardation in several members of a family: a novel genetic disorder.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226036

30 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226036

28 July 2018

CAG repeat expansion in autosomal dominant pure spastic paraplegia linked to chromosome 2p21-p24

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226036

29 November 2018

Avoiding recomputation in linkage analysis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226036

29 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226036

29 November 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/11389484

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The phenotype of "pure" autosomal dominant spastic paraplegia

1 reference

https://pubmed.ncbi.nlm.nih.gov/11389484

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/11389484

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pure familial spastic paraplegia: clinical and genetic analysis of nine Belgian pedigrees

1 reference

https://pubmed.ncbi.nlm.nih.gov/11389484

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Linkage of AD HSP and cognitive impairment to chromosome 2p: haplotype and phenotype analysis indicates variable expression and low or delayed penetrance

1 reference

https://pubmed.ncbi.nlm.nih.gov/11389484

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

4 July 2017

1 reference

Europe PubMed Central

4 July 2017

1 reference

Europe PubMed Central

4 July 2017

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q24531747&oldid=1582328741"