(Q24540118)

6 July 2017

title

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

1 reference

hereditary spastic paraplegia

6 July 2017

main subject

1 reference

P Hedera

1

1 reference

6 July 2017

S Rainier

2

1 reference

6 July 2017

D Alvarado

3

1 reference

6 July 2017

X Zhao

4

1 reference

6 July 2017

J Williamson

5

1 reference

6 July 2017

B Otterud

6

1 reference

6 July 2017

M Leppert

7

1 reference

6 July 2017

J K Fink

8

1 reference

6 July 2017

language of work or name

English

0 references

publication date

1 February 1999

1 reference

American Journal of Human Genetics

6 July 2017

published in

1 reference

6 July 2017

volume

64

1 reference

6 July 2017

issue

2

1 reference

6 July 2017

page(s)

563-569

1 reference

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

6 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=1377766

A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377766

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377766

Autosomal dominant familial spastic paraplegia: reduction of the FSP1 candidate region on chromosome 14q to 7 cM and locus heterogeneity

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377766

Strümpell's familial spastic paraplegia: genetics and neuropathology

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377766

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377766

Polymorphic DNA region adjacent to the 5' end of the human insulin 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=1377766

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377766

Hereditary (familial) spastic paraplegia; further clinical and pathologic observations.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377766

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377766

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377766

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377766

Hereditary spastic paraplegias

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377766

X-linked pure familial spastic paraparesis. Characterization of a large kindred with magnetic resonance imaging studies

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377766

Etiological heterogeneity in X-linked 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=1377766

A Dutch family with autosomal dominant pure spastic paraparesis (Strümpell's disease).

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377766

X-linked recessive type of pure spastic paraplegia in a large pedigree: absence of detectable linkage with Xg

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377766

Strumpell's pure familial spastic paraplegia: case study and review of the literature

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377766

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=1377766

Hereditary spastic paraplegia in Western Norway.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377766

HEREDITARY SPASTIC PARAPLEGIA.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377766

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377766

The autosomal dominant form of "pure" familial spastic paraplegia: clinical findings and linkage analysis of a large pedigree

29 November 2018

1 reference

12 December 2020

Sphincter involvement in hereditary spastic paraplegia

1 reference

12 December 2020

The rumpshaker mutation in spastic paraplegia

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Autosomal dominant, familial spastic paraplegia, type I: clinical and genetic analysis of a large North American family

1 reference

12 December 2020

Clinical heterogeneity of familial spastic paraplegia linked to chromosome 2p21

1 reference

12 December 2020

Identifiers

DOI

10.1086/302258

1 reference

6 July 2017

1 reference

6 July 2017

1 reference