(Q24680886)

hereditary spastic paraplegia

GOA release 2020-03-11

1 reference

7

0 references

Guy A. Rouleau

11

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Evan Reid

Evan Reid

8

0 references

Paul N. Valdmanis

Paul N Valdmanis

1

0 references

Patrick A Dion

9

Patrick A Dion

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Pierre Drapeau

10

Pierre Drapeau

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author name string

Inge A Meijer

2

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Annie Reynolds

3

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Adrienne Lei

4

0 references

Patrick MacLeod

5

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David Schlesinger

American Journal of Human Genetics

6

0 references

language of work or name

English

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publication date

January 2007

0 references

published in

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volume

80

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issue

1

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page(s)

152-61

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cites work

An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5' untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor dom

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785307

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785307

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785307

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785307

Strümpell's familial spastic paraplegia: genetics and neuropathology

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785307

Protein secondary structure prediction based on position-specific scoring matrices

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785307

SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785307

The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785307

RAD21 and KIAA0196 at 8q24 are amplified and overexpressed in prostate cancer

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785307

The spectrin repeat: a structural platform for cytoskeletal protein assemblies

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785307

Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785307

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785307

Effective targeted gene 'knockdown' in zebrafish

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785307

Faster sequential genetic linkage computations

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785307

Spectrin mutations cause spinocerebellar ataxia type 5.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785307

Traffic accidents: molecular genetic insights into the pathogenesis of the hereditary spastic paraplegias

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785307

TATA-binding protein-like protein (TLP/TRF2/TLF) negatively regulates cell cycle progression and is required for the stress-mediated G(2) checkpoint

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785307

TRF2 associates with DREF and directs promoter-selective gene expression in Drosophila

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785307

The prevalence of "pure" autosomal dominant hereditary spastic paraparesis in the island of Ireland.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785307

Hereditary spastic paraplegias

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785307

Novel 8-base pair sequence (Drosophila DNA replication-related element) and specific binding factor involved in the expression of Drosophila genes for DNA polymerase alpha and proliferating cell nuclear antigen

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785307

Classification of the hereditary ataxias and paraplegias

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785307

Advances in hereditary spastic paraplegia.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785307

Mutations affecting development of the midline and general body shape during zebrafish embryogenesis.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785307

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785307

The microtubule-severing protein Spastin is essential for axon outgrowth in the zebrafish embryo

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785307

A new locus for dominant hereditary spastic paraplegia maps to chromosome 2p12

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785307

Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785307

The extent of axonal loss in the long tracts in hereditary spastic paraplegia

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785307

Rapid Detection of CYP1A1, CYP2D6, and NAT Variants by Multiplex Polymerase Chain Reaction and Allele-Specific Oligonucleotide Assay

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785307

Hereditary ataxias and spastic paraplegias: methodological aspects of a prevalence study in Portugal.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1785307

Brazilian family with pure autosomal dominant spastic paraplegia maps to 8q: Analysis of muscle beta 1 syntrophin

28 November 2018

1 reference

12 December 2020

Dynamic allele-specific oligonucleotide hybridization on solid support

1 reference

12 December 2020

Crystal Structure of the alpha-Actinin Rod: Four Spectrin Repeats Forming a Thight Dimer

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1086/510782

1 reference

release_zwg2b3pqwvfxbgicccct5pcnfm

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/zwg2b3pqwvfxbgicccct5pcnfm

24 November 2022

mapped directly with Wikidata item

1 reference

1 reference

PubMed publication ID

17160902

1 reference