Refinement of the SPG9 locus on chromosome 10q23.3-24.2 and exclusion of candidate genes

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ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism

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Q28115823-345EDA74-B7A2-4457-B466-39DAECB9A115

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Refinement of the SPG9 locus on chromosome 10q23.3-24.2 and exclusion of candidate genes

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wetenschappelijk artikel

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наукова стаття, опублікована в травні 2008

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Refinement of the SPG9 locus on chromosome 10q23.3-24.2 and exclusion of candidate genes

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Refinement of the SPG9 locus on chromosome 10q23.3-24.2 and exclusion of candidate genes

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Refinement of the SPG9 locus on chromosome 10q23.3-24.2 and exclusion of candidate genes

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Refinement of the SPG9 locus on chromosome 10q23.3-24.2 and exclusion of candidate genes

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Refinement of the SPG9 locus on chromosome 10q23.3-24.2 and exclusion of candidate genes

@en

Refinement of the SPG9 locus on chromosome 10q23.3-24.2 and exclusion of candidate genes

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P1476

Refinement of the SPG9 locus on chromosome 10q23.3-24.2 and exclusion of candidate genes

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G A Rouleau

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G Romeo

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L Pradella

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P Montagna

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R Cusano

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R Ravazzolo

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S Contardi

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T Pippucci

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P2860

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

Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia

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

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

Identification and characterization of a novel human brain-specific gene, homologous to S. scrofa tmp83.5, in the chromosome 10q24 critical region for temporal lobe epilepsy and spastic paraplegia.

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.

ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia

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

Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegias

A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome 14q12-q21.

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520-524

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scholarly article

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10.1111/J.1468-1331.2008.02117.X

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English

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2008-05-01T00:00:00Z

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18394049

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Refinement of the SPG9 locus on chromosome 10q23.3-24.2 and exclusion of candidate genes

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P2860

P2860

Refinement of the SPG9 locus on chromosome 10q23.3-24.2 and exclusion of candidate genes

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698