(Q54278915)

27 May 2018

title

SPAST mutations in Australian patients with hereditary spastic paraplegia. (English)

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27 May 2018

author name string

H Vandebona

1

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27 May 2018

N P Kerr

2

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27 May 2018

C Liang

3

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27 May 2018

C M Sue

4

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27 May 2018

publication date

1 December 2012

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27 May 2018

Internal Medicine Journal

published in

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27 May 2018

volume

42

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27 May 2018

issue

12

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27 May 2018

page(s)

1342-1347

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27 May 2018

Classification of the hereditary ataxias and paraplegias

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1445-5994.2012.02941.X

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

21 January 2018

1 reference

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Direct evidence for axonal transport defects in a novel mouse model of mutant spastin-induced hereditary spastic paraplegia (HSP) and human HSP patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1445-5994.2012.02941.X

Novel mutations in spastin gene and absence of correlation with age at onset of symptoms

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1445-5994.2012.02941.X

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1445-5994.2012.02941.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1445-5994.2012.02941.X

A method and server for predicting damaging missense mutations

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1445-5994.2012.02941.X

Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1445-5994.2012.02941.X

Structural basis of microtubule severing by the hereditary spastic paraplegia protein spastin

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1445-5994.2012.02941.X

Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1445-5994.2012.02941.X

Detection of novel mutations and review of published data suggests that hereditary spastic paraplegia caused by spastin (SPAST) mutations is found more often in males.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1445-5994.2012.02941.X

Pleiotropic effects of spastin on neurite growth depending on expression levels.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1445-5994.2012.02941.X

Hereditary spastic paraparesis: disrupted intracellular transport associated with spastin mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1445-5994.2012.02941.X

Quantitative and functional analyses of spastin in the nervous system: implications for hereditary spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1445-5994.2012.02941.X

Evaluation of loss of function as an explanation for SPG4-based hereditary spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1445-5994.2012.02941.X

Eight Novel Mutations in SPG4 in a Large Sample of Patients With Hereditary Spastic Paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1445-5994.2012.02941.X

10.1111/J.1445-5994.2012.02941.X

21 January 2018

Identifiers

DOI

1 reference

27 May 2018

1 reference

27 May 2018