(Q44562488)

4 December 2017

title

Novel spastin mutations and their expression analysis in two Italian families (English)

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4 December 2017

3

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4 December 2017

Annamaria Molon

1

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4 December 2017

Pasquale Montagna

series ordinal

2

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4 December 2017

Elena Pegoraro

series ordinal

4

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4 December 2017

publication date

1 September 2003

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European Journal of Human Genetics

4 December 2017

published in

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4 December 2017

volume

11

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4 December 2017

issue

9

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4 December 2017

page(s)

710-713

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

4 December 2017

cites work

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201027

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201027

Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201027

RNA metabolism in myotonic dystrophy: patient muscle shows decreased insulin receptor RNA and protein consistent with abnormal insulin resistance.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201027

21 January 2018

Identifiers

DOI

10.1038/SJ.EJHG.5201027

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4 December 2017

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