Novel spastin mutations and their expression analysis in two Italian families.

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Functional conservation of human Spastin in a Drosophila model of autosomal dominant-hereditary spastic paraplegia Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.

P2860

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Novel spastin mutations and their expression analysis in two Italian families.

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http://www.wikidata.org/entity/Q44562488

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2003 nî lūn-bûn

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2003年の論文

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2003年学术文章

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2003年学术文章

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2003年学术文章

@zh-cn

2003年学术文章

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Novel spastin mutations and their expression analysis in two Italian families.

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Novel spastin mutations and their expression analysis in two Italian families.

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Item

label

Novel spastin mutations and their expression analysis in two Italian families.

@en

Novel spastin mutations and their expression analysis in two Italian families.

@nl

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Novel spastin mutations and their expression analysis in two Italian families.

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Novel spastin mutations and their expression analysis in two Italian families.

@nl

P1476

Novel spastin mutations and their expression analysis in two Italian families.

@en

P2093

Annamaria Molon

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Elena Pegoraro

http://www.w3.org/2001/XMLSchema#string

Pasquale Montagna

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P2860

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

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia

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

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

P2888

sj.ejhg.5201027

P304

710-713

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scholarly article

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10.1038/SJ.EJHG.5201027

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P478

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Corrado Angelini

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2003-09-01T00:00:00Z

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P5875

10596365

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P698

12939659

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Novel spastin mutations and their expression analysis in two Italian families.

about

P2860

P2860

Novel spastin mutations and their expression analysis in two Italian families.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

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P1433

P1476

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P2860

P2888

P304

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P356

P433

P478

P50

P577

P5875

P698