(Q53470815)

28 May 2018

title

NIPA1 mutation in complex hereditary spastic paraplegia with epilepsy. (English)

1 reference

28 May 2018

author

Jakob Christensen

3

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28 May 2018

Esben Budtz-Jørgensen

4

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28 May 2018

author name string

K Svenstrup

1

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28 May 2018

R S Møller

2

1 reference

28 May 2018

M Gilling

5

1 reference

28 May 2018

J E Nielsen

6

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28 May 2018

publication date

22 February 2011

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28 May 2018

European Journal of Neurology

published in

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28 May 2018

volume

18

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28 May 2018

issue

9

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28 May 2018

page(s)

1197-1199

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28 May 2018

Classification of the hereditary ataxias and paraplegias

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2011.03359.X

Recent advances in the genetics of spastic paraplegias

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2011.03359.X

NIPA1 Gene Mutations Cause Autosomal Dominant Hereditary Spastic Paraplegia (SPG6)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2011.03359.X

Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2011.03359.X

Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2011.03359.X

A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2011.03359.X

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2011.03359.X

NovelSPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2011.03359.X

NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1468-1331.2011.03359.X

10.1111/J.1468-1331.2011.03359.X

21 January 2018

Identifiers

DOI

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28 May 2018

PubMed ID

21599812

1 reference

28 May 2018