Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A (Q28290806)

8

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Corinne Cruaud

5

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Jean Weissenbach

7

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Alexandra Durr

4

Alexandra Dürr

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Sven Klimpe

9

Sven Klimpe

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Jamilé Hazan

11

Jamilé Hazan

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Nuria Fonknechten

2

Nuria Fonknechten

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author name string

Annette Abel

1

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Anne Hofer

3

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Thomas Voit

6

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Georg Auburger

https://scigraph.springernature.com/pub.10.1007/s10048-004-0191-2

10

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language of work or name

English

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publication date

December 2004

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published in

Neurogenetics

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volume

5

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page(s)

239-43

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issue

4

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exact match

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cites work

Infancy onset hereditary spastic paraplegia associated with a novel atlastin mutation

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10048-004-0191-2

SPG3A: An additional family carrying a new atlastin mutation

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10048-004-0191-2

Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3

1 reference

12 December 2020

Strümpell's familial spastic paraplegia: genetics and neuropathology

1 reference

12 December 2020

Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia

1 reference

12 December 2020

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

1 reference

12 December 2020

Advances in the hereditary spastic paraplegias

1 reference

12 December 2020

Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus

1 reference

12 December 2020

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia

1 reference

12 December 2020

Quality assessment of whole genome mapping data in the refined familial spastic paraplegia interval on chromosome 14q.

1 reference

12 December 2020

Autosomal dominant familial spastic paraplegia: reduction of the FSP1 candidate region on chromosome 14q to 7 cM and locus heterogeneity

1 reference

12 December 2020

Cellular Localization, Oligomerization, and Membrane Association of the Hereditary Spastic Paraplegia 3A (SPG3A) Protein Atlastin

1 reference

12 December 2020

Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q

1 reference

12 December 2020

SPG3A mutation screening in English families with early onset autosomal dominant hereditary spastic paraplegia

1 reference

12 December 2020

Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia

1 reference

12 December 2020