(Q51896097)

English

Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.

scientific article published on 13 December 2007

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scholarly article

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Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/18079167

Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration. (English)

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17 April 2018

http://europepmc.org/abstract/MED/18079167

Giovanni Stevanin

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http://europepmc.org/abstract/MED/18079167

José L. Loureiro

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Paulo Alegria

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Christine Tranchant

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Christine Tranchant

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Alexandra Durr

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Alexis Brice

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Didier Hannequin

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Didier Hannequin

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Filippo Maria Santorelli

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Filippo M Santorelli

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Christel Depienne

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Amir Boukhris

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Imed Feki

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Sylvie Forlani

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Vitor T Cruz

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Cyril Goizet

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Chantal M E Tallaksen

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Chantal Tallaksen

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Isabelle Le Ber

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Hamid Azzedine

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Anne Kjersti Erichsen

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Anne Kjersti Erichsen

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Meriem Tazir

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Alexander Lossos

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Alexander Lossos

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Abdelmadjid Hamri

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Israela Lerer

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Paola Denora

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Jérémy Truchetto

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Jeremy Truchetto

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Florence Pasquier

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Florence Pasquier

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Masatoyo Nishizawa

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Masatoyo Nishizawa

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Soreya Belarbi

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Alberto Luis Rosa

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Masayoshi Tada

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Victoria Gonzalez-Martinez

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Kiyoshi Iwabuchi

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Vardiela Meiner

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Goekhan Uyanik

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Guillaume Garrigues

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José Vale

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SPATAX consortium

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publication date

13 December 2007

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http://europepmc.org/abstract/MED/18079167

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Pt 3

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772-784

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Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM293

21 January 2018

Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM293

21 January 2018

Clinical heterogeneity of autosomal recessive spastic paraplegias: analysis of 106 patients in 46 families.

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM293

21 January 2018

SPG11: a consistent clinical phenotype in a family with homozygous spatacsin truncating mutation.

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM293

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM293

21 January 2018

Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM293

21 January 2018

Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM293

21 January 2018

ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM293

21 January 2018

Advances in the hereditary spastic paraplegias

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM293

21 January 2018

“Mini-mental state”

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM293

21 January 2018

Prospective neuroimaging study in hereditary spastic paraplegia with thin corpus callosum.

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM293

21 January 2018

Classification of the hereditary ataxias and paraplegias

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM293

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM293

21 January 2018

Hereditary spastic paraplegia with thin corpus callosum: reduction of the SPG11 interval and evidence for further genetic heterogeneity.

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM293

21 January 2018

ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM293

21 January 2018

Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15.

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM293

21 January 2018

Further clinical and genetic characterization of SPG11: hereditary spastic paraplegia with thin corpus callosum.

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM293

21 January 2018

Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM293

21 January 2018

Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity.

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM293

21 January 2018

Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM293

21 January 2018

Recent advances in hereditary spastic paraplegia

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM293

21 January 2018

Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM293

21 January 2018

Thin corpus callosum and amyotrophy in spastic paraplegia--case report and review of literature

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM293

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM293

21 January 2018

Identifiers

10.1093/BRAIN/AWM293

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/18079167

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

17 April 2018

http://europepmc.org/abstract/MED/18079167

ResearchGate publication ID

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