Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration-Reference-Cited by-同舟云学术

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

Published:2007-12-13 Issue:3 Volume:131 Page:772-784
ISSN:1460-2156
Container-title:Brain
language:en
Short-container-title:

Author:

Stevanin Giovanni,Azzedine Hamid,Denora Paola,Boukhris Amir,Tazir Meriem,Lossos Alexander,Rosa Alberto Luis,Lerer Israela,Hamri Abdelmadjid,Alegria Paulo,Loureiro José,Tada Masayoshi,Hannequin Didier,Anheim Mathieu,Goizet Cyril,Gonzalez-Martinez Victoria,Le Ber Isabelle,Forlani Sylvie,Iwabuchi Kiyoshi,Meiner Vardiela,Uyanik Goekhan,Erichsen Anne Kjersti,Feki Imed,Pasquier Florence,Belarbi Soreya,Cruz Vitor T.,Depienne Christel,Truchetto Jeremy,Garrigues Guillaume,Tallaksen Chantal,Tranchant Christine,Nishizawa Masatoyo,Vale José,Coutinho Paula,Santorelli Filippo M.,Mhiri Chokri,Brice Alexis,Durr Alexandra

Publisher

Oxford University Press (OUP)

Subject

Clinical Neurology

Link

http://academic.oup.com/brain/article-pdf/131/3/772/13734502/awm293.pdf

Reference31 articles.

1. Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum;Casali;Neurology,2004

2. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease;Casari;Cell,1998

3. Clinical heterogeneity of autosomal recessive spastic paraplegias: analysis of 106 patients in 46 families;Coutinho;Arch Neurol,1999

4. SPG11: a consistent clinical phenotype in a family with homozygous Spatacsin truncating mutation;Del Bo;Neurogenetics,2007

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