Concepedia

Identification of the SPG15 Gene, Encoding Spastizin, as a Frequent Cause of Complicated Autosomal-Recessive Spastic Paraplegia, Including Kjellin Syndrome

Sylvain Hanein, Elodie Martin, Amir Boukhris, P. Byrne, Cyril Goizet, Abdelmadjid Hamri, Ali Benomar, Alexander Lossos, Paola S. Denora, José Carlos Fernández Fernández,

The American Journal of Human Genetics · 2008 · 213 citations · 25 references

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25

CLASSIFICATION OF THE HEREDITARY ATAXIAS AND PARAPLEGIAS

A. E. Harding · The Lancet · 1983 · 961 citations

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Spastic Paraplegia and OXPHOS Impairment Caused by Mutations in Paraplegin, a Nuclear-Encoded Mitochondrial Metalloprotease

Giorgio Casari, Maurizio De Fusco, Sonia Ciarmatori et al. · Cell · 1998 · 829 citations · Full text

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

James C. Engert, Pierre Bérubé, Jocelyne Mercier et al. · Nature Genetics · 2000 · 436 citations

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“TENNIS THUMB”

MichaelC. Oldfield · The Lancet · 1951 · 345 citations

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

Giovanni Stévanin, Filippo M. Santorelli, Hamid Azzedine et al. · Nature Genetics · 2007 · 332 citations

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