Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia.

doi:10.1016/j.ajhg.2013.05.006

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Article

Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia.

American journal of human genetics - 11 Jul 2013

Boukhris Amir, Schule Rebecca, Loureiro José L, Lourenço Charles Marques, Mundwiller Emeline, Gonzalez Michael A, Charles Perrine, Gauthier Julie, Rekik Imen, Acosta Lebrigio Rafael F, Gaussen Marion, Speziani Fiorella, Ferbert Andreas, Feki Imed, Caballero-Oteyza Andrés, Dionne-Laporte Alexandre, Amri Mohamed, Noreau Anne, Forlani Sylvie, Cruz Vitor T, Mochel Fanny, Coutinho Paula, Dion Patrick, Mhiri Chokri, Schols Ludger, Pouget Jean, Darios Frédéric, Rouleau Guy A, Marques Wilson, Brice Alexis, Durr Alexandra, Zuchner Stephan, Stevanin Giovanni

Abstract excerpt

Hereditary spastic paraplegias (HSPs) form a heterogeneous group of neurological disorders. A whole-genome linkage mapping effort was made with three HSP-affected families from Spain, Portugal, and Tunisia and it allowed us to reduce the SPG26 locus interval from 34 to 9 Mb. Subsequently, a targeted capture was made to sequence the entire exome of affected individuals from these three families, as well as from...

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PMID: 23746551
DOI: 10.1016/j.ajhg.2013.05.006
PMCID: PMC3710753

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