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TITLE: Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia
AUTHORS: Amir Boukhris; Rebecca Schule; Jose L Loureiro ; Charles Marques Lourenco; Emeline Mundwiller; Michael A Gonzalez; Perrine Charles; Julie Gauthier; Imen Rekik; Rafael F A Acosta Lebrigio; Marion Gaussen; Fiorella Speziani; Andreas Ferbert; Imed Feki; Andres Caballero Oteyza; Alexandre Dionne Laporte; Mohamed Amri; Anne Noreau; Sylvie Forlani; Vitor T Cruz ; Fanny Mochel; Paula Coutinho ; Patrick Dion; Chokri Mhiri; Ludger Schols; Jean Pouget; Frederic Darios; Guy A Rouleau; Wilson Marques; Alexis Brice; Alexandra Durr; Stephan Zuchner; Giovanni Stevanin; ...More
PUBLISHED: 2013, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 93, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 145
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TITLE: CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5  Full Text
AUTHORS: Cyril Goizet; Amir Boukhris; Alexandra Durr; Christian Beetz; Jeremy Truchetto; Christelle Tesson; Maria Tsaousidou; Sylvie Forlani; Lucie Guyant Marechal; Bertrand Fontaine; Joao Guimaraes; Bertrand Isidor; Olivier Chazouilleres; Dominique Wendum; Djamel Grid; Francoise Chevy; Patrick F Chinnery; Paula Coutinho ; Jean Philippe Azulay; Imed Feki; Fanny Mochel; Claude Wolf; Chokri Mhiri; Andrew Crosby; Alexis Brice; Giovanni Stevanin; ...More
PUBLISHED: 2009, SOURCE: BRAIN, VOLUME: 132, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef
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TITLE: Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration  Full Text
AUTHORS: Giovanni Stevanin; Hamid Azzedine; Paola Denora; Amir Boukhris; Meriem Tazir; Alexander Lossos; Alberto Luis Rosa; Israela Lerer; Abdelmadjid Hamri; Paulo Alegria; Jose Loureiro ; Masayoshi Tada; Didier Hannequin; Mathieu Anheim; Cyril Goizet; Victoria Gonzalez Martinez; Isabelle Le Ber; Sylvie Forlani; Kiyoshi Iwabuchi; Vardiela Meiner; Goekhan Uyanik; Anne Kjersti Erichsen; Imed Feki; Florence Pasquier; Soreya Belarbi; Vitor T Cruz ; Christel Depienne; Jeremy Truchetto; Guillaume Garrigues; Chantal Tallaksen; Christine Tranchant; Masatoyo Nishizawa; Jose Vale; Paula Coutinho ; Filippo M Santorelli; Chokri Mhiri; Alexis Brice; Alexandra Durr; ...More
PUBLISHED: 2008, SOURCE: BRAIN, VOLUME: 131, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 180