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TITLE: Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia  Full Text
AUTHORS: Marie Coutelier; Cyril Goizet; Alexandra Durr; Florence Habarou; Sara Morais; Alexandre Dionne Laporte; Feifei F Tao; Juliette Konop; Marion Stoll; Perrine Charles; Maxime Jacoupy; Raphael Matusiak; Isabel Alonso; Chantal Tallaksen; Mathilde Mairey; Marina Kennerson; Marion Gaussen; Rebecca Schule; Maxime Janin; Fanny Morice Picard; Christelle M Durand; Christel Depienne; Patrick Calvas; Paula Coutinho; Jean Marie Saudubray; Guy Rouleau; Alexis Brice; Garth Nicholson; Frederic Darios; Jose L Loureiro; Stephan Zuchner; Chris Ottolenghi; Fanny Mochel; Giovanni Stevanin; ...More
PUBLISHED: 2015, SOURCE: BRAIN, VOLUME: 138, ISSUE: 8
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
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TITLE: Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia
AUTHORS: Durr, A; Camuzat, AS; Colin, E; Tallaksen, C; Hannequin, D; Coutinho, P ; Fontaine, B; Rossi, A; Gil, R; Rousselle, C; Ruberg, M; Stevanin, G; Brice, A;
PUBLISHED: 2004, SOURCE: ARCHIVES OF NEUROLOGY, VOLUME: 61, ISSUE: 12
INDEXED IN: Scopus WOS