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TITLE: DNA Repair Pathways Underlie a Common Genetic Mechanism Modulating Onset in Polyglutamine Diseases. DNA Repair Pathways Modify polyQ Disease Onset  Full Text
AUTHORS: Conceicao Bettencourt; Davina Hensman Moss; Michael Flower; Sarah Wiethoff; Alexis Brice; Cyril Goizet; Giovanni Stevanin; Georgios Koutsis; Georgia Karadima; Marios Panas; Petra Yescas Gomes; Lizbeth E Esmeralda Garcia Velazquez; Maria E Elisa Alonso Vilatela; Manuela Lima; Mafalda Raposo; Bryan Traynor; Mary Sweeney; Nicholas Wood; Paola Giunti; Alexandra Durr; Peter Holmans; Henry Houlden; Sarah J Tabrizi; Lesley Jones; ...More
PUBLISHED: 2016, SOURCE: ANNALS OF NEUROLOGY, VOLUME: 79, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef
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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: CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5  Full Text
AUTHORS: Boukhris, A; Goizet, C; Durr, A; Tsaousidou, M; Guyant Marechal, L; Guimaraes, J; Chazouilleres, O; Chinnery, P; Coutinho, P; Crosby, A; Mhiri, C; Brice, A; Stevanin, G;
PUBLISHED: 2009, SOURCE: 13th Congress of the European-Federation-of-Neurological-Societies in EUROPEAN JOURNAL OF NEUROLOGY, VOLUME: 16
INDEXED IN: WOS
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TITLE: Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients  Full Text
AUTHORS: Le Ber, I; Bouslam, N; Rivaud Pechoux, S; Guimaraes, J; Benomar, A; Chamayou, C; Goizet, C; Moreira, MC; Klur, S; Yahyaoui, M; Agid, Y; Koenig, M; Stevanin, G; Brice, A; Durr, A;
PUBLISHED: 2004, SOURCE: BRAIN, VOLUME: 127, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef