REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction.

Goizet, Cyril; Depienne, Christel; Benard, Giovanni; Boukhris, Amir; Mundwiller, Emeline; Solé, Guilhem; Coupry, Isabelle; Pilliod, Julie; Martin-Négrier, Marie-Laure; Fedirko, Estelle; Forlani, Sylvie; Cazeneuve, Cécile; Hannequin, Didier; Charles, Perrine; Feki, Imed; Pinel, Jean-François; Ouvrard-Hernandez, Anne-Marie; Lyonnet, Stanislas; Ollagnon-Roman, Elisabeth; Yaouanq, Jacqueline; Toutain, Annick; Dussert, Christelle; Fontaine, Bertrand; Leguern, Eric; Lacombe, Didier; Durr, Alexandra; Rossignol, Rodrigue; Brice, Alexis; Stevanin, Giovanni.
Hum Mutat; 32(10): 1118-27, 2011 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-21618648