Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum

Giovanni Stévanin(Inserm), Filippo M. Santorelli(Istituti di Ricovero e Cura a Carattere Scientifico), Hamid Azzedine(Pitié-Salpêtrière Hospital), Paula Coutinho(Universidade do Porto), Jacques Chomilier(Institut de minéralogie, de physique des matériaux et de cosmochimie), Paola S. Denora(Istituti di Ricovero e Cura a Carattere Scientifico), Elodie Martin(Pitié-Salpêtrière Hospital), Anne Marie Ouvrard-Hernandez(Centre Hospitalier Universitaire de Grenoble), Alessandra Tessa(Boston Children's Hospital), Naïma Bouslam(Pitié-Salpêtrière Hospital), Alexander Lossos(Hadassah Medical Center), Perrine Charles(Assistance Publique – Hôpitaux de Paris), José Leal Loureiro(Universidade do Porto), Nizar Elleuch(Sorbonne Université), Christian Confavreux(Hôpital Pierre Wertheimer), Vítor Tedim Cruz(Hospital de São Sebastião), Merle Ruberg(Pitié-Salpêtrière Hospital), Éric Leguern(Inserm), Djamel Grid(Genethon (France)), Mériem Tazir(Hôpital Mustapha Pacha), Bertrand Fontaine(Sorbonne Université), Alessandro Filla(Federico II University Hospital), Enrico Bertini(Istituti di Ricovero e Cura a Carattere Scientifico), Alexandra Dürr(Assistance Publique – Hôpitaux de Paris), Alexis Brice(Inserm)
Nature Genetics
February 18, 2007
Cited by 332

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