Childhood neurodegeneration associated with a specific UBTF variant: a new case report and review of the literature

Filipa Bastos(Hôpital Orthopédique de la Suisse Romande), Sébastien Lebon(Children's Hospital of Philadelphia), Andrea Superti‐Furga(University of Lausanne), Heidi Fodstad(University of Lausanne), Claudia Poloni(Hôpital de Sion), Eliane Roulet‐Perez(University of Lausanne), Mathieu Quinodoz(University of Leicester), Béryl Royer‐Bertrand(University of Lausanne), Marie‐Claude Addor(University Hospital of Lausanne), Carlo Rivolta(University of Lausanne)

BMC Neurology

January 13, 2020

Cited by 22

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