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Juvenile-onset dystonia with spasticity in Leigh syndrome caused by a novel NDUFA10 variant.
Yahya, Vidal; Spagnolo, Francesca; Di Maggio, Giovanni; Leopizzi, Emanuela; De Marco, Paolo; Fortunato, Francesco; Comi, Giacomo P; Rini, Augusto; Monfrini, Edoardo; Di Fonzo, Alessio.
Afiliação
  • Yahya V; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
  • Spagnolo F; Neurological Department, A. Perrino's Hospital, Brindisi, Italy.
  • Di Maggio G; Neurological Department, A. Perrino's Hospital, Brindisi, Italy.
  • Leopizzi E; Neurological Department, A. Perrino's Hospital, Brindisi, Italy.
  • De Marco P; Neurological Department, A. Perrino's Hospital, Brindisi, Italy.
  • Fortunato F; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
  • Comi GP; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
  • Rini A; Neurological Department, A. Perrino's Hospital, Brindisi, Italy.
  • Monfrini E; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
  • Di Fonzo A; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy; Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy. Electronic address: alessio.difonzo@policlinico.mi.it.
Parkinsonism Relat Disord ; 104: 85-87, 2022 11.
Article em En | MEDLINE | ID: mdl-36270260

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Leigh / Coreia / Distúrbios Distônicos Limite: Humans Idioma: En Revista: Parkinsonism Relat Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Itália

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Leigh / Coreia / Distúrbios Distônicos Limite: Humans Idioma: En Revista: Parkinsonism Relat Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Itália