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Syndromic parkinsonism and dementia associated with OPA1 missense mutations.
Carelli, Valerio; Musumeci, Olimpia; Caporali, Leonardo; Zanna, Claudia; La Morgia, Chiara; Del Dotto, Valentina; Porcelli, Anna Maria; Rugolo, Michela; Valentino, Maria Lucia; Iommarini, Luisa; Maresca, Alessandra; Barboni, Piero; Carbonelli, Michele; Trombetta, Costantino; Valente, Enza Maria; Patergnani, Simone; Giorgi, Carlotta; Pinton, Paolo; Rizzo, Giovanni; Tonon, Caterina; Lodi, Raffaele; Avoni, Patrizia; Liguori, Rocco; Baruzzi, Agostino; Toscano, Antonio; Zeviani, Massimo.
Afiliação
  • Carelli V; IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy.
  • Musumeci O; Unit of Neurology, Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
  • Caporali L; Department of Neuroscience, University of Messina, Messina, Italy.
  • Zanna C; IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy.
  • La Morgia C; Unit of Neurology, Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
  • Del Dotto V; IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy.
  • Porcelli AM; Unit of Neurology, Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
  • Rugolo M; Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy.
  • Valentino ML; Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy.
  • Iommarini L; Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy.
  • Maresca A; IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy.
  • Barboni P; Unit of Neurology, Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
  • Carbonelli M; Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy.
  • Trombetta C; IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy.
  • Valente EM; Unit of Neurology, Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
  • Patergnani S; Studio Oculistico, D'Azeglio, Bologna, Italy.
  • Giorgi C; Studio Oculistico, D'Azeglio, Bologna, Italy.
  • Pinton P; Ophthalmology Clinic, University of Messina, Messina, Italy.
  • Rizzo G; Mendel Laboratory, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.
  • Tonon C; Department of Morphology, Surgery, and Experimental Medicine, University of Ferrara, Ferrara, Italy.
  • Lodi R; Department of Morphology, Surgery, and Experimental Medicine, University of Ferrara, Ferrara, Italy.
  • Avoni P; Department of Morphology, Surgery, and Experimental Medicine, University of Ferrara, Ferrara, Italy.
  • Liguori R; IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy.
  • Baruzzi A; Unit of Neurology, Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
  • Toscano A; Functional Magnetic Resonance Unit, St Orsola-Malpighi Polyclinic, Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
  • Zeviani M; Functional Magnetic Resonance Unit, St Orsola-Malpighi Polyclinic, Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.
Ann Neurol ; 78(1): 21-38, 2015 Jul.
Article em En | MEDLINE | ID: mdl-25820230

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Oftalmoplegia Externa Progressiva Crônica / Mutação de Sentido Incorreto / Transtornos Parkinsonianos / Demência / GTP Fosfo-Hidrolases Tipo de estudo: Risk_factors_studies Limite: Aged / Female / Humans / Male País/Região como assunto: Europa Idioma: En Revista: Ann Neurol Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Itália

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Oftalmoplegia Externa Progressiva Crônica / Mutação de Sentido Incorreto / Transtornos Parkinsonianos / Demência / GTP Fosfo-Hidrolases Tipo de estudo: Risk_factors_studies Limite: Aged / Female / Humans / Male País/Região como assunto: Europa Idioma: En Revista: Ann Neurol Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Itália