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Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations.
Cao, Michelangelo; Donà, Marta; Valentino, M Lucia; Valentino, Lucia; Semplicini, Claudio; Maresca, Alessandra; Cassina, Matteo; Torraco, Alessandra; Galletta, Eva; Manfioli, Valeria; Sorarù, Gianni; Carelli, Valerio; Stramare, Roberto; Bertini, Enrico; Carrozzo, Rosalba; Salviati, Leonardo; Pegoraro, Elena.
Afiliação
  • Cao M; Department of Neuroscience, University of Padova, Padua, Italy.
  • Donà M; Department of Women's and Children's Health, University of Padova, Padua, Italy.
  • Valentino ML; Unit of Neurology, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.
  • Valentino L; Unit of Neurology, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.
  • Semplicini C; IRCCS Institute of Neurological Sciences, Bellaria Hospital, Bologna, Italy.
  • Maresca A; Department of Neuroscience, University of Padova, Padua, Italy.
  • Cassina M; IRCCS Institute of Neurological Sciences, Bellaria Hospital, Bologna, Italy.
  • Torraco A; Department of Women's and Children's Health, University of Padova, Padua, Italy.
  • Galletta E; Unit for Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Children's Research Hospital "Bambino Gesù", IRCCS, Rome, Italy.
  • Manfioli V; Department of Neuroscience, University of Padova, Padua, Italy.
  • Sorarù G; Department of Neuroscience, University of Padova, Padua, Italy.
  • Carelli V; Department of Neuroscience, University of Padova, Padua, Italy.
  • Stramare R; Unit of Neurology, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.
  • Bertini E; IRCCS Institute of Neurological Sciences, Bellaria Hospital, Bologna, Italy.
  • Carrozzo R; Section of Radiology, Department of Medicine, University of Padova, Padua, Italy.
  • Salviati L; Unit for Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Children's Research Hospital "Bambino Gesù", IRCCS, Rome, Italy.
  • Pegoraro E; Unit for Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Children's Research Hospital "Bambino Gesù", IRCCS, Rome, Italy.
Neurogenetics ; 17(1): 65-70, 2016 01.
Article em En | MEDLINE | ID: mdl-26556812
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome MELAS / Hidroliases Tipo de estudo: Prognostic_studies Limite: Adult / Female / Humans Idioma: En Revista: Neurogenetics Assunto da revista: GENETICA / NEUROLOGIA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Itália
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome MELAS / Hidroliases Tipo de estudo: Prognostic_studies Limite: Adult / Female / Humans Idioma: En Revista: Neurogenetics Assunto da revista: GENETICA / NEUROLOGIA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Itália