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'Behr syndrome' with OPA1 compound heterozygote mutations.
Carelli, Valerio; Sabatelli, Mario; Carrozzo, Rosalba; Rizza, Teresa; Schimpf, Simone; Wissinger, Bernd; Zanna, Claudia; Rugolo, Michela; La Morgia, Chiara; Caporali, Leonardo; Carbonelli, Michele; Barboni, Piero; Tonon, Caterina; Lodi, Raffaele; Bertini, Enrico.
Afiliação
  • Carelli V; 1 IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy 2 Neurology Unit, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy valerio.carelli@unibo.it ebertini@tin.it.
  • Sabatelli M; 3 Institute of Neurology, Catholic University, Rome, Italy.
  • Carrozzo R; 4 Laboratory of Molecular Medicine, Research Children's Hospital 'Bambino Gesù', Rome, Italy.
  • Rizza T; 4 Laboratory of Molecular Medicine, Research Children's Hospital 'Bambino Gesù', Rome, Italy.
  • Schimpf S; 5 Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Germany.
  • Wissinger B; 5 Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Germany.
  • Zanna C; 2 Neurology Unit, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy 6 Department of Pharmacy and Biotechnology (FABIT), University of Bologna, Bologna, Italy.
  • Rugolo M; 6 Department of Pharmacy and Biotechnology (FABIT), University of Bologna, Bologna, Italy.
  • La Morgia C; 1 IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy 2 Neurology Unit, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.
  • Caporali L; 1 IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy.
  • Carbonelli M; 7 Studio Oculistico D'Azeglio, Bologna, Italy.
  • Barboni P; 7 Studio Oculistico D'Azeglio, Bologna, Italy.
  • Tonon C; 8 Functional MR Unit, Policlinico S. Orsola-Malpighi, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.
  • Lodi R; 8 Functional MR Unit, Policlinico S. Orsola-Malpighi, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.
  • Bertini E; 4 Laboratory of Molecular Medicine, Research Children's Hospital 'Bambino Gesù', Rome, Italy valerio.carelli@unibo.it ebertini@tin.it.
Brain ; 138(Pt 1): e321, 2015 Jan.
Article em En | MEDLINE | ID: mdl-25146916
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças do Sistema Nervoso Central / Atrofia Óptica Autossômica Dominante / GTP Fosfo-Hidrolases Limite: Female / Humans / Male Idioma: En Revista: Brain Ano de publicação: 2015 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças do Sistema Nervoso Central / Atrofia Óptica Autossômica Dominante / GTP Fosfo-Hidrolases Limite: Female / Humans / Male Idioma: En Revista: Brain Ano de publicação: 2015 Tipo de documento: Article