title: 'Behr syndrome' with OPA1 compound heterozygote mutations.
authors.affiliation: 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.
authors.forename: Valerio
authors.initials: V
authors.lastname: Carelli
authors.affiliation: 3 Institute of Neurology, Catholic University, Rome, Italy.
authors.forename: Mario
authors.initials: M
authors.lastname: Sabatelli
authors.affiliation: 4 Laboratory of Molecular Medicine, Research Children's Hospital 'Bambino Gesù', Rome, Italy.
authors.forename: Rosalba
authors.initials: R
authors.lastname: Carrozzo
authors.affiliation: 4 Laboratory of Molecular Medicine, Research Children's Hospital 'Bambino Gesù', Rome, Italy.
authors.forename: Teresa
authors.initials: T
authors.lastname: Rizza
authors.affiliation: 5 Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Germany.
authors.forename: Simone
authors.initials: S
authors.lastname: Schimpf
authors.affiliation: 5 Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Germany.
authors.forename: Bernd
authors.initials: B
authors.lastname: Wissinger
authors.affiliation: 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.
authors.forename: Claudia
authors.initials: C
authors.lastname: Zanna
authors.affiliation: 6 Department of Pharmacy and Biotechnology (FABIT), University of Bologna, Bologna, Italy.
authors.forename: Michela
authors.initials: M
authors.lastname: Rugolo
authors.affiliation: 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.
authors.forename: Chiara
authors.initials: C
authors.lastname: La Morgia
authors.affiliation: 1 IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy.
authors.forename: Leonardo
authors.initials: L
authors.lastname: Caporali
authors.affiliation: 7 Studio Oculistico D'Azeglio, Bologna, Italy.
authors.forename: Michele
authors.initials: M
authors.lastname: Carbonelli
authors.affiliation: 7 Studio Oculistico D'Azeglio, Bologna, Italy.
authors.forename: Piero
authors.initials: P
authors.lastname: Barboni
authors.affiliation: 8 Functional MR Unit, Policlinico S. Orsola-Malpighi, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.
authors.forename: Caterina
authors.initials: C
authors.lastname: Tonon
authors.affiliation: 8 Functional MR Unit, Policlinico S. Orsola-Malpighi, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.
authors.forename: Raffaele
authors.initials: R
authors.lastname: Lodi
authors.affiliation: 4 Laboratory of Molecular Medicine, Research Children's Hospital 'Bambino Gesù', Rome, Italy valerio.carelli@unibo.it ebertini@tin.it.
authors.forename: Enrico
authors.initials: E
authors.lastname: Bertini
mesh_terms: D002493:Central Nervous System Diseases / Q000150:complications*; D005260:Female; D020558:GTP Phosphohydrolases / Q000235:genetics*; D006801:Humans; D008297:Male; D029241:Optic Atrophy, Autosomal Dominant / Q000150:complications*
chemical_list: D020558:GTP Phosphohydrolases