title: MFN2 transcripts escaping from nonsense-mediated mRNA decay pathway cause Charcot-Marie-Tooth disease type 2A2.
authors.affiliation: Department of Clinical Neuroscience, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan.
authors.forename: Toshitaka
authors.initials: T
authors.lastname: Kawarai
authors.affiliation: Faculty of Medicine, Tokushima University, Tokushima, Japan.
authors.forename: Kanto
authors.initials: K
authors.lastname: Yamasaki
authors.affiliation: Department of Clinical Neuroscience, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan.
authors.forename: Atsuko
authors.initials: A
authors.lastname: Mori
authors.affiliation: Department of Clinical Neuroscience, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan.
authors.forename: Naoko
authors.initials: N
authors.lastname: Takamatsu
authors.affiliation: Department of Clinical Neuroscience, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan.
authors.forename: Yusuke
authors.initials: Y
authors.lastname: Osaki
authors.affiliation: Department of Clinical Neuroscience, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan.
authors.forename: Chimeglkham
authors.initials: C
authors.lastname: Banzrai
authors.affiliation: Department of Clinical Neuroscience, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan.
authors.forename: Ryosuke
authors.initials: R
authors.lastname: Miyamoto
authors.affiliation: Department of Clinical Neuroscience, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan.
authors.forename: Ryosuke
authors.initials: R
authors.lastname: Oki
authors.affiliation: Laboratorio di Neurogenetica, CERC-IRCCS Santa Lucia, Rome, Italy.
authors.forename: Lucia
authors.initials: L
authors.lastname: Pedace
authors.affiliation: Laboratorio di Neurogenetica, CERC-IRCCS Santa Lucia, Rome, Italy Dipartimento di Scienze Chirurgiche e Biomediche, Università di Perugia, Perugia, Italy.
authors.forename: Antonio
authors.identifier: 0000-0002-2602-3281
authors.initials: A
authors.lastname: Orlacchio
authors.affiliation: Department of Clinical Neuroscience, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan.
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Nodera
authors.affiliation: Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.
authors.forename: Akihiro
authors.initials: A
authors.lastname: Hashiguchi
authors.affiliation: Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.
authors.forename: Yujiro
authors.initials: Y
authors.lastname: Higuchi
authors.affiliation: Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Takashima
authors.affiliation: Itsuki Hospital, Tokushima, Japan.
authors.forename: Yoshihiko
authors.initials: Y
authors.lastname: Nishida
authors.affiliation: Department of Clinical Neuroscience, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan.
authors.forename: Yuishin
authors.initials: Y
authors.lastname: Izumi
authors.affiliation: Department of Clinical Neuroscience, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan.
authors.forename: Ryuji
authors.initials: R
authors.lastname: Kaji
mesh_terms: D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D005260:Female; D020558:GTP Phosphohydrolases / Q000235:genetics*; D006801:Humans; D007564:Japan; D008297:Male; D024101:Mitochondrial Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D059365:Nonsense Mediated mRNA Decay / Q000235:genetics*
chemical_list: D024101:Mitochondrial Proteins; D020558:GTP Phosphohydrolases; C470018:MFN2 protein, human
keywords: NEUROGENETICS