title: A novel Arg147Trp MATR3 missense mutation in a slowly progressive ALS Italian patient.
authors.affiliation: a Department of Internal Medicine , University of Genoa , Genoa , Italy.|b U.O. Medical Genetics of IRCCS AOU S. Martino - IST , Genoa , Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Origone
authors.affiliation: c Department of Neuroscience , Rehabilitation, Ophthalmology, Genetics and Maternal Child Health, University of Genoa , Genoa , Italy.
authors.forename: Simonetta
authors.initials: S
authors.lastname: Verdiani
authors.affiliation: d S.C. Neurologia, Ospedale Santa Corona, Pietra Ligure (SV) , Arenzano (GE) , Italy.
authors.forename: Monica
authors.initials: M
authors.lastname: Bandettini Di Poggio
authors.affiliation: e Servizio di Riabilitazione Malattie Neuromuscolari, Ospedale 'La Colletta' , Arenzano (GE) , Italy.
authors.forename: Riccardo
authors.initials: R
authors.lastname: Zuccarino
authors.affiliation: e Servizio di Riabilitazione Malattie Neuromuscolari, Ospedale 'La Colletta' , Arenzano (GE) , Italy.
authors.forename: Manuela
authors.initials: M
authors.lastname: Vignolo
authors.affiliation: f U.O. Neurology of IRCCS AOU S. Martino - IST, Largo R. Benzi , Genoa , Italy.
authors.forename: Claudia
authors.initials: C
authors.lastname: Caponnetto
authors.affiliation: b U.O. Medical Genetics of IRCCS AOU S. Martino - IST , Genoa , Italy.|c Department of Neuroscience , Rehabilitation, Ophthalmology, Genetics and Maternal Child Health, University of Genoa , Genoa , Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Mandich
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D018450:Disease Progression; D005091:Exons / Q000235:genetics; D006801:Humans; D007558:Italy; D020125:Mutation, Missense; D034521:Nuclear Matrix-Associated Proteins / Q000235:genetics*; D016601:RNA-Binding Proteins / Q000235:genetics*; D044465:White People / Q000235:genetics*
chemical_list: C518587:MATR3 protein, human; D034521:Nuclear Matrix-Associated Proteins; D016601:RNA-Binding Proteins