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The first case of the TARDBP p.G294V mutation in a homozygous state: is a single pathogenic allele sufficient to cause ALS?
Corrado, Lucia; Pensato, Viviana; Croce, Roberta; Di Pierro, Alice; Mellone, Simona; Dalla Bella, Eleonora; Salsano, Ettore; Paraboschi, Elvezia Maria; Giordano, Mara; Saraceno, Massimo; Mazzini, Letizia; Gellera, Cinzia; D'Alfonso, Sandra.
Afiliação
  • Corrado L; Department of Health Sciences, Human Genetics Laboratory, UPO University, Novara, Italy.
  • Pensato V; Unit of Genetics of Neurodegenerative and Metabolic Diseases and Motor Neuron Diseases Centre, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Croce R; Department of Health Sciences, Human Genetics Laboratory, UPO University, Novara, Italy.
  • Di Pierro A; Department of Health Sciences, Human Genetics Laboratory, UPO University, Novara, Italy.
  • Mellone S; Department of Health Sciences, Human Genetics Laboratory, UPO University, Novara, Italy.
  • Dalla Bella E; III Neurology Unit and Motor Neuron Diseases Centre, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Salsano E; X Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Paraboschi EM; Department of Biomedical Sciences, Humanitas University, Milan, Italy, and.
  • Giordano M; Department of Health Sciences, Human Genetics Laboratory, UPO University, Novara, Italy.
  • Saraceno M; Department of Neurology, UPO University and Maggiore della Carità Hospital, Corso Mazzini, Novara.
  • Mazzini L; Department of Neurology, UPO University and Maggiore della Carità Hospital, Corso Mazzini, Novara.
  • Gellera C; Unit of Genetics of Neurodegenerative and Metabolic Diseases and Motor Neuron Diseases Centre, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • D'Alfonso S; Department of Health Sciences, Human Genetics Laboratory, UPO University, Novara, Italy.
Amyotroph Lateral Scler Frontotemporal Degener ; 21(3-4): 273-279, 2020 05.
Article em En | MEDLINE | ID: mdl-31852254
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Ligação a DNA / Alelos / Homozigoto / Esclerose Lateral Amiotrófica / Mutação Tipo de estudo: Prognostic_studies Limite: Adult / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Ligação a DNA / Alelos / Homozigoto / Esclerose Lateral Amiotrófica / Mutação Tipo de estudo: Prognostic_studies Limite: Adult / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article