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A mother and her daughter carrying a pathogenic expansion of the HTT gene with a phenotype encompassing motor neuron disease and Huntington's disease.
Canosa, Antonio; Cabras, Sara; Di Pede, Francesca; Manera, Umberto; Vasta, Rosario; Moglia, Cristina; Calvo, Andrea; Gallone, Salvatore; Chiò, Adriano.
Afiliação
  • Canosa A; ALS Centre, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.
  • Cabras S; SC Neurologia 1U, Azienda Ospedaliero-Universitaria Città della Salute e della Scienza di Torino, Turin, Italy.
  • Di Pede F; Institute of Cognitive Sciences and Technologies, C.N.R, Rome, Italy.
  • Manera U; ALS Centre, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.
  • Vasta R; University of Camerino, Centre for Neuroscience, Camerino, Italy.
  • Moglia C; ALS Centre, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.
  • Calvo A; ALS Centre, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.
  • Gallone S; SC Neurologia 1U, Azienda Ospedaliero-Universitaria Città della Salute e della Scienza di Torino, Turin, Italy.
  • Chiò A; ALS Centre, 'Rita Levi Montalcini' Department of Neuroscience, University of Turin, Turin, Italy.
Clin Genet ; 105(4): 430-433, 2024 04.
Article em En | MEDLINE | ID: mdl-38092667

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença dos Neurônios Motores / Doença de Huntington / Demência Frontotemporal / Esclerose Lateral Amiotrófica Limite: Female / Humans Idioma: En Ano de publicação: 2024 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença dos Neurônios Motores / Doença de Huntington / Demência Frontotemporal / Esclerose Lateral Amiotrófica Limite: Female / Humans Idioma: En Ano de publicação: 2024 Tipo de documento: Article