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Hereditary motor sensory neuropathy with proximal involvement (HMSN-P) associated with TFG p.Pro285Leu variant in an Italian family with a motor neuron disease-like clinical picture.
Cabras, Sara; Di Pede, Francesca; Canosa, Antonio; Grassano, Maurizio; Mongini, Tiziana Enrica; Gadaleta, Giulio; Calvo, Andrea; Chiò, Adriano; Moglia, Cristina; Gallone, Salvatore.
Afiliação
  • Cabras S; ALS Center, "Rita Levi Montalcini" Department of Neuroscience, University of Turin, Turin, Italy.
  • Di Pede F; School of Advanced Studies, Center for Neuroscience, University of Camerino, Camerino, Italy.
  • Canosa A; ALS Center, "Rita Levi Montalcini" Department of Neuroscience, University of Turin, Turin, Italy.
  • Grassano M; ALS Center, "Rita Levi Montalcini" Department of Neuroscience, University of Turin, Turin, Italy.
  • Mongini TE; S.C. Neurologia 1U, Azienda Ospedaliero Universitaria Città della Salute e della Scienza di Torino, Turin, Italy.
  • Gadaleta G; Institute of Cognitive Sciences and Technologies, National Council of Research, Rome, Italy.
  • Calvo A; ALS Center, "Rita Levi Montalcini" Department of Neuroscience, University of Turin, Turin, Italy.
  • Chiò A; S.C. Neurologia 1U, Azienda Ospedaliero Universitaria Città della Salute e della Scienza di Torino, Turin, Italy.
  • Moglia C; Neuromuscular Center, "Rita Levi Montalcini" Department of Neuroscience, University of Turin, Turin, Italy.
  • Gallone S; ERN Euro-NMD, Azienda Ospedaliero Universitaria Città della Salute e della Scienza di Torino, Turin, Italy.
Muscle Nerve ; 69(6): 730-732, 2024 Jun.
Article em En | MEDLINE | ID: mdl-38533668
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Neuropatia Hereditária Motora e Sensorial / Doença dos Neurônios Motores Idioma: En Ano de publicação: 2024 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Neuropatia Hereditária Motora e Sensorial / Doença dos Neurônios Motores Idioma: En Ano de publicação: 2024 Tipo de documento: Article