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Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45-55 Deletion.
Poyatos-García, Javier; Martí, Pilar; Liquori, Alessandro; Muelas, Nuria; Pitarch, Inmaculada; Martinez-Dolz, Luis; Rodríguez, Benjamin; Gonzalez-Quereda, Lidia; Damiá, Maria; Aller, Elena; Selva-Gimenez, Marta; Vilchez, Roger; Diaz-Manera, Jordi; Alonso-Pérez, Jorge; Barcena, José Eulalio; Jauregui, Amaia; Gámez, Josep; Aladrén, Jesus Angel; Fernández, Ariadna; Montolio, Marisol; Azorin, Inmaculada; Hervas, David; Casasús, Ana; Nieto, Marisa; Gallano, Pia; Sevilla, Teresa; Vilchez, Juan Jesus.
Afiliação
  • Poyatos-García J; Neuromuscular and Ataxias Research Group, Health Research Institute Hospital La Fe (IIS La Fe), Valencia, Spain.
  • Martí P; Centre for Biomedical Network Research on Rare Diseases (CIBERER); U763, CB06/05/0091, Valencia, Spain.
  • Liquori A; Neuromuscular and Ataxias Research Group, Health Research Institute Hospital La Fe (IIS La Fe), Valencia, Spain.
  • Muelas N; Centre for Biomedical Network Research on Rare Diseases (CIBERER); U763, CB06/05/0091, Valencia, Spain.
  • Pitarch I; Hematology Research Group, Health Research Institute Hospital La Fe (IIS La Fe), Valencia, Spain.
  • Martinez-Dolz L; Centre for Biomedical Network Research on Cancer (CIBERONC); CB16/12/00284, Madrid, Spain.
  • Rodríguez B; Neuromuscular and Ataxias Research Group, Health Research Institute Hospital La Fe (IIS La Fe), Valencia, Spain.
  • Gonzalez-Quereda L; Centre for Biomedical Network Research on Rare Diseases (CIBERER); U763, CB06/05/0091, Valencia, Spain.
  • Damiá M; Neuromuscular Referral Center, European Reference Network on Rare Neuromuscular Diseases (ERN EURO-NMD), Universitary and Polytechnic La Fe Hospital, Valencia, Spain.
  • Aller E; Neuromuscular Referral Center, European Reference Network on Rare Neuromuscular Diseases (ERN EURO-NMD), Universitary and Polytechnic La Fe Hospital, Valencia, Spain.
  • Selva-Gimenez M; Neuropediatric Department, Universitary and Polytechnic La Fe Hospital, Valencia, Spain.
  • Vilchez R; Cardiology Department, University and Polytechnic La Fe Hospital, IIS La Fe, Valencia, Spain.
  • Diaz-Manera J; Centre for Biomedical Network Research on Cardiovascular Diseases (CIBERCV), Valencia, Spain.
  • Alonso-Pérez J; Genetics Department, IIB Sant Pau, Hospital of Sant Pau, Barcelona, Spain.
  • Barcena JE; Centre for Biomedical Network Research on Rare Diseases (CIBERER), U705, U745, CB06/07/0011, Barcelona, Spain.
  • Jauregui A; Genetics Department, IIB Sant Pau, Hospital of Sant Pau, Barcelona, Spain.
  • Gámez J; Centre for Biomedical Network Research on Rare Diseases (CIBERER), U705, U745, CB06/07/0011, Barcelona, Spain.
  • Aladrén JA; Neuromuscular Referral Center, European Reference Network on Rare Neuromuscular Diseases (ERN EURO-NMD), Universitary and Polytechnic La Fe Hospital, Valencia, Spain.
  • Fernández A; Neuropediatric Department, Universitary and Polytechnic La Fe Hospital, Valencia, Spain.
  • Montolio M; Genetics Unit, Universitary and Polytechnic La Fe Hospital, Valencia, Spain.
  • Azorin I; Neuromuscular and Ataxias Research Group, Health Research Institute Hospital La Fe (IIS La Fe), Valencia, Spain.
  • Hervas D; Centre for Biomedical Network Research on Rare Diseases (CIBERER); U763, CB06/05/0091, Valencia, Spain.
  • Casasús A; Neuromuscular and Ataxias Research Group, Health Research Institute Hospital La Fe (IIS La Fe), Valencia, Spain.
  • Nieto M; Centre for Biomedical Network Research on Rare Diseases (CIBERER); U763, CB06/05/0091, Valencia, Spain.
  • Gallano P; Neuromuscular Disorders Unit, Neurology Department, European Reference Network on Rare Neuromuscular Diseases (ERN EURO-NMD), Hospital of Sant Pau, Barcelona, Spain.
  • Sevilla T; Autonomous University of Barcelona, Barcelona, Spain.
  • Vilchez JJ; Centre for Biomedical Network Research on Rare Diseases (CIBERER), U762, CB06/05/0030, Barcelona, Spain.
Ann Neurol ; 92(5): 793-806, 2022 11.
Article em En | MEDLINE | ID: mdl-35897138
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distrofia Muscular de Duchenne / RNA Longo não Codificante Tipo de estudo: Clinical_trials / Etiology_studies / Incidence_studies / Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Ann Neurol Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Espanha
Texto completo
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XML
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distrofia Muscular de Duchenne / RNA Longo não Codificante Tipo de estudo: Clinical_trials / Etiology_studies / Incidence_studies / Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Ann Neurol Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Espanha