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Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2
Blasco-Pérez, Laura; Costa-Roger, Mar; Leno-Colorado, Jordi; Bernal, Sara; Alias, Laura; Codina-Solà, Marta; Martínez-Cruz, Desirée; Castiglioni, Claudia; Bertini, Enrico; Travaglini, Lorena; Millán, José M; Aller, Elena; Sotoca, Javier; Juntas, Raúl; Hoei-Hansen, Christina Engel; Moreno-Escribano, Antonio; Guillén-Navarro, Encarna; Costa-Comellas, Laura; Munell, Francina; Boronat, Susana; Rojas-García, Ricardo; Povedano, Mónica; Cuscó, Ivon; Tizzano, Eduardo F.
Afiliação
  • Blasco-Pérez L; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Universitat Autònoma de Barcelona (UAB), 08035 Barcelona, Spain.
  • Costa-Roger M; Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona (UAB), 08035 Barcelona, Spain.
  • Leno-Colorado J; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Universitat Autònoma de Barcelona (UAB), 08035 Barcelona, Spain.
  • Bernal S; Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona (UAB), 08035 Barcelona, Spain.
  • Alias L; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Universitat Autònoma de Barcelona (UAB), 08035 Barcelona, Spain.
  • Codina-Solà M; Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona (UAB), 08035 Barcelona, Spain.
  • Martínez-Cruz D; Genetics Department and Sant Pau Biomedical Research Institute, Hospital de la Santa Creu i Sant Pau, 08025 Barcelona, Spain.
  • Castiglioni C; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain.
  • Bertini E; Genetics Department and Sant Pau Biomedical Research Institute, Hospital de la Santa Creu i Sant Pau, 08025 Barcelona, Spain.
  • Travaglini L; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain.
  • Millán JM; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Universitat Autònoma de Barcelona (UAB), 08035 Barcelona, Spain.
  • Aller E; Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona (UAB), 08035 Barcelona, Spain.
  • Sotoca J; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Universitat Autònoma de Barcelona (UAB), 08035 Barcelona, Spain.
  • Juntas R; Department of Clinical and Molecular Genetics, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona (UAB), 08035 Barcelona, Spain.
  • Hoei-Hansen CE; Departamento de Neurología Pediátrica, Clínica Las Condes, 7591047 Santiago de Chile, Chile.
  • Moreno-Escribano A; Unit of Neuromuscular and Neurodegenerative Disease, Ospedale Pediatrico Bambino Gesu, IRCCS, 00165 Rome, Italy.
  • Guillén-Navarro E; Unit of Neuromuscular and Neurodegenerative Disease, Ospedale Pediatrico Bambino Gesu, IRCCS, 00165 Rome, Italy.
  • Costa-Comellas L; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain.
  • Munell F; Unidad de Genética, Hospital La Fe and IIS La Fe, 46026 Valencia, Spain.
  • Boronat S; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain.
  • Rojas-García R; Unidad de Genética, Hospital La Fe and IIS La Fe, 46026 Valencia, Spain.
  • Povedano M; Neuromuscular Diseases Unit, Neurology Department, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.
  • Cuscó I; Neuromuscular Diseases Unit, Neurology Department, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.
  • Tizzano EF; Department of Paediatrics, Copenhagen University Hospital, 2100 Copenhagen, Denmark.
Int J Mol Sci ; 23(15)2022 07 27.
Article em En | MEDLINE | ID: mdl-35955418
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Atrofia Muscular Espinal Limite: Humans Idioma: En Revista: Int J Mol Sci Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Espanha
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Atrofia Muscular Espinal Limite: Humans Idioma: En Revista: Int J Mol Sci Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Espanha