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Heterozygous CAPN3 missense variants causing autosomal-dominant calpainopathy in seven unrelated families.
González-Mera, L; Ravenscroft, G; Cabrera-Serrano, M; Ermolova, N; Domínguez-González, C; Arteche-López, A; Soltanzadeh, P; Evesson, F; Navas, C; Mavillard, F; Clayton, J; Rodrigo, P; Servián-Morilla, E; Cooper, S T; Waddell, L; Reardon, K; Corbett, A; Hernandez-Laín, A; Sanchez, A; Esteban Perez, J; Paradas-Lopez, C; Rivas-Infante, E; Spencer, M; Laing, N; Olivé, M.
Afiliación
  • González-Mera L; Neuropathology Unit, Department of Pathology, IDIBELL-Hospital Universitari de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain.
  • Ravenscroft G; Neuromuscular Unit, Department of Neurology, IDIBELL-Hospital Universitari de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain.
  • Cabrera-Serrano M; Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, Perth, WA, Australia.
  • Ermolova N; Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, Perth, WA, Australia.
  • Domínguez-González C; Neurology Department, Hospital Universitario Virgen del Rocío, Seville, Spain.
  • Arteche-López A; Instituto de Biomedicina de Sevilla (IBiS), Hospital Universitario Virgen del Rocio/CSIC, Universidad de Sevilla, Sevilla, Spain.
  • Soltanzadeh P; Centro de Investigación Biomédica en Red Sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.
  • Evesson F; Department of Physiology, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.
  • Navas C; Neuromuscular Unit, Department of Neurology, Hospital Universitario 12 de Octubre, Research Institute imas12, Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
  • Mavillard F; Department of Genetic, Hospital Universitario 12 de Octubre, Madrid, Spain.
  • Clayton J; Departments of Neurology and Physiology, David Geffen School of Medicine, UCLA, University of California, Los Angeles, CA, USA.
  • Rodrigo P; Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead, Westmead, NSW, Australia.
  • Servián-Morilla E; The Children's Medical Research Institute, Westmead, NSW, Australia.
  • Cooper ST; Neuropathology Unit, Department of Pathology, IDIBELL-Hospital Universitari de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain.
  • Waddell L; Instituto de Biomedicina de Sevilla (IBiS), Hospital Universitario Virgen del Rocio/CSIC, Universidad de Sevilla, Sevilla, Spain.
  • Reardon K; Centro de Investigación Biomédica en Red Sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.
  • Corbett A; Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, Perth, WA, Australia.
  • Hernandez-Laín A; Neuropathology Unit, Department of Pathology, IDIBELL-Hospital Universitari de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain.
  • Sanchez A; Neuromuscular Unit, Department of Neurology, IDIBELL-Hospital Universitari de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain.
  • Esteban Perez J; Neurology Department, Hospital Universitario Virgen del Rocío, Seville, Spain.
  • Paradas-Lopez C; Instituto de Biomedicina de Sevilla (IBiS), Hospital Universitario Virgen del Rocio/CSIC, Universidad de Sevilla, Sevilla, Spain.
  • Rivas-Infante E; Centro de Investigación Biomédica en Red Sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.
  • Spencer M; Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead, Westmead, NSW, Australia.
  • Laing N; The Children's Medical Research Institute, Westmead, NSW, Australia.
  • Olivé M; Discipline of Child and Adolescent Health, Faculty of Health and Medicine, University of Sydney, Westmead, NSW, Australia.
Neuropathol Appl Neurobiol ; 47(2): 283-296, 2021 02.
Article en En | MEDLINE | ID: mdl-32896923
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Calpaína / Predisposición Genética a la Enfermedad / Distrofia Muscular de Cinturas / Proteínas Musculares Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Neuropathol Appl Neurobiol Año: 2021 Tipo del documento: Article País de afiliación: España Pais de publicación: Reino Unido
Texto completo
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PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Calpaína / Predisposición Genética a la Enfermedad / Distrofia Muscular de Cinturas / Proteínas Musculares Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Neuropathol Appl Neurobiol Año: 2021 Tipo del documento: Article País de afiliación: España Pais de publicación: Reino Unido