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Description of the first Spanish case of Gerstmann-Sträussler-Scheinker disease with A117V variant: clinical, histopathological and biochemical characterization.
Eraña, Hasier; San Millán, Beatriz; Díaz-Domínguez, Carlos M; Charco, Jorge M; Rodríguez, Rosa; Viéitez, Irene; Pereda, Arrate; Yañez, Rosa; Geijo, Mariví; Navarro, Carmen; Perez de Nanclares, Guiomar; Teijeira, Susana; Castilla, Joaquín.
Afiliação
  • Eraña H; Prion Research Lab, Basque Research and Technology Alliance (BRTA), Center for Cooperative Research in Biosciences (CIC BioGUNE), Derio, Spain.
  • San Millán B; Atlas Molecular Pharma S.L., Derio, Spain.
  • Díaz-Domínguez CM; Grupo de Enfermedades Raras y Medicina Pediátrica, Instituto de Investigación Sanitaria Galicia Sur (IISGS), Vigo, Spain.
  • Charco JM; Prion Research Lab, Basque Research and Technology Alliance (BRTA), Center for Cooperative Research in Biosciences (CIC BioGUNE), Derio, Spain.
  • Rodríguez R; Prion Research Lab, Basque Research and Technology Alliance (BRTA), Center for Cooperative Research in Biosciences (CIC BioGUNE), Derio, Spain.
  • Viéitez I; Atlas Molecular Pharma S.L., Derio, Spain.
  • Pereda A; Servicio de Neurología, Complejo Hospitalario de Ourense, Ourense, Spain.
  • Yañez R; Grupo de Enfermedades Raras y Medicina Pediátrica, Instituto de Investigación Sanitaria Galicia Sur (IISGS), Vigo, Spain.
  • Geijo M; Molecular (Epi)Genetics Laboratory, Araba University Hospital, Bioaraba Health Research Institute, Vitoria-Gasteiz, Spain.
  • Navarro C; Servicio de Neurología, Complejo Hospitalario de Ourense, Ourense, Spain.
  • Perez de Nanclares G; Animal Health Department, NEIKER-Instituto Vasco de Investigación y Desarrollo Agrario, Basque Research and Technology Alliance (BRTA), Derio, Spain.
  • Teijeira S; Grupo de Enfermedades Raras y Medicina Pediátrica, Instituto de Investigación Sanitaria Galicia Sur (IISGS), Vigo, Spain.
  • Castilla J; Molecular (Epi)Genetics Laboratory, Araba University Hospital, Bioaraba Health Research Institute, Vitoria-Gasteiz, Spain.
J Neurol ; 269(8): 4253-4263, 2022 Aug.
Article em En | MEDLINE | ID: mdl-35294616
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Príons / Doença de Gerstmann-Straussler-Scheinker Limite: Humans Idioma: En Revista: J Neurol Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Espanha
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Príons / Doença de Gerstmann-Straussler-Scheinker Limite: Humans Idioma: En Revista: J Neurol Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Espanha