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Homozygous R136S mutation in PRNP gene causes inherited early onset prion disease.
Ximelis, Teresa; Marín-Moreno, Alba; Espinosa, Juan Carlos; Eraña, Hasier; Charco, Jorge M; Hernández, Isabel; Riveira, Carmen; Alcolea, Daniel; González-Roca, Eva; Aldecoa, Iban; Molina-Porcel, Laura; Parchi, Piero; Rossi, Marcello; Castilla, Joaquín; Ruiz-García, Raquel; Gelpi, Ellen; Torres, Juan María; Sánchez-Valle, Raquel.
Afiliación
  • Ximelis T; Neurological Tissue Bank of the Biobanc-Hospital Clinic-Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), 08036, Barcelona, Spain.
  • Marín-Moreno A; Centro de Investigación en Sanidad Animal (CISA-INIA-CSIC), 28130 Valdeolmos, Madrid, Spain.
  • Espinosa JC; Centro de Investigación en Sanidad Animal (CISA-INIA-CSIC), 28130 Valdeolmos, Madrid, Spain.
  • Eraña H; Center for Cooperative Research in Biosciences (CIC bioGUNE), Basque Research and Technology Alliance (BRTA), Bizkaia Technology Park, 48160, Derio, Spain.
  • Charco JM; Center for Cooperative Research in Biosciences (CIC bioGUNE), Basque Research and Technology Alliance (BRTA), Bizkaia Technology Park, 48160, Derio, Spain.
  • Hernández I; Fundació ACE, Barcelona Alzheimer Treatment and Research Center, 08028, Barcelona, Spain.
  • Riveira C; Neurology Service, Hospital de León, 24071, León, Spain.
  • Alcolea D; Memory Unit, Hospital de la Santa Creu i Sant Pau, 08041, Barcelona, Spain.
  • González-Roca E; Immunology department, Biomedical Diagnostic Center, Hospital Clínic de Barcelona, 08036, Barcelona, Spain.
  • Aldecoa I; Neurological Tissue Bank of the Biobanc-Hospital Clinic-Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), 08036, Barcelona, Spain.
  • Molina-Porcel L; Pathology Department, Biomedical Diagnostic Center, Hospital Clínic de Barcelona, University of Barcelona, 08036, Barcelona, Spain.
  • Parchi P; Neurological Tissue Bank of the Biobanc-Hospital Clinic-Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), 08036, Barcelona, Spain.
  • Rossi M; Alzheimer's Disease and Other Cognitive Disorders Unit, Neurology Service, Hospital Clínic de Barcelona, IDIBAPS, University of Barcelona, Villarroel, 170 08036, Barcelona, Spain.
  • Castilla J; Department of Experimental, Diagnostic and Specialty Medicine (DIMES), University of Bologna, 40138, Bologna, Italy.
  • Ruiz-García R; IRCCS, Istituto delle Scienze Neurologiche di Bologna, 40139, Bologna, Italy.
  • Gelpi E; IRCCS, Istituto delle Scienze Neurologiche di Bologna, 40139, Bologna, Italy.
  • Torres JM; Center for Cooperative Research in Biosciences (CIC bioGUNE), Basque Research and Technology Alliance (BRTA), Bizkaia Technology Park, 48160, Derio, Spain.
  • Sánchez-Valle R; IKERBasque Basque Foundation for Science, 48009, Bilbao, Spain.
Alzheimers Res Ther ; 13(1): 176, 2021 10 18.
Article en En | MEDLINE | ID: mdl-34663460
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Priones / Enfermedad de Gerstmann-Straussler-Scheinker / Enfermedades por Prión Tipo de estudio: Clinical_trials / Etiology_studies Límite: Animals / Female / Humans Idioma: En Revista: Alzheimers Res Ther Año: 2021 Tipo del documento: Article País de afiliación: España Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Priones / Enfermedad de Gerstmann-Straussler-Scheinker / Enfermedades por Prión Tipo de estudio: Clinical_trials / Etiology_studies Límite: Animals / Female / Humans Idioma: En Revista: Alzheimers Res Ther Año: 2021 Tipo del documento: Article País de afiliación: España Pais de publicación: Reino Unido