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An empirical pipeline for personalized diagnosis of Lafora disease mutations.
Brewer, M Kathryn; Machio-Castello, Maria; Viana, Rosa; Wayne, Jeremiah L; Kuchtová, Andrea; Simmons, Zoe R; Sternbach, Sarah; Li, Sheng; García-Gimeno, Maria Adelaida; Serratosa, Jose M; Sanz, Pascual; Vander Kooi, Craig W; Gentry, Matthew S.
Afiliación
  • Brewer MK; Department of Molecular and Cellular Biochemistry, University of Kentucky College of Medicine, Lexington, KY 40536, USA.
  • Machio-Castello M; Lafora Epilepsy Cure Initiative, Epilepsy and Brain Metabolism Center, and Center for Structural Biology, University of Kentucky College of Medicine, Lexington, KY 40536, USA.
  • Viana R; Neurology Laboratory and Epilepsy Unit, Department of Neurology, IIS Fundación Jiménez Díaz, UAM and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid 28040, Spain.
  • Wayne JL; Institute of Biomedicine of Valencia, CSIC and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Valencia 46010, Spain.
  • Kuchtová A; Department of Molecular and Cellular Biochemistry, University of Kentucky College of Medicine, Lexington, KY 40536, USA.
  • Simmons ZR; Department of Molecular and Cellular Biochemistry, University of Kentucky College of Medicine, Lexington, KY 40536, USA.
  • Sternbach S; Department of Molecular and Cellular Biochemistry, University of Kentucky College of Medicine, Lexington, KY 40536, USA.
  • Li S; Department of Molecular and Cellular Biochemistry, University of Kentucky College of Medicine, Lexington, KY 40536, USA.
  • García-Gimeno MA; Department of Medicine, University of California at San Diego, La Jolla, CA 92093, USA.
  • Serratosa JM; Department of Biotechnology, Escuela Técnica Superior de Ingeniería Agronómica y del Medio Natural (ETSIAMN), Polytechnic University of Valencia, 46022 Valencia, Spain.
  • Sanz P; Lafora Epilepsy Cure Initiative, Epilepsy and Brain Metabolism Center, and Center for Structural Biology, University of Kentucky College of Medicine, Lexington, KY 40536, USA.
  • Vander Kooi CW; Neurology Laboratory and Epilepsy Unit, Department of Neurology, IIS Fundación Jiménez Díaz, UAM and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid 28040, Spain.
  • Gentry MS; Lafora Epilepsy Cure Initiative, Epilepsy and Brain Metabolism Center, and Center for Structural Biology, University of Kentucky College of Medicine, Lexington, KY 40536, USA.
iScience ; 24(11): 103276, 2021 Nov 19.
Article en En | MEDLINE | ID: mdl-34755096
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Diagnostic_studies Idioma: En Revista: IScience Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Diagnostic_studies Idioma: En Revista: IScience Año: 2021 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Estados Unidos