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Metabolic, fibrotic and splicing pathways are all altered in Emery-Dreifuss muscular dystrophy spectrum patients to differing degrees.
de Las Heras, Jose I; Todorow, Vanessa; Krecinic-Balic, Lejla; Hintze, Stefan; Czapiewski, Rafal; Webb, Shaun; Schoser, Benedikt; Meinke, Peter; Schirmer, Eric C.
Afiliación
  • de Las Heras JI; Institute of Cell Biology, University of Edinburgh, Edinburgh, UK.
  • Todorow V; Friedrich-Baur-Institute, Department of Neurology, LMU Clinic, Ludwig-Maximillians-University, Munich, Germany.
  • Krecinic-Balic L; Friedrich-Baur-Institute, Department of Neurology, LMU Clinic, Ludwig-Maximillians-University, Munich, Germany.
  • Hintze S; Friedrich-Baur-Institute, Department of Neurology, LMU Clinic, Ludwig-Maximillians-University, Munich, Germany.
  • Czapiewski R; Institute of Cell Biology, University of Edinburgh, Edinburgh, UK.
  • Webb S; Wellcome Centre for Cell Biology, University of Edinburgh, Edinburgh, UK.
  • Schoser B; Friedrich-Baur-Institute, Department of Neurology, LMU Clinic, Ludwig-Maximillians-University, Munich, Germany.
  • Meinke P; Friedrich-Baur-Institute, Department of Neurology, LMU Clinic, Ludwig-Maximillians-University, Munich, Germany.
  • Schirmer EC; Institute of Cell Biology, University of Edinburgh, Edinburgh, UK.
Hum Mol Genet ; 32(6): 1010-1031, 2023 03 06.
Article en En | MEDLINE | ID: mdl-36282542
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Distrofia Muscular de Emery-Dreifuss Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Distrofia Muscular de Emery-Dreifuss Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Reino Unido