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Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage.
Martins, Sandra; Yahia, Ashraf; Costa, Inês P D; Siddig, Hassab E; Abubaker, Rayan; Koko, Mahmoud; Corral-Juan, Marc; Matilla-Dueñas, Antoni; Brice, Alexis; Durr, Alexandra; Leguern, Eric; Ranum, Laura P W; Amorim, António; Elsayed, Liena E O; Stevanin, Giovanni; Sequeiros, Jorge.
Afiliación
  • Martins S; i3S-Instituto de Investigação e Inovação em Saúde, University of Porto, Porto, Portugal.
  • Yahia A; IPATIMUP-Institute of Molecular Pathology and Immunology, University of Porto, Porto, Portugal.
  • Costa IPD; Faculty of Medicine, University of Khartoum, Khartoum, Sudan.
  • Siddig HE; Sorbonne University, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France.
  • Abubaker R; Center of Neurodevelopmental Disorders (KIND), Centre for Psychiatry Research, Department of Women's and Children's Health, Karolinska Institutet and Stockholm Health Care Services, Stockholm, Sweden.
  • Koko M; i3S-Instituto de Investigação e Inovação em Saúde, University of Porto, Porto, Portugal.
  • Corral-Juan M; IPATIMUP-Institute of Molecular Pathology and Immunology, University of Porto, Porto, Portugal.
  • Matilla-Dueñas A; Division of Neurology, Sudan Medical Council, Khartoum, Sudan.
  • Brice A; Sudanese Neurogenetics Research Group, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.
  • Durr A; Sudanese Neurogenetics Research Group, Faculty of Medicine, University of Khartoum, Khartoum, Sudan.
  • Leguern E; Functional and Translational Neurogenetics Unit, Department of Neuroscience, Health Sciences Research Institute Germans Trias I Pujol (IGTP)-Universitat Autònoma de Barcelona, Can Ruti Campus, Badalona, Barcelona, Spain.
  • Ranum LPW; Functional and Translational Neurogenetics Unit, Department of Neuroscience, Health Sciences Research Institute Germans Trias I Pujol (IGTP)-Universitat Autònoma de Barcelona, Can Ruti Campus, Badalona, Barcelona, Spain.
  • Amorim A; Sorbonne University, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France.
  • Elsayed LEO; Sorbonne University, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France.
  • Stevanin G; Sorbonne University, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France.
  • Sequeiros J; Genetics Department, APHP, Pitié-Salpêtrière Hospital, Paris, France.
Hum Genet ; 142(12): 1747-1754, 2023 Dec.
Article en En | MEDLINE | ID: mdl-37957369

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad de Machado-Joseph Límite: Adult / Humans / Male País/Región como asunto: Africa / Europa Idioma: En Revista: Hum Genet Año: 2023 Tipo del documento: Article País de afiliación: Portugal Pais de publicación: Alemania

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad de Machado-Joseph Límite: Adult / Humans / Male País/Región como asunto: Africa / Europa Idioma: En Revista: Hum Genet Año: 2023 Tipo del documento: Article País de afiliación: Portugal Pais de publicación: Alemania