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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.

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作者单位: i3S-Instituto de Investigação e Inovação em Saúde, University of Porto, Porto, Portugal. [1] IPATIMUP-Institute of Molecular Pathology and Immunology, University of Porto, Porto, Portugal. [2] Faculty of Medicine, University of Khartoum, Khartoum, Sudan. [3] Sorbonne University, Paris Brain Institute - ICM, Inserm, CNRS, AP-HP, Paris, France. [4] 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. [5] Division of Neurology, Sudan Medical Council, Khartoum, Sudan. [6] Sudanese Neurogenetics Research Group, Faculty of Medicine, University of Khartoum, Khartoum, Sudan. [7] 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. [8] Genetics Department, APHP, Pitié-Salpêtrière Hospital, Paris, France. [9] Center for NeuroGenetics, College of Medicine, University of Florida, Gainesville, FL, USA. [10] Department of Biology, Faculty of Sciences, University of Porto, Porto, Portugal. [11] Department of Basic Sciences, College of Medicine, Princess Nourah bint Abdulrahman University, Riyadh, Saudi Arabia. [12] Univ. Bordeaux, CNRS-Centre National de la Recherche Scientifique, INCIA-Institut de Neurosciences Cognitives et Intégratives d'Aquitaine, UMR 5287, Bordeaux, France. [13] EPHE-École Pratique des Hautes Études, CNRS-Centre National de la Recherche Scientifique, INCIA-Institut de Neurosciences Cognitives et Intégratives d'Aquitaine, UMR 5287, Paris, France. [14] i3S-Instituto de Investigação e Inovação em Saúde, University of Porto, Porto, Portugal. jorge.sequeiros@ibmc.up.pt. [15] UnIGENe and CGPP-Centro de Genética Preditiva e Preventiva, IBMC-Institute for Molecular and Cell Biology, University of Porto, Porto, Portugal. jorge.sequeiros@ibmc.up.pt. [16] ICBAS School of Medicine and Biomedical Sciences, University of Porto, Porto, Portugal. jorge.sequeiros@ibmc.up.pt. [17]
DOI 10.1007/s00439-023-02611-8
PMID 37957369
发布时间 2023-11-28
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