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Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype.

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第一作者: Lou,Grangeon
第一单位: Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Neurology and CNR-MAJ, F, Normandy Center for Genomic and Personalized Medicine, Rouen, France.
作者单位: Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Neurology and CNR-MAJ, F, Normandy Center for Genomic and Personalized Medicine, Rouen, France. [1] Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and CNR-MAJ, F, Normandy Center for Genomic and Personalized Medicine, Rouen, France. [2] Department of Neurology and CNR-MAJ, Lille University Hospital, Lille, France. [3] Department of Neurology, Nantes University Hospital, Nantes, France. [4] Département de neurologie, Hôpital Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, Faculté de médecine de Sorbonne Université, Inserm U1127, CNRS UMR 7225, ICM, F-75013, Sorbonne Universites, Paris, France. [5] Service de Neurologie, Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre; Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.;Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Illkirch, France. [6] Department of Neurology, Aix Hospital, Aix-en-Provence, France. [7] Department of Neurology, Saint-Etienne University Hospital, Saint-Etienne, France. [8] Department of Neurology A, Salengro University Hospital, and EA4559, Lille, France. [9] Department of Neurology, Montpellier University Hospital, Montpellier, France. [10] Toulouse NeuroImaging Center, Toulouse University, Inserm, Toulouse, France.;Department of Neurology, Toulouse University Hospital, Toulouse, France. [11] Toulouse NeuroImaging Center, Toulouse University, Inserm, Toulouse, France. [12] Normandie Univ, UNIROUEN, Inserm U1239, Laboratory of Neuronal and Neuroendocrine Differentiation and Communication, Mont-Saint-Aignan and Rouen University Hospital, Department of Neurology, F-76000, Rouen, France. [13] Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, F-91057, Evry, France. [14] Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and CNR-MAJ, F, Normandy Center for Genomic and Personalized Medicine, Rouen, France.;Department of Research, Rouvray Psychiatric Hospital, Sotteville-les-Rouen, France. [15]
DOI 10.1093/brain/awz095
PMID 31009047
发布时间 2021-12-04
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Brain : a journal of neurology

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