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Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype.
Grangeon, Lou; Wallon, David; Charbonnier, Camille; Quenez, Olivier; Richard, Anne-Claire; Rousseau, Stéphane; Budowski, Clara; Lebouvier, Thibaud; Corbille, Anne-Gaëlle; Vidailhet, Marie; Méneret, Aurélie; Roze, Emmanuel; Anheim, Mathieu; Tranchant, Christine; Favrole, Pascal; Antoine, Jean-Christophe; Defebvre, Luc; Ayrignac, Xavier; Labauge, Pierre; Pariente, Jérémie; Clanet, Michel; Maltête, David; Rovelet-Lecrux, Anne; Boland, Anne; Deleuze, Jean-François; Frebourg, Thierry; Hannequin, Didier; Campion, Dominique; Nicolas, Gaël.
Afiliación
  • Grangeon L; 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.
  • Wallon D; 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.
  • Charbonnier C; 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.
  • Quenez O; 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.
  • Richard AC; 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.
  • Rousseau S; 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.
  • Budowski C; 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.
  • Lebouvier T; Department of Neurology and CNR-MAJ, Lille University Hospital, Lille, France.
  • Corbille AG; Department of Neurology, Nantes University Hospital, Nantes, France.
  • Vidailhet M; 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.
  • Méneret A; 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.
  • Roze E; 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.
  • Anheim M; Service de Neurologie, Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre; Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.
  • Tranchant C; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Illkirch, France.
  • Favrole P; Service de Neurologie, Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre; Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.
  • Antoine JC; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Illkirch, France.
  • Defebvre L; Department of Neurology, Aix Hospital, Aix-en-Provence, France.
  • Ayrignac X; Department of Neurology, Saint-Etienne University Hospital, Saint-Etienne, France.
  • Labauge P; Department of Neurology A, Salengro University Hospital, and EA4559, Lille, France.
  • Pariente J; Department of Neurology, Montpellier University Hospital, Montpellier, France.
  • Clanet M; 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.
  • Maltête D; Toulouse NeuroImaging Center, Toulouse University, Inserm, Toulouse, France.
  • Rovelet-Lecrux A; Department of Neurology, Toulouse University Hospital, Toulouse, France.
  • Boland A; Toulouse NeuroImaging Center, Toulouse University, Inserm, Toulouse, France.
  • Deleuze JF; 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.
  • Frebourg T; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, F-91057, Evry, France.
  • Hannequin D; Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, F-91057, Evry, France.
  • Nicolas G; 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.
Brain ; 142(6): 1573-1586, 2019 06 01.
Article en En | MEDLINE | ID: mdl-31009047
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Encéfalo / Encefalopatías / Glicósido Hidrolasas / Malformaciones del Sistema Nervioso Límite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Brain Año: 2019 Tipo del documento: Article País de afiliación: Francia
Texto completo
Añadir a Mi BVS
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Encéfalo / Encefalopatías / Glicósido Hidrolasas / Malformaciones del Sistema Nervioso Límite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Brain Año: 2019 Tipo del documento: Article País de afiliación: Francia