Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype
Author:
Grangeon Lou1, Wallon David1, Charbonnier Camille2, Quenez Olivier2, Richard Anne-Claire2, Rousseau Stéphane2, Budowski Clara1, Lebouvier Thibaud3, Corbille Anne-Gaëlle4, Vidailhet Marie5, Méneret Aurélie5, Roze Emmanuel5, Anheim Mathieu67, Tranchant Christine67, Favrole Pascal8, Antoine Jean-Christophe9, Defebvre Luc10, Ayrignac Xavier11, Labauge Pierre1, Pariente Jérémie1213, Clanet Michel12, Maltête David14, Rovelet-Lecrux Anne2, Boland Anne15, Deleuze Jean-François15, Favrole Pascal, Verny Christophe, Krystkowiak Pierre, Chamard Ludivine, Moutton Sébastien, Goizet Cyril, Ferec Claude, Timsit Serge, Schaeffer Stéphane, Derache Nathalie, Defer Gilles, Durif Franck, Sellal François, Rouaud Olivier, Thauvin-Robinet Christel, Cubizolle Stéphanie, Sauvée Mathilde, Leblanc Amélie, Demas Alexis, Poisson Alice, Tournier-Lasserve Elisabeth, Hervé Dominique, Chabriat Hugues, Grolez Guillaume, Carriere Nicolas, Defebvre Luc, Lebouvier Thibaud, Witjas Tatiana, Azulay Jean-Philippe, Fluchere Frédérique, Didic Mira, Nguyen Karine, Charif Mahmoud, Ayrignac Xavier, Labauge Pierre, Lionnet Caroline, Marelli-Tosi Cecilia, Gaud Simon, Rouaud Tiphaine, Laurens Brice, Folgoas Emmanuelle, Isidor Bertrand, Chiesa Jean, Pallix-Guyot Maud, Gaillard Nicolas, Olivier Nadège, Jurici Snejana, Marey Isabelle, Charles Perrine, Ewenczyck Claire, Durr Alexandra, Hubsch Cécile, Meneret Aurélie, Vidailhet Marie, Nadjar Yann, Le Ber Isabelle, Grabli David, Roze Emmanuel, Navarro Vincent, Mecharles-Darrigol Sylvie, Lagarde Julien, Sarazin Marie, Vérin Marc, Lefaucheur Romain, Maltête David, Wallon David, Hannequin Didier, Martinaud Olivier, Guyant-Maréchal Lucie, Nicolas Gaël, Frebourg Thierry, Richard Anne-Claire, Campion Dominique, Guillin Olivier, Yger Marion, Anheim Mathieu, Renaud Mathilde, Tranchant Christine, Rudolf Gabrielle, Crétin Benjamin, Mallaret Martial, Pariente Jérémie, Ory-Magne Fabienne, Frebourg Thierry2, Hannequin Didier1, Campion Dominique216, Nicolas Gaël2,
Affiliation:
1. 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 2. 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 3. Department of Neurology and CNR-MAJ, Lille University Hospital, Lille, France 4. Department of Neurology, Nantes University Hospital, Nantes, France 5. 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 6. Service de Neurologie, Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre; Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France 7. Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Illkirch, France 8. Department of Neurology, Aix Hospital, Aix-en-Provence, France 9. Department of Neurology, Saint-Etienne University Hospital, Saint-Etienne, France 10. Department of Neurology A, Salengro University Hospital, and EA4559, Lille, France 11. Department of Neurology, Montpellier University Hospital, Montpellier, France 12. Toulouse NeuroImaging Center, Toulouse University, Inserm, Toulouse, France 13. Department of Neurology, Toulouse University Hospital, Toulouse, France 14. 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 15. Centre National de Recherche en Génomique Humaine (CNRGH), Institut de Biologie François Jacob, CEA, Université Paris-Saclay, F-91057, Evry, France 16. Department of Research, Rouvray Psychiatric Hospital, Sotteville-les-Rouen, France
Funder
French National Research Agency CALCIPHOS Conseil Régional de Haute Normandie - APERC European Union and Région Normandie European Regional Development Fund ERDF
Publisher
Oxford University Press (OUP)
Subject
Clinical Neurology
Cited by
47 articles.
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