Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype-Reference-Cited by-同舟云学术

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

Published:2019-04-22 Issue:6 Volume:142 Page:1573-1586
ISSN:0006-8950
Container-title:Brain
language:en
Short-container-title:

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