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Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism
Authors:Torunn Fiskerstrand  Dorra H'mida-Ben Brahim  Stefan Johansson  Bjørn Ivar Haukanes  Julian Zimmermann  Christian Vedeler  Cecilie Bredrup  Meriem Tazir  Abdelmadjid Hamri  Helge Boman  Michel Koenig  Per M Knappskog
Institution:1 Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, N-5021 Bergen, Norway
2 Institut de Genetique et de Biologie Moleculaire et Cellulaire (IGBMC), CNRS-INSERM-Universite de Strasbourg, F-67000 Illkirch, France
3 Centre Hospitalo-Universitaire Benbadis, 25000 Constantine, Algeria
4 Klinik und Poliklinik für Neurologie, Universitätsklinikum, D-53105 Bonn, Germany
5 The MGH Epilepsy Service, Massachusetts General Hospital, and Harvard Medical School, Boston, MA 02114, USA
6 Department of Neurology, Haukeland University Hospital, N-5021 Bergen, Norway
7 Department of Clinical Medicine, University of Bergen, N-5020 Bergen, Norway
8 Department of Ophthalmology, Haukeland University Hospital, N-5021 Bergen, Norway
9 Service de Neurologie, Centre Hospitalo-Universitaire Mustapha, 16000 Algiers, Algeria
10 Deutsches Zentrum für Neurodegenerative Erkrangungen (DZNE), D-53105 Bonn, Germany
11 Service de Cytogénétique de Génétique Moléculaire et de Biologie de la Reproduction, CHU Farhat Hached, 4000 Sousse, Tunisia
Abstract:
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