Increased diagnostic yield in complex dystonia through exome sequencing
Thomas Wirth, Christine Tranchant, Nathalie Drouot, Boris Keren, Cyril Mignot, Laura Cif, Romain Lefaucheur, Laurence Lion‐François, Aurélie Méneret, Domitille Gras, Emmanuel Roze, Cécile Laroche, Pierre Burbaud, Stéphanie Bannier, Ouhaïd Lagha‐Boukbiza, Marie‐Aude Spitz, Vincent Laugel, Matthieu Béreau, Emmanuelle Ollivier, Patrick Nitschké, Diane Doummar, Gabrielle Rudolf, Mathieu Anheim, Jamel Chelly
Topics & Concepts
DystoniaExome sequencingYield (engineering)MedicineComputational biologyNeuroscienceGeneticsBiologyPhenotypeMaterials scienceGeneMetallurgyGenomics and Rare DiseasesHereditary Neurological DisordersNeurological disorders and treatments