Search

Author/Creator Ollivier, Emmanuelle

1. Exome sequencing in 57 patients with self-limited focal epilepsies of childhood with typical or atypical presentations suggests novel candidate genes. (July 2020)

Authors:
Rudolf, Gabrielle; de Bellescize, Julitta; de Saint Martin, Anne; Arzimanoglou, Alexis; Valenti Hirsch, Maria Paola; Labalme, Audrey; Boulay, Clotilde; Simonet, Thomas; Boland, Anne; Deleuze, Jean François; Nitschké, Patrick; Ollivier, Emmanuelle; Sanlaville, Damien; Hirsch, Edouard; Chelly, Jame...
Journal:
European journal of paediatric neurology
Issue:
Volume 27(2020)
Page Start:
104
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Increased diagnostic yield in complex dystonia through exome sequencing. (May 2020)

Authors:
Wirth, Thomas; Tranchant, Christine; Drouot, Nathalie; Keren, Boris; Mignot, Cyril; Cif, Laura; Lefaucheur, Romain; Lion-François, Laurence; Méneret, Aurélie; Gras, Domitille; Roze, Emmanuel; Laroche, Cécile; Burbaud, Pierre; Bannier, Stéphanie; Lagha-Boukbiza, Ouhaid; Spitz, Marie-Aude; Laugel, ...
Journal:
Parkinsonism & related disorders
Issue:
Volume 74(2020)
Page Start:
50
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Loss‐of‐Function Mutations in NR4A2 Cause Dopa‐Responsive Dystonia Parkinsonism. Issue 5 (10th January 2020)

Authors:
Wirth, Thomas; Mariani, Louise Laure; Bergant, Gaber; Baulac, Michel; Habert, Marie‐Odile; Drouot, Nathalie; Ollivier, Emmanuelle; Hodžić, Alenka; Rudolf, Gorazd; Nitschke, Patrick; Rudolf, Gabrielle; Chelly, Jamel; Tranchant, Christine; Anheim, Mathieu; Roze, Emmanuel
Journal:
Movement disorders
Issue:
Volume 35:Issue 5(2020)
Page Start:
880
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal–Hreidarsson syndrome. (27th January 2020)

Authors:
Benyelles, Maname; O'Donohue, Marie-Françoise; Kermasson, Laëtitia; Lainey, Elodie; Borie, Raphael; Lagresle-Peyrou, Chantal; Nunes, Hilario; Cazelles, Clarisse; Fourrage, Cécile; Ollivier, Emmanuelle; Marcais, Ambroise; Gamez, Anne-Sophie; Morice-Picard, Fanny; Caillaud, Denis; Pottier, Nicolas;...
Journal:
Human molecular genetics
Issue:
Volume 29:Number 6(2020)
Page Start:
907
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗