Publications

REEP1 Mutations in SPG31: Frequency, Mutational Spectrum, and Potential Association with Mitochondrial Morpho-Functional Dysfunction

Cyril Goizet - Christel Depienne - Giovanni Benard - Amir Boukhris - Emeline Mundwiller - Guilhem Solé - Isabelle Coupry - Julie Pilliod - Marie-Laure Martin-Négrier - Estelle Fedirko - Sylvie Forlani - Cécile Cazeneuve - Didier Hannequin - Perrine Charles - Imed Feki - Jean-François Pinel - Anne-Marie Ouvrard-Hernandez - Stanislas Lyonnet - Elisabeth Ollagnon-Roman - Jacqueline Yaouanq - Annick Toutain - Christelle Dussert - Bertrand Fontaine - Eric Leguern - Didier Lacombe - Alexandra Durr - Rodrigue Rossignol - Alexis Brice - Giovanni Stevanin
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Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

Patrick May - Simon Girard - Merle Harrer - Dheeraj R Bobbili - Julian Schubert - Stefan Wolking - Felicitas Becker - Pamela Lachance-Touchette - Caroline Meloche - Micheline Gravel - Cristina E Niturad - Julia Knaus - Carolien De Kovel - Mohamad Toliat - Anne Polvi - Michele Iacomino - Rosa Guerrero-López - Stéphanie Baulac - Carla Marini - Holger Thiele - Janine Altmüller - Kamel Jabbari - Ann-Kathrin Ruppert - Wiktor Jurkowski - Dennis Lal - Raffaella Rusconi - Sandrine Cestèle - Benedetta Terragni - Ian D Coombs - Christopher A Reid - Pasquale Striano - Hande Caglayan - Auli Siren - Kate Everett - Rikke S Møller - Helle Hjalgrim - Hiltrud Muhle - Ingo Helbig - Wolfram S Kunz - Yvonne G Weber - Sarah Weckhuysen - Peter De Jonghe - Sanjay M Sisodiya - Rima Nabbout - Silvana Franceschetti - Antonietta Coppola - Maria S Vari - Dorothée Kasteleijn-Nolst Trenité - Betul Baykan - Ugur Ozbek - Nerses Bebek - Karl M Klein - Felix Rosenow - Dang K Nguyen - François Dubeau - Lionel Carmant - Anne Lortie - Richard Desbiens - Jean-François Clément - Cécile Cieuta-Walti - Graeme J Sills - Pauls Auce - Ben Francis - Michael R Johnson - Anthony G Marson - Bianca Berghuis - Josemir W Sander - Andreja Avbersek - Mark McCormack - Gianpiero L Cavalleri - Norman Delanty - Chantal Depondt - Martin Krenn - Fritz Zimprich - Sarah Peter - Marina Nikanorova - Robert Kraaij - Jeroen van Rooij - Rudi Balling - M Arfan Ikram - André G Uitterlinden - Giuliano Avanzini - Stephanie Schorge - Steven Petrou - Massimo Mantegazza - Thomas Sander - Eric LeGuern - Jose M Serratosa - Bobby P C Koeleman - Aarno Palotie - Anna-Elina Lehesjoki - Michael Nothnagel - Peter Nürnberg - Snezana Maljevic - Federico Zara - Patrick Cossette - Roland Krause - Holger Lerche - Epicure Consortium - EuroEPINOMICS - CoGIE Consortium - EpiPGX Consortium
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PRRT2 mutations A major cause of paroxysmal kinesigenic dyskinesia in the European population

Aurélie Méneret - David Grabli - Christel Depienne - Cécile Gaudebout - Fabienne Picard - Alexandra Dürr - Isabelle Lagroua - Delphine Bouteiller - Cyril Mignot - Diane Doummar - Mathieu Anheim - Christine Tranchant - Pierre Burbaud - Charles Pierre Jedynak - Domitille Gras - Dominique Steschenko - David Devos - Thierry Billette de Villemeur - Marie Vidailhet - Alexis Brice - Emmanuel Roze
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Methylation profiling identifies 2 groups of gliomas according to their tumorigenesis

Julien Laffaire - Sibille Everhard - Ahmed Idbaih - Emmanuelle Crinière - Yannick Marie - Aurelien de Reyniès - Renaud Schiappa - Karima Mokhtari - Khê Hoang-Xuan - Marc Sanson - Jean-Yves Delattre - Joëlle Thillet - François Ducray
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Glioma tumor grade correlates with parkin depletion in mutant p53-linked tumors and results from loss of function of p53 transcriptional activity

J Viotti - E Duplan - C Caillava - J Condat - T Goiran - C Giordano - Y Marie - A Idbaih - J-Y Delattre - J Honnorat - F Checler - C Alves da Costa
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