Impaired glycinergic transmission in hyperekplexia: a model of parasomnia overlap disorder

by Régis Lopez, François Rivier, Jamel Chelly, Yves Dauvilliers
Published 2019-09-01

Congenital muscular dystrophies: classification and diagnostic strategy

by François Rivier, Pierre Meyer, Ulrike Walther-Louvie, Moïse Mercier, Bernard Echenne, Susana Quijano-Roy
Published 2015-02-01

Biochemical properties of gastrokine-1 purified from chicken gizzard smooth muscle.

by Karim Hnia, Cécile Notarnicola, Pascal de Santa Barbara, Gérald Hugon, François Rivier, Dalila Laoudj-Chenivesse, Dominique Mornet
Published 2008-01-01

Generation of three Duchenne Muscular Dystrophy patient-specific induced pluripotent stem cell lines DMD_YoTaz_PhyMedEXp, DMD_RaPer_PhyMedEXp, DMD_OuMen_PhyMedEXp (INSRMi008-A, INS...

by Monia Souidi, Pascal Amédro, Pierre Meyer, Romain Desprat, Jean-Marc Lemaître, François Rivier, Alain Lacampagne, Albano C. Meli
Published 2020-12-01

Hereditary spastic paraplegia and prominent sensorial involvement: think MAG mutations!

by Agathe Roubertie, Majida Charif, Pierre Meyer, Gael Manes, Isabelle Meunier, Guillaume Taieb, Raul Junta Morales, Agnès Guichet, Cecile Delettre, Emmanuelle Sarzi, Nicolas Leboucq, François Rivier, Guy Lenaers
Published 2019-08-01

Sporadic and Familial Variants in NF1: An Explanation of the Wide Variability in Neurocognitive Phenotype?

by Maëlle Biotteau, Maëlle Biotteau, Sébastien Déjean, Sandrine Lelong, Stéphanie Iannuzzi, Nathalie Faure-Marie, Pierre Castelnau, Pierre Castelnau, Pierre Castelnau, François Rivier, Valérie Lauwers-Cancès, Eloïse Baudou, Eloïse Baudou, Yves Chaix, Yves Chaix
Published 2020-05-01

Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females.

by Christel Depienne, Delphine Bouteiller, Boris Keren, Emmanuel Cheuret, Karine Poirier, Oriane Trouillard, Baya Benyahia, Chloé Quelin, Wassila Carpentier, Sophie Julia, Alexandra Afenjar, Agnès Gautier, François Rivier, Sophie Meyer, Patrick Berquin, Marie Hélias, Isabelle Py, Serge Rivera, Nadia Bahi-Buisson, Isabelle Gourfinkel-An, Cécile Cazeneuve, Merle Ruberg, Alexis Brice, Rima Nabbout, Eric Leguern
Published 2009-02-01

Correction: Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females

by Christel Depienne, Delphine Bouteiller, Boris Keren, Emmanuel Cheuret, Karine Poirier, Oriane Trouillard, Baya Benyahia, Chloé Quelin, Wassila Carpentier, Sophie Julia, Alexandra Afenjar, Agnès Gautier, François Rivier, Sophie Meyer, Patrick Berquin, Marie Hélias, Isabelle Py, Serge Rivera, Nadia Bahi-Buisson, Isabelle Gourfinkel-An, Cécile Cazeneuve, Merle Ruberg, Alexis Brice, Rima Nabbout, Eric LeGuern
Published 2009-04-01

Correction: Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in Resembles Dravet Syndrome but Mainly Affects Females.

by Christel Depienne, Delphine Bouteiller, Boris Keren, Emmanuel Cheuret, Karine Poirier, Oriane Trouillard, Baya Benyahia, Chloé Quelin, Wassila Carpentier, Sophie Julia, Alexandra Afenjar, Agnès Gautier, François Rivier, Sophie Meyer, Patrick Berquin, Marie Hélias, Isabelle Py, Serge Rivera, Nadia Bahi-Buisson, Isabelle Gourfinkel-An, Cécile Cazeneuve, Merle Ruberg, Alexis Brice, Rima Nabbout, Eric LeGuern
Published 2009-04-01

Palliative Care in SMA Type 1: A Prospective Multicenter French Study Based on Parents' Reports

by Marie Hully, Marie Hully, Christine Barnerias, Delphine Chabalier, Sophie Le Guen, Virginie Germa, Elodie Deladriere, Catherine Vanhulle, Jean-Marie Cuisset, Brigitte Chabrol, Claude Cances, Carole Vuillerot, Caroline Espil, Michele Mayer, Marie-Christine Nougues, Pascal Sabouraud, Jeremie Lefranc, Vincent Laugel, Francois Rivier, Ulrike Walther Louvier, Julien Durigneux, Sylvia Napuri, Catherine Sarret, Michel Renouil, Alice Masurel, Marcel-Louis Viallard, Marcel-Louis Viallard, Isabelle Desguerre
Published 2020-02-01

An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Familie...

by Raul Juntas Morales, Aurélien Perrin, Guilhem Solé, Delphine Lacourt, Henri Pegeot, Ulrike Walther-Louvier, Pascal Cintas, Claude Cances, Caroline Espil, Corinne Theze, Reda Zenagui, Kevin Yauy, Elodie Cosset, Dimitri Renard, Valerie Rigau, Andre Maues de Paula, Emmanuelle Uro-Coste, Marie-Christine Arne-Bes, Marie-Laure Martin Négrier, Nicolas Leboucq, Blandine Acket, Edoardo Malfatti, Valérie Biancalana, Corinne Metay, Pascale Richard, John Rendu, François Rivier, Michel Koenig, Mireille Cossée
Published 2021-07-01

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.

by Claire S Leblond, Caroline Nava, Anne Polge, Julie Gauthier, Guillaume Huguet, Serge Lumbroso, Fabienne Giuliano, Coline Stordeur, Christel Depienne, Kevin Mouzat, Dalila Pinto, Jennifer Howe, Nathalie Lemière, Christelle M Durand, Jessica Guibert, Elodie Ey, Roberto Toro, Hugo Peyre, Alexandre Mathieu, Frédérique Amsellem, Maria Rastam, I Carina Gillberg, Gudrun A Rappold, Richard Holt, Anthony P Monaco, Elena Maestrini, Pilar Galan, Delphine Heron, Aurélia Jacquette, Alexandra Afenjar, Agnès Rastetter, Alexis Brice, Françoise Devillard, Brigitte Assouline, Fanny Laffargue, James Lespinasse, Jean Chiesa, François Rivier, Dominique Bonneau, Beatrice Regnault, Diana Zelenika, Marc Delepine, Mark Lathrop, Damien Sanlaville, Caroline Schluth-Bolard, Patrick Edery, Laurence Perrin, Anne Claude Tabet, Michael J Schmeisser, Tobias M Boeckers, Mary Coleman, Daisuke Sato, Peter Szatmari, Stephen W Scherer, Guy A Rouleau, Catalina Betancur, Marion Leboyer, Christopher Gillberg, Richard Delorme, Thomas Bourgeron
Published 2014-09-01