C
Cyril Gitiaux
Researcher at Necker-Enfants Malades Hospital
Publications - 89
Citations - 2029
Cyril Gitiaux is an academic researcher from Necker-Enfants Malades Hospital. The author has contributed to research in topics: Medicine & Juvenile dermatomyositis. The author has an hindex of 21, co-authored 71 publications receiving 1553 citations. Previous affiliations of Cyril Gitiaux include Paris Descartes University & Paris 12 Val de Marne University.
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Journal ArticleDOI
Mutations in TUBG1 , DYNC1H1 , KIF5C and KIF2A cause malformations of cortical development and microcephaly
Karine Poirier,Nicolas Lebrun,Nicolas Lebrun,Loic Broix,Loic Broix,Guoling Tian,Yoann Saillour,Yoann Saillour,Cécile Boscheron,Elena Parrini,Stéphanie Valence,Stéphanie Valence,Benjamin Saint Pierre,Benjamin Saint Pierre,Madison Oger,Madison Oger,Didier Lacombe,David Geneviève,Elena Fontana,Franscesca Darra,Claude Cances,Magalie Barth,Dominique Bonneau,Bernardo Dalla Bernadina,Sylvie Nguyen,Cyril Gitiaux,Cyril Gitiaux,Cyril Gitiaux,Philippe Parent,Vincent des Portes,Jean Michel Pedespan,Victoire Legrez,Laetitia Castelnau-Ptakine,Laetitia Castelnau-Ptakine,Patrick Nitschke,Thierry Hieu,Cécile Masson,Diana Zelenika,Annie Andrieux,Fiona Francis,Fiona Francis,Renzo Guerrini,Nicholas J. Cowan,Nadia Bahi-Buisson,Nadia Bahi-Buisson,Nadia Bahi-Buisson,Jamel Chelly,Jamel Chelly +47 more
TL;DR: The discovery of multiple pathogenic missense mutations in TUBG1, DYNC1H1 and KIF2A, as well as a single germline mosaic mutation in KIF5C, in subjects with MCD are reported, suggesting that microtubule-dependent mitotic and postmitotic processes are major contributors to the pathogenesis of MCD.
Journal ArticleDOI
Coupling between Myogenesis and Angiogenesis during Skeletal Muscle Regeneration Is Stimulated by Restorative Macrophages
Claire Latroche,Michèle Weiss-Gayet,Laurent Muller,Cyril Gitiaux,Pascal Leblanc,Sophie Liot,Sabrina Ben-Larbi,Rana Abou-Khalil,Nicolas Verger,Paul Bardot,Mélanie Magnan,Fabrice Chrétien,Rémi Mounier,Stéphane Germain,Bénédicte Chazaud,Bénédicte Chazaud +15 more
TL;DR: It is demonstrated in human and mouse that endothelial cells and myogenic progenitor cells interacted together to couple myogenesis and angiogenesis in vitro and in vivo during skeletal muscle regeneration.
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Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations.
Mathieu Milh,Nathalie Villeneuve,Mondher Chouchane,Anna Kaminska,Cécile Laroche,Marie Anne Barthez,Cyril Gitiaux,Céline Bartoli,Ana Borges-Correia,Ana Borges-Correia,Pierre Cacciagli,Cécile Mignon-Ravix,Cécile Mignon-Ravix,Hélène Cuberos,Hélène Cuberos,Brigitte Chabrol,Laurent Villard,Laurent Villard +17 more
TL;DR: STXBP1 (MUNC18‐1) mutations have been associated with various types of epilepsies, mostly beginning early in life, and this gene was studied in a cohort of patients with early onset epileptic encephalopathy to refine the phenotype associated with STX BP1 aberrations.
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Treatment and outcome of children and adolescents with N-methyl-d-aspartate receptor encephalitis
Anastasia Zekeridou,Evgenia Karantoni,Aurélien Viaccoz,Aurélien Viaccoz,François Ducray,François Ducray,Cyril Gitiaux,Frédéric Villega,Kumaran Deiva,Véronique Rogemond,Elodie Mathias,Géraldine Picard,Marc Tardieu,Jean-Christophe Antoine,Jean-Yves Delattre,Jérôme Honnorat +15 more
TL;DR: The present study highlights the need for clinical trials to determine the optimal treatment of NMDA-R encephalitis and suggests age >12 years was a predictor of good outcome and initial mRS ≤ 3 was a predictors of complete recovery.
Journal ArticleDOI
Mutations in the telomere capping complex in bone marrow failure and related syndromes
Amanda J. Walne,Tanya Bhagat,Michael Kirwan,Cyril Gitiaux,Isabelle Desguerre,Norma Leonard,Elena Nogales,Tom Vulliamy,Inderjeet Dokal +8 more
TL;DR: The phenotypic spectrum associated with CTC1 mutations is expanded and it is reported that intracranial and retinal abnormalities are not a defining feature, as well as showing that the effect of these mutations on telomere length is variable.