N
Nadia Bahi-Buisson
Researcher at Necker-Enfants Malades Hospital
Publications - 197
Citations - 9849
Nadia Bahi-Buisson is an academic researcher from Necker-Enfants Malades Hospital. The author has contributed to research in topics: Epilepsy & Rett syndrome. The author has an hindex of 45, co-authored 185 publications receiving 8222 citations. Previous affiliations of Nadia Bahi-Buisson include Paris Descartes University & Centre national de la recherche scientifique.
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Journal ArticleDOI
Rett syndrome: Revised diagnostic criteria and nomenclature
Jeffrey L. Neul,Walter E. Kaufmann,Daniel G. Glaze,John Christodoulou,Angus John Clarke,Nadia Bahi-Buisson,Helen Leonard,Mark E.S. Bailey,N. Carolyn Schanen,Michele Zappella,Alessandra Renieri,Peter Huppke,Alan K. Percy +12 more
TL;DR: The purpose of this work was to revise and clarify 2002 consensus criteria for the diagnosis of RTT in anticipation of treatment trials.
Journal ArticleDOI
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Yanick J. Crow,Diana Chase,Johanna Lowenstein Schmidt,Marcin Szynkiewicz,Gabriella Forte,Hannah Gornall,Anthony Oojageer,Beverley Anderson,Amy Pizzino,Guy Helman,Mohamed S. Abdel-Hamid,Ghada M H Abdel-Salam,Sam Ackroyd,Alec Aeby,Guillermo Agosta,Catherine Albin,Stavit Allon-Shalev,Montse Arellano,Giada Ariaudo,Vijay Aswani,Riyana Babul-Hirji,Eileen Baildam,Nadia Bahi-Buisson,Kathryn Bailey,Christine Barnerias,Magalie Barth,Roberta Battini,Michael W. Beresford,Geneviève Bernard,Marika Bianchi,Thierry Billette de Villemeur,Edward Blair,Miriam Bloom,Alberto B. Burlina,Maria Luisa Carpanelli,Daniel R. Carvalho,Manuel Castro-Gago,Anna Cavallini,Cristina Cereda,Kate Chandler,David Chitayat,Abigail Collins,Concepcion Sierra Corcoles,Nuno Cordeiro,Giovanni Crichiutti,Lyvia Dabydeen,Russell C. Dale,Stefano D'Arrigo,Christian de Goede,Corinne De Laet,Liesbeth De Waele,Inés Denzler,Isabelle Desguerre,Koenraad Devriendt,Maja Di Rocco,Michael C Fahey,Elisa Fazzi,Colin D. Ferrie,António Figueiredo,Blanca Gener,Cyril Goizet,Nirmala Rani Gowrinathan,Kalpana Gowrishankar,Donncha Hanrahan,Bertrand Isidor,Bülent Kara,Nasaim Khan,Mary D. King,Edwin P. Kirk,Ram L. Kumar,Lieven Lagae,Pierre Landrieu,Heinz Lauffer,Vincent Laugel,Roberta La Piana,Ming K. Lim,Jean-Pierre Lin,Tarja Linnankivi,Mark T Mackay,Daphna Marom,Charles Marques Lourenço,Shane McKee,Isabella Moroni,Jenny Morton,Marie Laure Moutard,Kevin J. Murray,Rima Nabbout,Sheela Nampoothiri,Noemi Nunez-Enamorado,Patrick J. Oades,Ivana Olivieri,John R. Østergaard,Belén Pérez-Dueñas,Julie S. Prendiville,Venkateswaran Ramesh,Magnhild Rasmussen,Luc Régal,Federica Ricci,Marlène Rio,Diana Rodriguez,Agathe Roubertie,Elisabetta Salvatici,Karin Segers,Gyanranjan P. Sinha,Doriette Soler,Ronen Spiegel,Tommy Stödberg,Rachel Straussberg,Kathryn J. Swoboda,Mohnish Suri,Uta Tacke,Tiong Yang Tan,Johann te Water Naude,Keng Wee Teik,Maya Thomas,Marianne Till,Davide Tonduti,Enza Maria Valente,Rudy Van Coster,Marjo S. van der Knaap,Grace Vassallo,Raymon Vijzelaar,Julie Vogt,Geoffrey Wallace,Evangeline Wassmer,Hannah J. Webb,William P Whitehouse,Robyn Whitney,Maha S. Zaki,Sameer M. Zuberi,John H. Livingston,Flore Rozenberg,Pierre Lebon,Adeline Vanderver,Simona Orcesi,Gillian I. Rice +135 more
TL;DR: A robust relationship between mutations in all seven genes with increased type I interferon activity in cerebrospinal fluid and serum, and the increased expression of interferOn‐stimulated gene transcripts in peripheral blood is observed.
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
Glucose transporter-1 deficiency syndrome: The expanding clinical and genetic spectrum of a treatable disorder
Wilhelmina G. Leen,Joerg Klepper,Marcel M. Verbeek,Maike Leferink,Tom G.J. Hofste,Baziel G.M. van Engelen,Ron A. Wevers,Todd Arthur,Nadia Bahi-Buisson,Diana Ballhausen,Jolita Bekhof,Patrick Van Bogaert,Ines Carrilho,Brigitte Chabrol,Michael Champion,James Coldwell,Peter E. Clayton,Elizabeth J. Donner,Athanasios Evangeliou,F. Ebinger,Kevin Farrell,Rob Forsyth,Christian de Goede,Stephanie Gross,Stephanie Grunewald,Hans Holthausen,Sandeep Jayawant,Katherine Lachlan,Vincent Laugel,Kathy Leppig,Ming K. Lim,Grazia M.S. Mancini,Adela Della Marina,Loreto Martorell,Joe McMenamin,Marije E. C. Meuwissen,Helen Mundy,Nils O. Nilsson,Axel Panzer,Bwee Tien Poll-The,C. Rauscher,Christophe M. R. Rouselle,Inger Sandvig,Thomas Scheffner,Eamonn Sheridan,Neil Simpson,Parol Sykora,Richard Tomlinson,John Trounce,David Webb,Bernhard Weschke,Hans Scheffer,Michèl A.A.P. Willemsen +52 more
TL;DR: It is demonstrated that a lumbar puncture provides the diagnostic clue to glucose transporter-1 deficiency syndrome and can thereby dramatically reduce diagnostic delay to allow early start of the ketogenic diet.
Journal ArticleDOI
Mutations in the [beta]-tubulin gene TUBB2B result in asymmetrical polymicrogyria
Xavier H. Jaglin,Karine Poirier,Karine Poirier,Yoann Saillour,Yoann Saillour,Emmanuelle Buhler,Guoling Tian,Nadia Bahi-Buisson,Nadia Bahi-Buisson,Nadia Bahi-Buisson,Catherine Fallet-Bianco,Françoise Phan-Dinh-Tuy,Françoise Phan-Dinh-Tuy,Françoise Phan-Dinh-Tuy,Xiang-Peng Kong,Pascale Bomont,Laetitia Castelnau-Ptakhine,Laetitia Castelnau-Ptakhine,Sylvie Odent,Philippe Loget,Manoelle Kossorotoff,Irina N. Snoeck,Ghislaine Plessis,Philippe Parent,Cherif Beldjord,Carlos Cardoso,Alfonso Represa,Jonathan Flint,David A. Keays,Nicholas J. Cowan,Jamel Chelly,Jamel Chelly +31 more
TL;DR: In utero RNAi-based inactivation demonstrates that TUBB2B is required for neuronal migration and shows that disruption of microtubule-based processes underlies a large spectrum of neuronal migration disorders that includes not only lissencephaly and pachygyria, but also polymicrogyria malformations.