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Nathalie Boddaert
Researcher at Necker-Enfants Malades Hospital
Publications - 488
Citations - 19577
Nathalie Boddaert is an academic researcher from Necker-Enfants Malades Hospital. The author has contributed to research in topics: Medicine & Magnetic resonance imaging. The author has an hindex of 67, co-authored 424 publications receiving 16226 citations. Previous affiliations of Nathalie Boddaert include Paris Descartes University & École Normale Supérieure.
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Journal ArticleDOI
Suggested guidelines for the diagnosis and management of urea cycle disorders
Johannes Häberle,Nathalie Boddaert,Alberto Burlina,Anupam Chakrapani,Marjorie Dixon,Martina Huemer,Daniela Karall,Diego Martinelli,Pablo Sanjurjo Crespo,René Santer,Aude Servais,Vassili Valayannopoulos,Martin Lindner,Vicente Rubio,Carlo Dionisi-Vici +14 more
TL;DR: These guidelines aim at providing a trans-European consensus to guide practitioners, set standards of care and help awareness campaigns, and help to harmonise practice, set common standards and spread good practices with a positive impact on the outcomes of UCD patients.
Journal ArticleDOI
Abnormal cortical voice processing in autism.
Hélène Gervais,Pascal Belin,Nathalie Boddaert,Marion Leboyer,Arnaud Coez,Ignacio Sfaello,Catherine Barthélémy,Francis Brunelle,Yves Samson,Monica Zilbovicius +9 more
TL;DR: Functional magnetic resonance imaging results showing that individuals with autism failed to activate superior temporal sulcus voice-selective regions in response to vocal sounds, whereas they showed a normal activation pattern in Response to nonvocal sounds suggest abnormal cortical processing of socially relevant auditory information in autism.
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The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome
Marion Delous,Lekbir Baala,Rémi Salomon,Christine Laclef,Christine Laclef,Jeanette Vierkotten,Kálmán Tory,Christelle Golzio,Tiphanie Lacoste,Laurianne Besse,Laurianne Besse,Catherine Ozilou,Imane Moutkine,Nathan E. Hellman,Isabelle Anselme,Isabelle Anselme,Flora Silbermann,Christine Vesque,Christine Vesque,Christoph Gerhardt,Eleanor Rattenberry,Matthias T.F. Wolf,Marie Claire Gubler,Jelena Martinovic,Férechté Encha-Razavi,Nathalie Boddaert,Marie Gonzales,Marie Alice Macher,Hubert Nivet,Gérard Champion,Jean Pierre Berthélémé,Patrick Niaudet,Fiona McDonald,Friedhelm Hildebrandt,Colin A. Johnson,Michel Vekemans,Corinne Antignac,Ulrich Rüther,Sylvie Schneider-Maunoury,Sylvie Schneider-Maunoury,Tania Attié-Bitach,Sophie Saunier +41 more
TL;DR: Findings show that mutations in RPGRIP1L can cause the multiorgan phenotypic abnormalities found in CORS or MKS, which therefore represent a continuum of the same underlying disorder.
Journal ArticleDOI
Histone H3F3A and HIST1H3B K27M mutations define two subgroups of diffuse intrinsic pontine gliomas with different prognosis and phenotypes.
David Castel,Cathy Philippe,Raphael Calmon,Ludivine Le Dret,Nathalene Truffaux,Nathalie Boddaert,Mélanie Pagès,Kathryn R. Taylor,Patrick Saulnier,Ludovic Lacroix,Alan Mackay,Chris Jones,Christian Sainte-Rose,Thomas Blauwblomme,Felipe Andreiuolo,Stéphanie Puget,Jacques Grill,Pascale Varlet,Marie-Anne Debily,Marie-Anne Debily +19 more
TL;DR: H3K27 alterations appear as the founding event in DIPG and the mutations in the two main histone H3 variants drive two distinct oncogenic programmes with potential specific therapeutic targets.
Journal ArticleDOI
Superior temporal sulcus anatomical abnormalities in childhood autism: a voxel-based morphometry MRI study
Nathalie Boddaert,Nadia Chabane,H. Gervais,Catriona D. Good,Muriel Le Bourgeois,Marie-Hélène Plumet,Catherine Barthélémy,Marie-Christine Mouren,Eric Artiges,Yves Samson,Francis Brunelle,Francis Brunelle,Richard S. J. Frackowiak,Monica Zilbovicius +13 more
TL;DR: An anatomical MRI study using optimized whole-brain voxel-based morphometry suggests that autism is associated with bilateral anatomical abnormalities localized in the superior temporal sulcus and are remarkably consistent with functional hypoperfusion previously reported in children with autism.