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Nathalie Boddaert

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M Kossorotoff; S Savard; M Uettwiller; F Brunelle; R Calmon; Isabelle Desguerre; C Gitiaux; D Grevent; C Heilbronner; Nathalie Boddaert
Arterial spin labeling (ASL) magnetic resonance imaging in acute confusional migraine of childhood.
Karine Poirier; Yoann Saillour; Isabelle Souville; Stéphanie Valence; Cherif Beldjord; Nathalie Boddaert; Jamel Chelly; Isabelle Desguerre; Franck Fourniol; Fiona Francis; Marine Line Jacquemont; Jean Marie Lepage; Nadia Bahi-Buisson
Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria.
Svetlana Gataullina; Silvia Napuri; Guy Touati; Vassili Valayannapoulos; Léna Damaj; Pascale de Lonlay; Georges Dellatolas; Olivier Dulac; Cecila Altuzarra; Nathalie Boddaert
Topography of brain damage in metabolic hypoglycaemia is determined by age at which hypoglycaemia occurred.

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2013: M Kossorotoff; S Savard; M Uettwiller; F Brunelle; R Calmon; Isabelle Desguerre; C Gitiaux; D Grevent; C Heilbronner; Nathalie Boddaert
Arterial spin labeling (ASL) magnetic resonance imaging in acute confusional migraine of childhood.
Journal of neuroradiology. Journal de neuroradiologie 2013;40(2):142-4.
2013: Karine Poirier; Yoann Saillour; Isabelle Souville; Stéphanie Valence; Cherif Beldjord; Nathalie Boddaert; Jamel Chelly; Isabelle Desguerre; Franck Fourniol; Fiona Francis; Marine Line Jacquemont; Jean Marie Lepage; Nadia Bahi-Buisson
Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria.
European journal of human genetics : EJHG 2013;21(4):381-5.
2013: Svetlana Gataullina; Silvia Napuri; Guy Touati; Vassili Valayannapoulos; Léna Damaj; Pascale de Lonlay; Georges Dellatolas; Olivier Dulac; Cecila Altuzarra; Nathalie Boddaert
Topography of brain damage in metabolic hypoglycaemia is determined by age at which hypoglycaemia occurred.
Developmental medicine and child neurology 2013;55(2):162-6.
2013: Orianne Philippe; Marlène Rio; Vassili Valayannopoulos; Hilde Van Esch; Jeanne Amiel; Nadia Bahi-Buisson; Geneviève Baujat; Nathalie Boddaert; Jean-Paul Bonnefont; Guy Froyen; Roseline Gesny; valerie malan; Arnold Munnich; Laurence Colleaux
NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications.
European journal of human genetics : EJHG 2013;21(2):195-9.
2013: Nadia Bahi-Buisson; Cherif Beldjord; Nathalie Boddaert; Jamel Chelly; Caroline Elie; Franck J Fourniol; Fiona Francis; Anne Houdusse; Marie Hully; Reham Khalaf-Nazzal; Carolyn A Moores; Karine Poirier; Isabelle Souville; Aurelie Toussaint; Pierre Louis Leger; Jean Yves Lemaitre
New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum.
Brain : a journal of neurology 2013;136(Pt 1):223-44.
2012: Emmanuelle Sarzi; Marie Seveno; Jing Wang; Anne-Laure Mausset-Bonnefont; Jean-Luc Puel; Jean-Pierre Renou; Pascal Reynier; Valérie Rigau; Claire Angebault; Guy Bielicki; Nathalie Boddaert; Philippe Brabet; Chantal Cazevieille; Benjamin Chaix; Cécile Delettre; Naïg Gueguen; Christian P Hamel; Guy Lenaers
The human OPA1delTTAG mutation induces premature age-related systemic neurodegeneration in mouse.
Brain : a journal of neurology 2012;135(Pt 12):3599-613.
2012: Cyril Gitiaux; Marie Hully; Manoelle Kossorotoff; Fabrice Lesage; Jean Bergounioux; Nathalie Boddaert; Dominique Brugel; Isabelle Desguerre; Elias Adjadj; Brigitte Bader-Meunier
Cerebral vasculitis in severe Kawasaki disease: early detection by magnetic resonance imaging and good outcome after intensive treatment.
Developmental medicine and child neurology 2012;54(12):1160-3.
2012: Vanessa Vedrenne; Valérie Serre; Ivan Tarassov; Cecilia Altuzarra; Nathalie Boddaert; Florence Chretien; Pascale de Lonlay; Nina Entelis; Ali Gowher; Anne-Marie Mager-Heckel; Arnold Munnich; Patrick Nitschke; Agnès Rötig
Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency.
American journal of human genetics 2012;91(5):912-8.
2012: Audrey Putoux; Anita Rauch; Albert Schinzel; Sophie Thomas; Michel Vekemans; Caroline Alby; Deborah Bartholdi; Philip L Beales; Nathalie Boddaert; Valérie Cormier-Daire; Nadia Elkhartoufi; Férechté Encha-Razavi; Laurence Faivre; Amale Ichkou; Rajesh Kannan; Nicole Laurent; Julie Litzler; Arnold Munnich; Sheela Nampoothiri; Tania Attié-Bitach
Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome.
Journal of medical genetics 2012;49(11):713-20.
2012: Chloé Quélin; Yoann Saillour; Isabelle Souville; LAURENT VERCUEIL; Cherif Beldjord; Nathalie Boddaert; Jamel Chelly; Fanny Dubois; Anne Elodie Millisher-Bellaiche; Marie Ange N'guyen-Morel; Karine Poirier; Nadia Bahi-Buisson
Mosaic DCX deletion causes subcortical band heterotopia in males.
Neurogenetics 2012;13(4):367-73.
2012: Chloe Quelin; Agathe Roubertie; Yoann Saillour; Cherif Beldjord; Nathalie Boddaert; Jamel Chelly; Isabelle Desguerre; Frank Letourneur; Karine Poirier; Nadia Bahi-Buisson
Focal polymicrogyria are associated with submicroscopic chromosomal rearrangements detected by CGH microarray analysis.
European journal of medical genetics 2012;55(10):527-30.
2012: Federico Di Rocco; James M Drake; David Grevent; Stephanie PUGET; Thomas Roujeau; Thomas Blauwblomme; Nathalie Boddaert; Francis Brunelle; Michel ZERAH; Christian Sainte-Rose
Changes in intracranial CSF distribution after ETV.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2012;28(7):997-1002.
2012: Louise Galmiche; Anne-Sophie Lebre; Arnold Munnich; Marlène Rio; Zahra Assouline; Marine Beinat; Nathalie Boddaert; Florence Chretien; Pascale de Lonlay; Ann Saada (Reisch); Valérie Serre; Ruthie Shenhav; Vanessa Vedrenne; Avraham Zeharia; Raïssa Zossou; Agnès Rötig
Toward genotype phenotype correlations in GFM1 mutations.
Mitochondrion 2012;12(2):242-7.
2012: Vassili Valayannopoulos; Jeanne Amiel; Tania Attié-Bitach; Nadia Bahi-Buisson; Nathalie Boddaert; Francis Brunelle; Lydie Burglen; Jamel Chelly; Jocelyne De Laveaucoupet; Isabelle Desguerre; Ferechté Enza-Razavi; Laurence Hubert; Philippe Labrune; Didier Lacombe; Stanislas LYONNET; Caroline Michot; Diana Rodriguez; Yoann Saillour; Pascale de Lonlay
Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4.
Brain : a journal of neurology 2012;135(Pt 1):e199; author reply e200.
2011: Louise Galmiche; Anne-Sophie Lebre; Arnold Munnich; Patrick Nietschke; Marlène Rio; Zahra Assouline; Marine Beinat; Vladimir Benes; Nathalie Boddaert; Francis Brunelle; Dominique Chretien; Valérie Serre; Daniel Sidi; Agnès Rötig
Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy.
Human mutation 2011;32(11):1225-31.
2011: Edouard Duchesnay; Jean-Franois Mangin; Jean-Luc Martinot; Nathalie Boddaert; Francis Brunelle; Arnaud Cachia; Nadia Chabane; Mônica Zilbovicius
Feature selection and classification of imbalanced datasets: application to PET images of children with autistic spectrum disorders.
NeuroImage 2011;57(3):1003-14.
2011: Stéphanie Puget; Thomas Roujeau; Christian Sainte-Rose; Anne-Sophie Veillard; Michel ZERAH; Felipe Andreiuolo; Nathalie Boddaert; Marie Bourgeois; Federico DiRocco; François Doz; Mathew Garnett; Jacques Grill; Catherine Miquel; Pascale Varlet
Neuropathological and neuroradiological spectrum of pediatric malignant gliomas: correlation with outcome.
Neurosurgery 2011;69(1):215-24.
2011: Pierre Frange; Régis Peffault de Latour; Cécile Arnaud; Nathalie Boddaert; Mehdi Oualha; Véronique Avettand-Fenoel; Françoise Bernaudin; Claire Aguilar; Christine Barnerias; Marianne Leruez-Ville; Fabien Touzot; Olivier Lortholary; Alain Fischer; Stéphane Blanche
Adenoviral infection presenting as an isolated central nervous system disease without detectable viremia in two children after stem cell transplantation.
Journal of clinical microbiology 2011;49(6):2361-4.
2011: Tangui Le Guen; Yann Fichou; Juliette Nectoux; Nadia Bahi-Buisson; François Rivier; Nathalie Boddaert; Bertrand Diebold; Delphine Héron; Jamel Chelly; Thierry Bienvenu
A missense mutation within the fork-head domain of the forkhead box G1 Gene (FOXG1) affects its nuclear localization.
Human mutation 2011;32(2):E2026-35.
2011: Tangui Le Guen; Nadia Bahi-Buisson; Juliette Nectoux; Nathalie Boddaert; Yann Fichou; Bertrand Diebold; Isabelle Desguerre; Florence Raqbi; Valérie Cormier Daire; Jamel Chelly; Thierry Bienvenu
A FOXG1 mutation in a boy with congenital variant of Rett syndrome.
Neurogenetics 2011;12(1):1-8.
2011: Laurence Vaivre-Douret; Bernard Golse; Isabelle Ingster-Moati; Christophe Lalanne; Nathalie Boddaert; Dominique Cabrol; Jean-Louis Dufier; Bruno Falissard
Subtypes of developmental coordination disorder: research on their nature and etiology.
Developmental neuropsychology 2011;36(5):614-43.
2010: Karine Poirier; Yoann Saillour; Nadia Bahi-Buisson; Xavier H Jaglin; Catherine Fallet-Bianco; Rima Nabbout; Laetitia Castelnau-Ptakhine; Agathe Roubertie; Tania Attie-Bitach; Isabelle Desguerre; David Genevieve; Christine Barnerias; Boris Keren; Nicolas Lebrun; Nathalie Boddaert; Féréchté Encha-Razavi; Jamel Chelly
Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects.
Human molecular genetics 2010;19(22):4462-73.
2010: Nadia Bahi-Buisson; Karine Poirier; Nathalie Boddaert; Catherine Fallet-Bianco; Nicola Specchio; Enrico Bertini; Okay Caglayan; Karine Lascelles; Caroline Elie; Jérôme Rambaud; Michel Baulac; Isabelle An; Patricia Dias; Vincent des Portes; Marie-Laure Moutard; Christine Soufflet; Monique El Maleh; Cherif Beldjord; Laurent Villard; Jamel Chelly
GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex.
Brain : a journal of neurology 2010;133(11):3194-209.
2010: Nathalie Boddaert; Isabelle Desguerre; Nadia Bahi-Buisson; S Romano; Vassili Valayannopoulos; Yoann Saillour; David J Seidenwurm; D Grevent; L Berteloot; A-S Lebre; M Zilbovicius; S Puget; Rémi Salomon; T Attie-Bitach; Arnold Munnich; F Brunelle; Pascale de Lonlay
Posterior fossa imaging in 158 children with ataxia.
Journal of neuroradiology. Journal de neuroradiologie 2010;37(4):220-30.
2010: M Rio; A S Lebre; Pascale de Lonlay; Vassili Valayannopoulos; Isabelle Desguerre; J-L Dufier; D Grévent; Mônica Zilbovicius; C Tréguier; F Brunelle; C de Baracé; J Kaplan; M A Espinase-Berrod; Christian Sainte-Rose; Stephanie PUGET; A Rotig; Arnold Munnich; Nathalie Boddaert
Mitochondrial ND5 mutations mimicking brainstem tectal glioma.
Neurology 2010;75(1):93.
2010: Manoelle Kossorotoff; Coralie Gonin-Flambois; Cyril Gitiaux; Susana Quijano; Nathalie Boddaert; Nadia Bahi-Buisson; Christine Barnerias; Olivier Dulac; Francis Brunelle; Isabelle Desguerre
A cognitive and affective pattern in posterior fossa strokes in children: a case series.
Developmental medicine and child neurology 2010;52(7):626-31.
2010: Sandra El Sabbagh; Anne-Sophie Lebre; Nadia Bahi-Buisson; Pascale DeLonlay; Christine Soufflet; Nathalie Boddaert; Marlène Rio; Agnès Rötig; Olivier Dulac; Arnold Munnich; Isabelle Desguerre
Epileptic phenotypes in children with respiratory chain disorders.
Epilepsia 2010;51(7):1225-35.
2010: Vassili Valayannopoulos; Coralie Haudry; Valérie Serre; Magalie Barth; Nathalie Boddaert; Jean-Baptiste Arnoux; Valérie Cormier-Daire; Marlène Rio; Daniel Rabier; Anne Vassault; Arnold Munnich; Jean-Paul Bonnefont; Pascale de Lonlay; Agnès Rötig; Anne-Sophie Lebre
New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria.
Mitochondrion 2010;10(4):335-41.
2010: Vassili Valayannopoulos; Nathalie Boddaert; V Barbier; Martine Le Merrer; C Caillaud; Pascale de Lonlay
Cognitive and neuroradiological improvement in three patients with attenuated MPS I treated by laronidase.
Molecular genetics and metabolism 2010;100(1):20-3.
2010: Nadia Bahi-Buisson; Juliette Nectoux; Benoit Girard; Hilde Van Esch; Thomy De Ravel; Nathalie Boddaert; Perrine Plouin; Marlene Rio; Yann Fichou; Jamel Chelly; Thierry Bienvenu
Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant.
Neurogenetics 2010;11(2):241-9.
2010: M Chipaux; N Villeneuve; P Sabouraud; I Desguerre; Nathalie Boddaert; Christel Depienne; Catherine Chiron; Olivier Dulac; Rima Nabbout
Unusual consequences of status epilepticus in Dravet syndrome.
Seizure : the journal of the British Epilepsy Association 2010;19(3):190-4.
2010: Philippe Campeau; Vassili Valayannopoulos; Guy Touati; Nadia Bahi-Buisson; Nathalie Boddaert; Perrine Plouin; Daniel Rabier; Jean-François Benoist; Olivier Dulac; Pascale de Lonlay; Isabelle Desguerre
Management of West syndrome in a patient with methylmalonic aciduria.
Journal of child neurology 2010;25(1):94-7.
2009: Yoann Saillour; Nathalie Carion; Chloé Quelin; Pierre-Louis Leger; Nathalie Boddaert; Caroline Elie; Annick Toutain; Sandra Mercier; Marie-Anne Barthez; Mathieu Milh; Sylvie Joriot; Vincent des Portes; Nicole Philip; Dominique Broglin; Agathe Roubertie; Gaelle Pitelet; Marie-Laure Moutard; Jean-Marc Pinard; Claude Cances; Anna Kaminska; Jamel Chelly; Cherif Beldjord; Nadia Bahi-Buisson
LIS1-related isolated lissencephaly: spectrum of mutations and relationships with malformation severity.
Archives of neurology 2009;66(8):1007-15.
2009: N Brahimi; M Jambou; Emmanuelle Sarzi; Valérie Serre; Nathalie Boddaert; S Romano; Pascale de Lonlay; Abdelhamid Slama; Arnold Munnich; Agnès Rötig; Jean-Paul Bonnefont; A S Lebre
The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome.
Molecular genetics and metabolism 2009;97(3):221-6.
2009: Sylvain Hanein; Isabelle Perrault; Olivier Roche; Sylvie Gerber; Noman Khadom; Marlène Rio; Nathalie Boddaert; Marc Jean-Pierre; Nora Brahimi; Valérie Serre; Dominique Chretien; Nathalie Delphin; Lucas Fares-Taie; Sahran Lachheb; Agnès Rotig; Françoise Meire; Arnold Munnich; Jean-Louis Dufier; Josseline Kaplan; Jean-Michel Rozet
TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy.
American journal of human genetics 2009;84(4):493-8.
2009: Marta Bertoli; Nathalie Boddaert; Odile Raoul; Jeanne Amiel; Stanislas LYONNET
Sporadic case of unusual facies, cerebral vascular anomalies and developmental delay.
Clinical dysmorphology 2009;18(2):110-1.
2009: Francis Brunelle; Nathalie Boddaert; Monica Zilbovicius
[Autism and brain imaging].
Bulletin de l'Académie nationale de médecine 2009;193(2):287-97; discussion 297-8.
2008: Cyril Gitiaux; Emmanuel Roze; Kiyoka Kinugawa; Constance Flamand-Rouvière; Nathalie Boddaert; Emmanuelle Apartis; Vassili Valayannopoulos; Guy Touati; Jacques Motte; David Devos; Karine Mention; Dries Dobbelaere; Diana Rodriguez; Agathe Roubertie; Brigitte Chabrol; François Feillet; Marie Vidailhet; Nadia Bahi-Buisson
Spectrum of movement disorders associated with glutaric aciduria type 1: a study of 16 patients.
Movement disorders : official journal of the Movement Disorder Society 2008;23(16):2392-7.
2008: Nadia Bahi-Buisson; K Poirier; Nathalie Boddaert; Yoann Saillour; L Castelnau; N Philip; G Buyse; L Villard; Sylvie Joriot; S Marret; M Bourgeois; H Van Esch; L Lagae; Jeanne Amiel; Lucie Hertz-Pannier; A Roubertie; F Rivier; J M Pinard; Cherif Beldjord; Jamel Chelly
Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations.
Journal of medical genetics 2008;45(10):647-53.
2008: Pierre-Louis Leger; Isabelle Souville; Nathalie Boddaert; Caroline Elie; Jean Marc Pinard; Perrine Plouin; Marie-Laure Moutard; Vincent des Portes; Hilde Van Esch; Sylvie Joriot; Jean Louis Renard; Jamel Chelly; Fiona Francis; Cherif Beldjord; Nadia Bahi-Buisson
The location of DCX mutations predicts malformation severity in X-linked lissencephaly.
Neurogenetics 2008;9(4):277-85.
2008: Nadia Bahi-Buisson; Sandra El Sabbagh; Christine Soufflet; Fabienne Escande; Nathalie Boddaert; Vassili Valayannopoulos; Christine Bellané-Chantelot; Karine Lascelles; Olivier Dulac; Perrine Plouin; Pascale de Lonlay
Myoclonic absence epilepsy with photosensitivity and a gain of function mutation in glutamate dehydrogenase.
Seizure : the journal of the British Epilepsy Association 2008;17(7):658-64.
2008: Anne Philippe; Nathalie Boddaert; Laurence Vaivre-Douret; Laurence Robel; Laurent Danon-Boileau; valerie malan; Marie-Christine De Blois; Delphine Heron; Laurence Colleaux; Bernard Golse; Monica Zilbovicius; Arnold Munnich
Neurobehavioral profile and brain imaging study of the 22q13.3 deletion syndrome in childhood.
Pediatrics 2008;122(2):e376-82.
2008: Karine Poirier; Monika Eisermann; Isabelle Caubel; Anna Kaminska; Sylviane Peudonnier; Nathalie Boddaert; Yoann Saillour; Olivier Dulac; Isabelle Souville; Cherif Beldjord; Karine Lascelles; Perrine Plouin; Jamel Chelly; Nadia Bahi-Buisson
Combination of infantile spasms, non-epileptic seizures and complex movement disorder: a new case of ARX-related epilepsy.
Epilepsy research 2008;80(2-3):224-8.
2008: Christine Barnerias; Nathalie Boddaert; Pascale Guiraud; Guiraud Pascale; Isabelle Desguerre; Desguerre Isabelle; Lucie Hertz-Pannier; Olivier Dulac; Pascale de Lonlay; Nadia Bahi-Buisson
Unusual magnetic resonance imaging features in Menkes disease.
Brain & development 2008;30(7):489-92.
2008: Guntram Borck; Anahi Mollà-Herman; Nathalie Boddaert; Férechté Encha-Razavi; Anne Philippe; Laurence Robel; Isabelle Desguerre; Francis Brunelle; Alexandre Benmerah; Arnold Munnich; Laurence Colleaux
Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome.
Human mutation 2008;29(7):966-74.
2008: Nadia Bahi-Buisson; Anna Kaminska; Nathalie Boddaert; Marlène Rio; Alexandra Afenjar; Marion Gérard; Fabienne Giuliano; Jacques Motte; Delphine Héron; Marie Ange N'guyen Morel; Perrine Plouin; Christian Richelme; Vincent des Portes; Olivier Dulac; Christophe Philippe; Catherine Chiron; Rima Nabbout; Thierry Bienvenu
The three stages of epilepsy in patients with CDKL5 mutations.
Epilepsia 2008;49(6):1027-37.
2008: Julie Mollet; Agnès Delahodde; Valérie Serre; Dominique Chretien; Dimitri Schlemmer; Anne Lombes; Nathalie Boddaert; Isabelle Desguerre; Pascale de Lonlay; Hélène Ogier de Baulny; Arnold Munnich; Agnès Rötig
CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures.
American journal of human genetics 2008;82(3):623-30.
2008: Isabelle Desguerre; Ixtasu Marti; Vassili Valayannopoulos; Nadia Bahi-Buisson; Olivier Dulac; Perrine Plouin; Pascale DeLonlay; Lucie Hertz-Pannier; Nathalie Boddaert
Transient magnetic resonance diffusion abnormalities in West syndrome: the radiological expression of non-convulsive status epilepticus?
Developmental medicine and child neurology 2008;50(2):112-6.
2008: Marie Bourgeois; Federico Di Rocco; Matthew R Garnett; Brigitte Charron; Nathalie Boddaert; Christine Soufflet; Thomas Roujeau; Michel ZERAH; Christian Sainte-Rose; Perrine Plouin; Dominique Renier
Epilepsy associated with shaken baby syndrome.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2008;24(2):169-72; discussion 173.
2008: Francis Brunelle; Maria Ribeiro; Nathalie Boddaert; Claire Nihoul-Fekete; Francis Jaubert; Jacques Rahier; Pascale de Lonlay
[Hyperinsulinism in children: new concepts - the role of imaging].
Bulletin de l'Académie nationale de médecine 2008;192(1):59-70; discussion 71-2.
2008: Nathalie Boddaert; S Romano; B Funalot; Marlène Rio; Emmanuelle Sarzi; A S Lebre; Nadia Bahi-Buisson; Vassili Valayannopoulos; Isabelle Desguerre; David J Seidenwurm; Francis Brunelle; F Brami-Zylberberg; Agnès Rötig; Arnold Munnich; Pascale de Lonlay
1H MRS spectroscopy evidence of cerebellar high lactate in mitochondrial respiratory chain deficiency.
Molecular genetics and metabolism 2008;93(1):85-8.
2007: Maria-João Ribeiro; Nathalie Boddaert; Christine Bellanné-Chantelot; Sandrine Bourgeois; Vassili Valayannopoulos; thierry delzescaux; Francis Jaubert; Claire Nihoul-Fékété; Francis Brunelle; Pascale de Lonlay
The added value of [18F]fluoro-L-DOPA PET in the diagnosis of hyperinsulinism of infancy: a retrospective study involving 49 children.
European journal of nuclear medicine and molecular imaging 2007;34(12):2120-8.
2007: Bertrand Baussard; Federico Di Rocco; Matthew R Garnett; Nathalie Boddaert; Arielle Lellouch-Tubiana; jacques grill; Stephanie PUGET; Thomas Roujeau; Michel ZERAH; Christian Sainte-Rose
Pediatric infratentorial gangliogliomas: a retrospective series.
Journal of neurosurgery 2007;107(4 Suppl):286-91.
2007: Thomas Roujeau; Guilherme Machado; Matthew R Garnett; Catherine Miquel; Stephanie PUGET; Birgit Geoerger; jacques grill; Nathalie Boddaert; Federico Di Rocco; Michel ZERAH; Christian Sainte-Rose
Stereotactic biopsy of diffuse pontine lesions in children.
Journal of neurosurgery 2007;107(1 Suppl):1-4.
2007: Nathalie Boddaert; Kim Hanh Le Quan Sang; Agnès Rötig; Anne Leroy-Willig; Serge Gallet; Francis Brunelle; Daniel Sidi; Jean-Christophe Thalabard; Arnold Munnich; Ioav Cabantchik
Selective iron chelation in Friedreich ataxia: biologic and clinical implications.
Blood 2007;110(1):401-8.
2007: Stephanie PUGET; Darach Crimmins; Matthew R Garnett; jacques grill; Ricardo Oliveira; Nathalie Boddaert; Alison Wray; Arielle Lelouch-Tubiana; Thomas Roujeau; Federico Di Rocco; Michel ZERAH; Christian Sainte-Rose
Thalamic tumors in children: a reappraisal.
Journal of neurosurgery 2007;106(5 Suppl):354-62.
2007: Jeanne Amiel; Marlène Rio; Loïc de Pontual; Richard Redon; valerie malan; Nathalie Boddaert; Perrine Plouin; Nigel P Carter; Stanislas LYONNET; Arnold Munnich; Laurence Colleaux
Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction.
American journal of human genetics 2007;80(5):988-93.
2007: Kálmán Tory; Tiphanie Lacoste; Lydie Burglen; Vincent Morinière; Nathalie Boddaert; Marie-Alice Macher; Brigitte Llanas; Hubert Nivet; Albert Bensman; Patrick Niaudet; Corinne Antignac; Rémi Salomon; Sophie Saunier
High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations.
Journal of the American Society of Nephrology : JASN 2007;18(5):1566-75.
2007: Lekbir Baala; Sylvain Briault; Heather C Etchevers; Frédéric Laumonnier; Abdelhafid Natiq; Jeanne Amiel; Nathalie Boddaert; Capucine Picard; Aziza Sbiti; Abdellah Asermouh; Tania Attié-Bitach; Férechté Encha-Razavi; Arnold Munnich; abdelaziz sefiani; Stanislas LYONNET
Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis.
Nature genetics 2007;39(4):454-6.
2007: Maria-João Ribeiro; Nathalie Boddaert; thierry delzescaux; Vassili Valayannopoulos; Christine Bellanné-Chantelot; Francis Jaubert; Virginie Verkarre; Claire Nihoul-Fékété; Francis Brunelle; Pascale de Lonlay
Functional imaging of the pancreas: the role of [18F]fluoro-L-DOPA PET in the diagnosis of hyperinsulinism of infancy.
Endocrine development 2007;12():55-66.
2007: Stephanie PUGET; Charles Kondageski; Alison Wray; Nathalie Boddaert; Thomas Roujeau; Federico Di Rocco; Michel ZERAH; Christian Sainte-Rose
Chiari-like tonsillar herniation associated with intracranial hypotension in Marfan syndrome. Case report.
Journal of neurosurgery 2007;106(1 Suppl):48-52.
2007: Lekbir Baala; Stephane Romano; Rana Khaddour; Sophie Saunier; Ursula M Smith; Sophie Audollent; Catherine Ozilou; Laurence Faivre; Nicole Laurent; Bernard Foliguet; Arnold Munnich; Stanislas LYONNET; Rémi Salomon; Férechté Encha-Razavi; Marie-Claire Gubler; Nathalie Boddaert; Pascale de Lonlay; Colin A Johnson; Michel Vekemans; Corinne Antignac; Tania Attie-Bitach
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.
American journal of human genetics 2007;80(1):186-94.
2006: Christian Sainte-Rose; Ricardo Oliveira; Stephanie PUGET; Liana Beni-Adani; Nathalie Boddaert; John Thorne; Alison Wray; Michel ZERAH; Marie Bourgeois
Multiple bur hole surgery for the treatment of moyamoya disease in children.
Journal of neurosurgery 2006;105(6 Suppl):437-43.
2006: Irina Giurgea; Christine Sempoux; Christine Bellanné-Chantelot; Maria Ribeiro; Laurence Hubert; Nathalie Boddaert; Jean-Marie Saudubray; Jean-Jacques Robert; Francis Brunelle; Jacques Rahier; Francis Jaubert; Claire Nihoul-Fékété; Pascale de Lonlay
The Knudson's two-hit model and timing of somatic mutation may account for the phenotypic diversity of focal congenital hyperinsulinism.
The Journal of clinical endocrinology and metabolism 2006;91(10):4118-23.
2006: Mônica Zilbovicius; Isabelle Meresse; Nadia Chabane; Francis Brunelle; Yves Samson; Nathalie Boddaert
Autism, the superior temporal sulcus and social perception.
Trends in neurosciences 2006;29(7):359-66.
2006: Mônica Zilbovicius; Isabelle Meresse; Nathalie Boddaert
[Autism: neuroimaging].
Revista brasileira de psiquiatria (São Paulo, Brazil : 1999) 2006;28 Suppl 1():S21-8.
2006: Nathalie Boddaert; Fanny Mochel; Isabelle Meresse; David J Seidenwurm; Arnaud Cachia; Francis Brunelle; Stanislas LYONNET; Mônica Zilbovicius
Parieto-occipital grey matter abnormalities in children with Williams syndrome.
NeuroImage 2006;30(3):721-5.
2006: Christine Barnérias; Irina Giurgea; Lucie Hertz-Pannier; Nadia Bahi-Buisson; Nathalie Boddaert; Pierre Rustin; Agnés Rotig; Isabelle Desguerre; Arnold Munnich; Pascale de Lonlay
Respiratory chain deficiency in a female with Aicardi-Goutières syndrome.
Developmental medicine and child neurology 2006;48(3):227-30.
2006: Pascale de Lonlay; Aurore Simon-Carre; Maria-João Ribeiro; Nathalie Boddaert; Irina Giurgea; Kathleen Laborde; Christine Bellanné-Chantelot; Virginie Verkarre; Michel Polak; Jacques Rahier; André Syrota; David J Seidenwurm; Claire Nihoul-Fékété; Jean-Jacques Robert; Francis Brunelle; Francis Jaubert
Congenital hyperinsulinism: pancreatic [18F]fluoro-L-dihydroxyphenylalanine (DOPA) positron emission tomography and immunohistochemistry study of DOPA decarboxylase and insulin secretion.
The Journal of clinical endocrinology and metabolism 2006;91(3):933-40.
2006: S Romano; Nathalie Boddaert; Isabelle Desguerre; Laurence Hubert; R Salomon; David J Seidenwurm; Nadia Bahi-Buisson; Rima Nabbout; Pascale Sonigo; Stanislas LYONNET; Francis Brunelle; Arnold Munnich; Pascale de Lonlay
Molar tooth sign and superior vermian dysplasia: a radiological, clinical, and genetic study.
Neuropediatrics 2006;37(1):42-5.
2006: Fanny Mochel; A-G Grébille; alexandra benachi; Jelena Martinovic; F Razavi; Daniel Rabier; Isabelle Simon; Nathalie Boddaert; Francis Brunelle; Pascale Sonigo
Contribution of fetal MR imaging in the prenatal diagnosis of Zellweger syndrome.
AJNR. American journal of neuroradiology 2006;27(2):333-6.
2005: Nadia Bahi-Buisson; Manoelle Kossorotoff; Christine Barnerias; Nathalie Boddaert; Marie Bourgeois; Olivier Dulac; Perrine Plouin; Catherine Chiron; Lucie Hertz-Pannier
Atypical case of hemiconvulsions-hemiplegia-epilepsy syndrome revealing contralateral focal cortical dysplasia.
Developmental medicine and child neurology 2005;47(12):830-4.
2005: Nathalie Boddaert; Maria Ribeiro; Guy Touati; Karine Mention; Vassili Valayanopoulos; Claire Nihoul-Fékété; Francis Brunelle; Pascale de Lonlay
[Radiological innovations in the screening and diagnosis of the inborn errors of metabolism].
Médecine sciences : M/S 2005;21(11):981-6.
2005: Irina Giurgea; Maria-João Ribeiro; Nathalie Boddaert; Guy Touati; Jean-Jacques Robert; J-M Saudubray; Francis Jaubert; Christine Bellanné-Chantelot; Francis Brunelle; Claire Nihoul-Fékété; Pascale de Lonlay
[Congenital hyperinsulinism in newborn and infant].
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 2005;12(11):1628-35.
2005: Arielle Lellouch-Tubiana; Nathalie Boddaert; Marie Bourgeois; Martine Fohlen; Anne Jouvet; Olivier Delalande; David J Seidenwurm; Françis Brunelle; Christian Sainte-Rose
Angiocentric neuroepithelial tumor (ANET): a new epilepsy-related clinicopathological entity with distinctive MRI.
Brain pathology (Zurich, Switzerland) 2005;15(4):281-6.
2005: Isabelle Gendry Meresse; Mônica Zilbovicius; Nathalie Boddaert; Laurence Robel; Anne Philippe; Ignacio Sfaello; Laurence Laurier; Francis Brunelle; Yves Samson; Marie-Christine Mouren; Nadia Chabane
Autism severity and temporal lobe functional abnormalities.
Annals of neurology 2005;58(3):466-9.
2005: Christian Sainte-Rose; Stephanie PUGET; Alison Wray; Michel ZERAH; jacques grill; Raja Brauner; Nathalie Boddaert; Alain Pierre-Kahn
Craniopharyngioma: the pendulum of surgical management.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2005;21(8-9):691-5.
2005: Nathalie Boddaert; Catherine Barthélémy; Jean-Baptiste Poline; Yves Samson; Francis Brunelle; Mônica Zilbovicius
Autism: functional brain mapping of exceptional calendar capacity.
The British journal of psychiatry : the journal of mental science 2005;187():83-6.
2005: Maria-João Ribeiro; Pascale de Lonlay; thierry delzescaux; Nathalie Boddaert; Francis Jaubert; Sandrine Bourgeois; Frédéric Dollé; Claire Nihoul-Fékété; André Syrota; Francis Brunelle
Characterization of hyperinsulinism in infancy assessed with PET and 18F-fluoro-L-DOPA.
Journal of nuclear medicine : official publication, Society of Nuclear Medicine 2005;46(4):560-6.
2005: Anne Jouvet; Arielle Lellouch-Tubiana; Nathalie Boddaert; Michel ZERAH; Jacques Champier; Michelle Fèvre-Montange
Fourth ventricle neurocytoma with lipomatous and ependymal differentiation.
Acta neuropathologica 2005;109(3):346-51.
2004: Nathalie Boddaert; Nadia Chabane; Pascal Belin; Marie Bourgeois; Vincent Royer; Catherine Barthelemy; Marie-Christine Mouren-Simeoni; Anne Philippe; Francis Brunelle; Yves Samson; Mônica Zilbovicius
Perception of complex sounds in autism: abnormal auditory cortical processing in children.
The American journal of psychiatry 2004;161(11):2117-20.
2004: Nathalie Boddaert; Nadia Chabane; H Gervais; C D Good; Marie Bourgeois; Marie Hélène Plumet; Catherine Barthélémy; Marie-Christine Mouren; Eric Artiges; Yves Samson; Francis Brunelle; Richard S J Frackowiak; Mônica Zilbovicius
Superior temporal sulcus anatomical abnormalities in childhood autism: a voxel-based morphometry MRI study.
NeuroImage 2004;23(1):364-9.
2004: Hélène Gervais; Pascal Belin; Nathalie Boddaert; Marion Leboyer; Arnaud Coez; Ignacio Sfaello; Catherine Barthélémy; Francis Brunelle; Yves Samson; Mônica Zilbovicius
Abnormal cortical voice processing in autism.
Nature neuroscience 2004;7(8):801-2.
2004: Nathalie Boddaert; H De Leersnyder; Marie Bourgeois; A Munnich; Francis Brunelle; Mônica Zilbovicius
Anatomical and functional brain imaging evidence of lenticulo-insular anomalies in Smith Magenis syndrome.
NeuroImage 2004;21(3):1021-5.
2004: Vincent des Portes; Nathalie Boddaert; Silvia Sacco; Sylvain Briault; Kim Maincent; Nadia Bahi; Marie Gomot; Nathalie Ronce; Joseph Bursztyn; Catherine Adamsbaum; Mônica Zilbovicius; Jamel Chelly; Claude Moraine
Specific clinical and brain MRI features in mentally retarded patients with mutations in the Oligophrenin-1 gene.
American journal of medical genetics. Part A 2004;124A(4):364-71.
2003: Nathalie Boddaert; Pascal Belin; Nadia Chabane; Jean-Baptiste Poline; Catherine Barthélémy; Marie-Christine Mouren-Simeoni; Francis Brunelle; Yves Samson; Mônica Zilbovicius
Perception of complex sounds: abnormal pattern of cortical activation in autism.
The American journal of psychiatry 2003;160(11):2057-60.
2003: O Klein; Alain Pierre-Kahn; Nathalie Boddaert; D Parisot; Francis Brunelle
Dandy-Walker malformation: prenatal diagnosis and prognosis.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2003;19(7-8):484-9.
2003: Arnaud Cachia; jean-francois mangin; Denis Rivière; ferath kherif; Nathalie Boddaert; A Andrade; Dimitri Papadopoulos-Orfanos; Jean-Baptiste Poline; I Bloch; Mônica Zilbovicius; P Sonigo; Francis Brunelle; Jean Régis
A primal sketch of the cortex mean curvature: a morphogenesis based approach to study the variability of the folding patterns.
IEEE transactions on medical imaging 2003;22(6):754-65.
2003: Nathalie Boddaert; O Klein; N Ferguson; Pascale Sonigo; D Parisot; Lucie Hertz-Pannier; J Baraton; Sophie Emond; Isabelle Simon; Valérie Chigot; Pierre Schmit; Alain Pierre-Kahn; Francis Brunelle
Intellectual prognosis of the Dandy-Walker malformation in children: the importance of vermian lobulation.
Neuroradiology 2003;45(5):320-4.
2002: Latifa Chat; Lucie Hertz-Pannier; Olivier Roche; Nathalie Boddaert; J Baraton; Francis Brunelle
[Value of MRI in the diagnosis of unilateral optic nerve aplasia: a case report].
Journal de radiologie 2002;83(12 Pt 1):1853-5.
2002: Nathalie Boddaert; Nadia Chabane; C Barthélemy; Marie Bourgeois; Jean-Baptiste Poline; Francis Brunelle; Yves Samson; Mônica Zilbovicius
[Bitemporal lobe dysfonction in infantile autism: positron emission tomography study].
Journal de radiologie 2002;83(12 Pt 1):1829-33.
2002: Nathalie Boddaert; Mônica Zilbovicius
Functional neuroimaging and childhood autism.
Pediatric radiology 2002;32(1):1-7.
2001: Yves Samson; Pascal Belin; Lionel Thivard; Nathalie Boddaert; S Crozier; Mônica Zilbovicius
[Auditory perception and language: functional imaging of speech sensitive auditory cortex].
Revue neurologique 2001;157(8-9 Pt 1):837-46.
2000: Mônica Zilbovicius; Nathalie Boddaert; Pascal Belin; Jean-Baptiste Poline; P Remy; jean-francois mangin; Lionel Thivard; Catherine Barthélémy; Yves Samson
Temporal lobe dysfunction in childhood autism: a PET study. Positron emission tomography.
The American journal of psychiatry 2000;157(12):1988-93.
2000: Francis Brunelle; J Baraton; D Renier; D Teillac; Isabelle Simon; Pascale Sonigo; Lucie Hertz-Pannier; Sophie Emond; Nathalie Boddaert; Valérie Chigot; Arielle Lellouch-Tubiana
Intracranial venous anomalies associated with atretic cephalocoeles.
Pediatric radiology 2000;30(11):743-7.