Works by Boddaert, Nathalie

Results: 197

Epileptic spasms in congenital disorders of glycosylation.

Published in:

Epileptic Disorders, 2017, v. 19, n. 1, p. 15, doi. 10.1684/epd.2017.0901

By:

Pereira, Andreia G.;
Bahi-Buisson, Nadia;
Barnerias, Christine;
Boddaert, Nathalie;
Nabbout, Rima;
de Lonlay, Pascale;
Kaminska, Anna;
Eisermann, Monika

Publication type:

Article

Mosaicism in ATP1A3-related disorders: not just a theoretical risk.

Published in:

Neurogenetics, 2017, v. 18, n. 1, p. 23, doi. 10.1007/s10048-016-0498-9

By:

Hully, Marie;
Ropars, Juliette;
Hubert, Laurence;
Boddaert, Nathalie;
Rio, Marlene;
Bernardelli, Mathieu;
Desguerre, Isabelle;
Cormier-Daire, Valerie;
Munnich, Arnold;
Lonlay, Pascale;
Reilly, Louise;
Besmond, Claude;
Bahi-Buisson, Nadia

Publication type:

Article

Recurrent KIF5C mutation leading to frontal pachygyria without microcephaly.

Published in:

2016

By:

Cavallin, Mara;
Hubert, Laurence;
Cantagrel, Vincent;
Munnich, Arnold;
Boddaert, Nathalie;
Vincent-Delorme, Catherine;
Cuvellier, Jean;
Masson, Cecile;
Besmond, Claude;
Bahi-Buisson, Nadia

Publication type:

Letter

Mosaic DCX deletion causes subcortical band heterotopia in males.

Published in:

Neurogenetics, 2012, v. 13, n. 4, p. 367, doi. 10.1007/s10048-012-0339-4

By:

Quélin, Chloé;
Saillour, Yoann;
Souville, Isabelle;
Poirier, Karine;
N'Guyen-Morel, Marie;
Vercueil, Laurent;
Millisher-Bellaiche, Anne;
Boddaert, Nathalie;
Dubois, Fanny;
Chelly, Jamel;
Beldjord, Cherif;
Bahi-Buisson, Nadia

Publication type:

Article

A FOXG1 mutation in a boy with congenital variant of Rett syndrome.

Published in:

Neurogenetics, 2011, v. 12, n. 1, p. 1, doi. 10.1007/s10048-010-0255-4

By:

Guen, Tangui;
Bahi-Buisson, Nadia;
Nectoux, Juliette;
Boddaert, Nathalie;
Fichou, Yann;
Diebold, Bertrand;
Desguerre, Isabelle;
Raqbi, Florence;
Daire, Valérie;
Chelly, Jamel;
Bienvenu, Thierry

Publication type:

Article

Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant.

Published in:

Neurogenetics, 2010, v. 11, n. 2, p. 241, doi. 10.1007/s10048-009-0220-2

By:

Bahi-Buisson, Nadia;
Nectoux, Juliette;
Girard, Benoit;
Esch, Hilde;
Ravel, Thomy;
Boddaert, Nathalie;
Plouin, Perrine;
Rio, Marlene;
Fichou, Yann;
Chelly, Jamel;
Bienvenu, Thierry

Publication type:

Article

The location of DCX mutations predicts malformation severity in X-linked lissencephaly.

Published in:

Neurogenetics, 2008, v. 9, n. 4, p. 277, doi. 10.1007/s10048-008-0141-5

By:

Leger, Pierre-Louis;
Souville, Isabelle;
Boddaert, Nathalie;
Elie, Caroline;
Pinard, Jean;
Plouin, Perrine;
Moutard, Marie;
Portes, Vincent;
Esch, Hilde;
Joriot, Sylvie;
Renard, Jean;
Chelly, Jamel;
Francis, Fiona;
Beldjord, Cherif;
Bahi-Buisson, Nadia

Publication type:

Article

Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations.

Published in:

Human Mutation, 2020, v. 41, n. 2, p. 397, doi. 10.1002/humu.23937

By:

Barcia, Giulia;
Rio, Marlène;
Assouline, Zahra;
Zangarelli, Coralie;
Gueguen, Naig;
Dumas, Valerie D.;
Marcorelles, Pascale;
Schiff, Manuel;
Slama, Abdelhamid;
Barth, Magalie;
Hully, Marie;
Lonlay, Pascale;
Munnich, Arnold;
Desguerre, Isabelle;
Bonnefont, Jean‐Paul;
Steffann, Julie;
Procaccio, Vincent;
Boddaert, Nathalie;
Rötig, Agnès;
Metodiev, Metodi D.

Publication type:

Article

Inhibition of mitochondrial translation in fibroblasts from a patient expressing the KARS p.(Pro228Leu) variant and presenting with sensorineural deafness, developmental delay, and lactic acidosis.

Published in:

Human Mutation, 2018, v. 39, n. 12, p. 2047, doi. 10.1002/humu.23657

By:

Ruzzenente, Benedetta;
Assouline, Zahra;
Barcia, Giulia;
Rio, Marlène;
Boddaert, Nathalie;
Munnich, Arnold;
Rötig, Agnès;
Metodiev, Metodi D.

Publication type:

Article

Genotype–phenotype correlations in individuals with pathogenic <italic>RERE</italic> variants.

Published in:

Human Mutation, 2018, v. 39, n. 5, p. 666, doi. 10.1002/humu.23400

By:

Jordan, Valerie K.;
Fregeau, Brieana;
Ge, Xiaoyan;
Giordano, Jessica;
Wapner, Ronald J.;
Balci, Tugce B.;
Carter, Melissa T.;
Bernat, John A.;
Moccia, Amanda N.;
Srivastava, Anshika;
Martin, Donna M.;
Bielas, Stephanie L.;
Pappas, John;
Svoboda, Melissa D.;
Rio, Marlène;
Boddaert, Nathalie;
Cantagrel, Vincent;
Lewis, Andrea M.;
Scaglia, Fernando;
Undiagnosed Diseases Network

Publication type:

Article

A Homozygous PDE6 D Mutation in Joubert Syndrome Impairs Targeting of Farnesylated INPP5 E Protein to the Primary Cilium.

Published in:

Human Mutation, 2014, v. 35, n. 1, p. 137, doi. 10.1002/humu.22470

By:

Thomas, Sophie;
Wright, Kevin J.;
Corre, Stéphanie Le;
Micalizzi, Alessia;
Romani, Marta;
Abhyankar, Avinash;
Saada, Julien;
Perrault, Isabelle;
Amiel, Jeanne;
Litzler, Julie;
Filhol, Emilie;
Elkhartoufi, Nadia;
Kwong, Mandy;
Casanova, Jean‐Laurent;
Boddaert, Nathalie;
Baehr, Wolfgang;
Lyonnet, Stanislas;
Munnich, Arnold;
Burglen, Lydie;
Chassaing, Nicolas

Publication type:

Article

Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy.

Published in:

Human Mutation, 2011, v. 32, n. 11, p. 1225, doi. 10.1002/humu.21562

By:

Galmiche, Louise;
Serre, Valérie;
Beinat, Marine;
Assouline, Zahra;
Lebre, Anne-Sophie;
Chretien, Dominique;
Nietschke, Patrick;
Benes, Vladimir;
Boddaert, Nathalie;
Sidi, Daniel;
Brunelle, Francis;
Rio, Marlène;
Munnich, Arnold;
Rötig, Agnès

Publication type:

Article

Clinical and biochemical heterogeneity associated with fumarase deficiency.

Published in:

Human Mutation, 2011, v. 32, n. 9, p. 1046, doi. 10.1002/humu.21534

By:

Ottolenghi, Chris;
Hubert, Laurence;
Allanore, Yannick;
Brassier, Anais;
Altuzarra, Cécilia;
Mellot-Draznieks, Caroline;
Bekri, Soumeya;
Goldenberg, Alice;
Veyrieres, Severine;
Boddaert, Nathalie;
Barbier, Valérie;
Valayannopoulos, Vassili;
Slama, Abdelhamid;
Chrétien, Dominique;
Ricquier, Daniel;
Marret, Stéphane;
Frebourg, Thierry;
Rabier, Daniel;
Munnich, Arnold;
de Keyzer, Yves

Publication type:

Article

Germline gain-of-function mutations of ALK disrupt central nervous system development.

Published in:

Human Mutation, 2011, v. 32, n. 3, p. 272, doi. 10.1002/humu.21442

By:

De Pontual, Loïc;
Kettaneh, Dania;
Gordon, Christopher T.;
Oufadem, Myriam;
Boddaert, Nathalie;
Lees, Melissa;
Balu, Laurent;
Lachassinne, Eric;
Petros, Andy;
Mollet, Julie;
Wilson, Louise C.;
Munnich, Arnold;
Brugière, Laurence;
Delattre, Olivier;
Vekemans, Michel;
Etchevers, Heather;
Lyonnet, Stanislas;
Janoueix-Lerosey, Isabelle;
Amiel, Jeanne

Publication type:

Article

A missense mutation within the fork-head domain of the forkhead box G1 Gene (FOXG1) affects its nuclear localization.

Published in:

Human Mutation, 2011, v. 32, n. 2, p. E2026, doi. 10.1002/humu.21422

By:

Tangui Le Guen;
Yann Fichou;
Nectoux, Juliette;
Bahi-Buisson, Nadia;
Rivier, François;
Boddaert, Nathalie;
Diebold, Bertrand;
Héron, Delphine;
Chelly, Jamel;
Bienvenu, Thierry

Publication type:

Article

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome.

Published in:

Human Mutation, 2009, v. 30, n. 4, p. 669, doi. 10.1002/humu.20935

By:

de Pontual, Loïc;
Mathieu, Yves;
Golzio, Christelle;
Rio, Marlène;
Malan, Valérie;
Boddaert, Nathalie;
Soufflet, Christine;
Picard, Capucine;
Durandy, Anne;
Dobbie, Angus;
Heron, Delphine;
Isidor, Bertrand;
Motte, Jacques;
Newburry-Ecob, Ruth;
Pasquier, Laurent;
Tardieu, Marc;
Viot, Géraldine;
Jaubert, Francis;
Munnich, Arnold;
Colleaux, Laurence

Publication type:

Article

Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome.

Published in:

Human Mutation, 2008, v. 29, n. 7, p. 966, doi. 10.1002/humu.20531

By:

Borck, Guntram;
Mollà-Herman, Anahi;
Boddaert, Nathalie;
Encha-Razavi, Férechté;
Philippe, Anne;
Robel, Laurence;
Desguerre, Isabelle;
Brunelle, Francis;
Benmerah, Alexandre;
Munnich, Arnold;
Colleaux, Laurence

Publication type:

Article

"Perimortem" total body CT-scan examination in severely injured children: an informative insight into the causes of death.

Published in:

International Journal of Legal Medicine, 2020, v. 134, n. 2, p. 625, doi. 10.1007/s00414-019-02058-5

By:

Antúnez, Sue;
Grevent, David;
Boddaert, Nathalie;
Vergnaud, Estelle;
Vecchione, Antonio;
Ferrant-Azoulay, Ophélie;
Orliaguet, Gilles;
Meyer, Philippe G.

Publication type:

Article

Radiation-free and injection-free imaging of the paediatric chest using a magnetic resonance imaging protocol including zero time echo sequence (3D-ZTE).

Published in:

European Journal of Pediatrics, 2024, v. 183, n. 10, p. 4297, doi. 10.1007/s00431-024-05678-1

By:

Drummond, David;
Marquant, Fabienne;
Zanelli, Elisa;
Lozach, Cécile;
Boddaert, Nathalie;
Taam, Rola Abou;
Neven, Bénédicte;
Le Bourgeois, Muriel;
Hadchouel, Alice;
Sarnacki, Sabine;
Elie, Caroline;
Delacourt, Christophe;
Berteloot, Laureline

Publication type:

Article

Aortic atresia and interrupted aortic arch communicating through external carotid anastomosis.

Published in:

2019

By:

Dangouloff-Ros, Volodia;
Boddaert, Nathalie;
Raimondi, Francesca

Publication type:

journal article

Abnormal Interhemispheric Synchrony in Neonatal Hypoxic-Ischemic Encephalopathy: A Retrospective Pilot Study.

Published in:

Neonatology (16617800), 2017, v. 112, n. 4, p. 359, doi. 10.1159/000478964

By:

Leroy-Terquem, Elise;
Vermersch, anne Isabelle;
Dean, Pauline;
assaf, Ziad;
Boddaert, Nathalie;
Lapillonne, alexandre;
Magny, Jean-François

Publication type:

Article

Predicting endoscopic third ventriculostomy success in pediatric shunt dysfunction: a monocentric retrospective case series of 70 consecutive children, systematic review, and meta-analysis.

Published in:

Journal of Neurosurgery: Pediatrics, 2023, v. 32, n. 6, p. 638, doi. 10.3171/2023.9.PEDS23208

By:

Guida, Lelio;
Grenier-Chartrand, Flavie;
Benichi, Sandro;
James, Syril;
Paternoster, Giovanna;
Bourgeois, Marie;
Dangouloff-Ros, Volodia;
Messina, Antonio;
Boddaert, Nathalie;
Puget, Stéphanie;
Beccaria, Kevin;
Blauwblomme, Thomas

Publication type:

Article

How can we differentiate supratentorial tumor recurrence from postradiation imaging changes in children treated for primary malignant brain tumors?

Published in:

Journal of Neurosurgery: Pediatrics, 2023, v. 32, n. 2, p. 173, doi. 10.3171/2023.3.PEDS22386

By:

Zittoun, Jacob;
Dangouloff-Ros, Volodia;
Cardoen, Liesbeth;
Rutten, Caroline;
Bolle, Stéphanie;
Alapetite, Claire;
Levy, Raphaël;
Grévent, David;
Grill, Jacques;
Brisse, Hervé J.;
Doz, François;
Blauwblomme, Thomas;
Beccaria, Kévin;
Charpy, Sarah;
Roux, Charles-Joris;
Varlet, Pascale;
Dufour, Christelle;
Puget, Stéphanie;
Boddaert, Nathalie

Publication type:

Article

Temporosylvian arachnoid cysts in children. Part 2: Postoperative neuropsychological and clinical improvement.

Published in:

Journal of Neurosurgery: Pediatrics, 2022, v. 30, n. 2, p. 150, doi. 10.3171/2021.11.PEDS21207

By:

Cuny, Marie-Laure;
Piolino, Pascale;
Paternoster, Giovanna;
Piana, Hélène;
Blauwblomme, Thomas;
Beccaria, Kévin;
Bourgeois, Marie;
Stricker, Sarah;
Prodhomme, Julie;
Trousson, Clémence;
Navarro, Béatrice;
Esnault, Eglantine;
Cozzo, Mathilde;
Abram, Maria;
James, Syril;
Boddaert, Nathalie;
Sainte-Rose, Christian;
Vaivre-Douret, Laurence;
Puget, Stephanie

Publication type:

Article

Temporosylvian arachnoid cysts in children. Part 1: Cognitive profile of children with a temporal cyst and impact of the cyst in daily life. A prospective study in 100 consecutive children.

Published in:

Journal of Neurosurgery: Pediatrics, 2022, v. 30, n. 2, p. 138, doi. 10.3171/2021.11.PEDS21203

By:

Cuny, Marie-Laure;
Vaivre-Douret, Laurence;
Piana, Hélène;
Blauwblomme, Thomas;
Beccaria, Kévin;
Paternoster, Giovanna;
Bourgeois, Marie;
James, Syril;
Zerah, Michel;
Prodhomme, Julie;
Esnault, Eglantine;
Cozzo, Mathilde;
Trousson, Clémence;
Navarro, Béatrice;
Stricker, Sarah;
Boddaert, Nathalie;
Sainte-Rose, Christian;
Piolino, Pascale;
Puget, Stephanie

Publication type:

Article

CIC/ATXN1‐rearranged tumors in the central nervous system are mainly represented by sarcomas: A comprehensive clinicopathological and epigenetic series.

Published in:

Brain Pathology, 2025, v. 35, n. 2, p. 1, doi. 10.1111/bpa.13303

By:

Tauziède‐Espariat, Arnault;
Ebrahimi, Azadeh;
Boddaert, Nathalie;
Pietsch, Torsten;
Grajkowska, Wieslawa;
Blau, Tobias;
Koch, Arend;
Sievers, Philipp;
Guillemot, Delphine;
Pierron, Gaëlle;
Uro‐Coste, Emmanuelle;
Nicaise, Yvan;
Siegfried, Aurore;
Gilles, Adam;
Bielle, Franck;
Mokhtari, Karima;
Cazals‐Hatem, Dominique;
Iakovlev, Gueorgui;
Lhermitte, Benoît;
Entz‐Werle, Natacha

Publication type:

Article

A comprehensive histomolecular characterization of meningioangiomatosis: Further evidence for a precursor neoplastic lesion.

Published in:

Brain Pathology, 2024, v. 34, n. 6, p. 1, doi. 10.1111/bpa.13259

By:

Tauziède‐Espariat, Arnault;
Masliah‐Planchon, Julien;
Sievers, Philipp;
Sahm, Felix;
Dangouloff‐Ros, Volodia;
Boddaert, Nathalie;
Hasty, Lauren;
Aboubakr, Oumaima;
Métais, Alice;
Chrétien, Fabrice;
Roux, Alexandre;
Pallud, Johan;
Blauwblomme, Thomas;
Beccaria, Kévin;
Bourdeaut, Franck;
Puget, Stéphanie;
Varlet, Pascale

Publication type:

Article

The pontine diffuse midline glioma, EGFR‐subtype with ependymal features: Yet another face of diffuse midline glioma, H3K27‐altered.

Published in:

Brain Pathology, 2024, v. 34, n. 1, p. 1, doi. 10.1111/bpa.13181

By:

Tauziède‐Espariat, Arnault;
Métais, Alice;
Mariet, Cassandra;
Castel, David;
Grill, Jacques;
Saffroy, Raphaël;
Hasty, Lauren;
Dangouloff‐Ros, Volodia;
Boddaert, Nathalie;
Benichi, Sandro;
Chrétien, Fabrice;
Varlet, Pascale

Publication type:

Article

A comprehensive analysis of infantile central nervous system tumors to improve distinctive criteria for infant‐type hemispheric glioma versus desmoplastic infantile ganglioglioma/astrocytoma.

Published in:

Brain Pathology, 2023, v. 33, n. 5, p. 1, doi. 10.1111/bpa.13182

By:

Tauziède‐Espariat, Arnault;
Beccaria, Kévin;
Dangouloff‐Ros, Volodia;
Sievers, Philipp;
Meurgey, Alexandra;
Pissaloux, Daniel;
Appay, Romain;
Saffroy, Raphaël;
Grill, Jacques;
Mariet, Cassandra;
Bourdeaut, Franck;
Hasty, Lauren;
Métais, Alice;
Chrétien, Fabrice;
Blauwblomme, Thomas;
Puget, Stéphanie;
Boddaert, Nathalie;
Varlet, Pascale

Publication type:

Article

Deciphering the genetic and epigenetic landscape of pediatric bithalamic tumors.

Published in:

Brain Pathology, 2022, v. 32, n. 3, p. 1, doi. 10.1111/bpa.13039

By:

Tauziède‐Espariat, Arnault;
Debily, Marie‐Anne;
Castel, David;
Grill, Jacques;
Puget, Stéphanie;
Roux, Alexandre;
Saffroy, Raphaël;
Gauchotte, Guillaume;
Wahler, Ellen;
Hasty, Lauren;
Chrétien, Fabrice;
Lechapt, Emmanuèle;
Dangouloff‐Ros, Volodia;
Boddaert, Nathalie;
Sievers, Philipp;
Varlet, Pascale

Publication type:

Article

Diagnostics of pediatric supratentorial RELA ependymomas: integration of information from histopathology, genetics, DNA methylation and imaging.

Published in:

Brain Pathology, 2019, v. 29, n. 3, p. 325, doi. 10.1111/bpa.12664

By:

Pagès, Mélanie;
Pajtler, Kristian W.;
Puget, Stéphanie;
Castel, David;
Boddaert, Nathalie;
Tauziède‐Espariat, Arnault;
Picot, Stéphanie;
Debily, Marie‐Anne;
Kool, Marcel;
Capper, David;
Sainte‐Rose, Christian;
Chrétien, Fabrice;
Pfister, Stefan M.;
Pietsch, Torsten;
Grill, Jacques;
Varlet, Pascale;
Andreiuolo, Felipe

Publication type:

Article

Co-occurrence of histone H3 K27M and BRAF V600E mutations in paediatric midline grade I ganglioglioma.

Published in:

Brain Pathology, 2018, v. 28, n. 1, p. 103, doi. 10.1111/bpa.12473

By:

Pagès, Mélanie;
Beccaria, Kevin;
Boddaert, Nathalie;
Saffroy, Raphaël;
Besnard, Aurore;
Castel, David;
Fina, Frédéric;
Barets, Doriane;
Barret, Emilie;
Lacroix, Ludovic;
Bielle, Franck;
Andreiuolo, Felipe;
Tauziède‐Espariat, Arnault;
Figarella‐Branger, Dominique;
Puget, Stéphanie;
Grill, Jacques;
Chrétien, Fabrice;
Varlet, Pascale

Publication type:

Article

Angiocentric Neuroepithelial Tumor (ANET): A New Epilepsy-Related Clinicopathological Entity with Distinctive MRI.

Published in:

Brain Pathology, 2005, v. 15, n. 4, p. 281, doi. 10.1111/j.1750-3639.2005.tb00112.x

By:

Lellouch-Tubiana, Arielle;
Boddaert, Nathalie;
Bourgeois, Marie;
Fohlen, Martine;
Jouvet, Anne;
Delalande, Olivier;
Seidenwurm, David;
Brunelle, Françis;
Sainte-Rose, Christian

Publication type:

Article

Multiple bur hole surgery for the treatment of moyamoya disease in children.

Published in:

Journal of Neurosurgery, 2006, v. 105, n. 6, p. 437, doi. 10.3171/ped.2006.105.6.437

By:

Sainte-Rose, Christian;
Oliveira, Ricardo;
Puget, Stéphanie;
Beni-Adani, Liana;
Boddaert, Nathalie;
Thorne, John;
Wray, Alison;
Zerah, Michel;
Bourgeois, Marie

Publication type:

Article

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.

Published in:

Nature Genetics, 2012, v. 44, n. 11, p. 1255, doi. 10.1038/ng.2441

By:

Barcia, Giulia;
Fleming, Matthew R;
Deligniere, Aline;
Gazula, Valeswara-Rao;
Brown, Maile R;
Langouet, Maeva;
Chen, Haijun;
Kronengold, Jack;
Abhyankar, Avinash;
Cilio, Roberta;
Nitschke, Patrick;
Kaminska, Anna;
Boddaert, Nathalie;
Casanova, Jean-Laurent;
Desguerre, Isabelle;
Munnich, Arnold;
Dulac, Olivier;
Kaczmarek, Leonard K;
Colleaux, Laurence;
Nabbout, Rima

Publication type:

Article

Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis.

Published in:

Nature Genetics, 2007, v. 39, n. 4, p. 454, doi. 10.1038/ng1993

By:

Baala, Lekbir;
Briault, Sylvain;
Etchevers, Heather C;
Laumonnier, Frédéric;
Natiq, Abdelhafid;
Amiel, Jeanne;
Boddaert, Nathalie;
Picard, Capucine;
Sbiti, Aziza;
Asermouh, Abdellah;
Attié-Bitach, Tania;
Encha-Razavi, Féréchté;
Munnich, Arnold;
Sefiani, Abdelaziz;
Lyonnet, Stanislas

Publication type:

Article

The Knudson's two-hit model and timing of somatic mutation may account for the phenotypic diversity of focal congenital hyperinsulinism.

Published in:

2006

By:

Giurgea, Irina;
Sempoux, Christine;
Bellanné-Chantelot, Christine;
Ribeiro, Maria;
Hubert, Laurence;
Boddaert, Nathalie;
Saudubray, Jean-Marie;
Robert, Jean-Jacques;
Brunelle, Francis;
Rahier, Jacques;
Jaubert, Francis;
Nihoul-Fékété, Claire;
de Lonlay, Pascale

Publication type:

journal article

Congenital Hyperinsulinism: Pancreatic [<sup>18</sup>F]Fluoro-L-Dihydroxyphenylalanine (DOPA) Positron Emission Tomography and Immunohistochemistry Study of DOPA Decarboxylase and Insulin Secretion.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2006, v. 91, n. 3, p. 933, doi. 10.1210/jc.2005-1713

By:

Lonlay, Pascale de;
Simon-Carre, Aurore;
Ribeiro, Maria-João;
Boddaert, Nathalie;
Giurgea, Irina;
Laborde, Kathleen;
Bellanné-Chantelot, Christine;
Verkarre, Virginie;
Polak, Michel;
Rahier, Jacques;
Syrota, André;
Seidenwurm, David;
Nihoul-Fékéte, Claire;
Robert, Jean-Jacques;
Brunelle, Francis;
Jaubert, Francis

Publication type:

Article

Spectrum of movement disorders associated with glutaric aciduria type 1: A study of 16 patients.

Published in:

Movement Disorders, 2008, v. 23, n. 16, p. 2392, doi. 10.1002/mds.22313

By:

Gitiaux, Cyril;
Roze, Emmanuel;
Kinugawa, Kiyoka;
Flamand-Rouvière, Constance;
Boddaert, Nathalie;
Apartis, Emmanuelle;
Valayannopoulos, Vassili;
Touati, Guy;
Motte, Jacques;
Devos, David;
Mention, Karine;
Dobbelaere, Dries;
Rodriguez, Diana;
Roubertie, Agathe;
Chabrol, Brigitte;
Feillet, François;
Vidailhet, Marie;
Bahi-Buisson, Nadia

Publication type:

Article

Atypical teratoid rhabdoid tumor mimicking beta-catenin-positive nodular medulloblastoma.

Published in:

2011

By:

Varlet, Pascale;
Beaugrand, Annick;
Lacroix, Ludovic;
Lequin, Delphine;
Pierron, Gaelle;
Puget, Stephanie;
Negretti, Laura;
Boddaert, Nathalie;
Grill, Jacques;
Dufour, Christelle

Publication type:

Letter

Fourth ventricle neurocytoma with lipomatous and ependymal differentiation.

Published in:

Acta Neuropathologica, 2005, v. 109, n. 3, p. 346, doi. 10.1007/s00401-004-0963-7

By:

Jouvet, Anne;
Lellouch-Tubiana, Arielle;
Boddaert, Nathalie;
Zerah, Michel;
Champier, Jacques;
Fèvre-Montange, Michelle

Publication type:

Article

Posterior fossa ependymoma H3 K27-mutant: an integrated radiological and histomolecular tumor analysis.

Published in:

Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01442-4

By:

Mariet, Cassandra;
Castel, David;
Grill, Jacques;
Saffroy, Raphaël;
Dangouloff-Ros, Volodia;
Boddaert, Nathalie;
Llamas-Guttierrez, Francisco;
Chappé, Céline;
Puget, Stéphanie;
Hasty, Lauren;
Chrétien, Fabrice;
Métais, Alice;
Varlet, Pascale;
Tauziède-Espariat, Arnault

Publication type:

Article

Disseminated diffuse midline gliomas, H3K27-altered mimicking diffuse leptomeningeal glioneuronal tumors: a diagnostical challenge!

Published in:

2022

By:

Tauziède-Espariat, Arnault;
Siegfried, Aurore;
Uro-Coste, Emmanuelle;
Nicaise, Yvan;
Castel, David;
Sevely, Annick;
Gambart, Marion;
Boetto, Sergio;
Hasty, Lauren;
Métais, Alice;
Chrétien, Fabrice;
Benzakoun, Joseph;
Puget, Stéphanie;
Grill, Jacques;
Dangouloff-Ros, Volodia;
Boddaert, Nathalie;
Ebrahimi, Azadeh;
Varlet, Pascale

Publication type:

Case Study

A novel LARGE1-AFF2 fusion expanding the molecular alterations associated with the methylation class of neuroepithelial tumors with PATZ1 fusions.

Published in:

2022

By:

Tauziède-Espariat, Arnault;
Chotard, Guillaume;
le Loarer, François;
Baud, Jessica;
Azmani, Rihab;
Dangouloff-Ros, Volodia;
Boddaert, Nathalie;
Icher-de-Bouyn, Céline;
Gimbert, Edouard;
Hasty, Lauren;
Métais, Alice;
Chrétien, Fabrice;
Varlet, Pascale

Publication type:

Case Study

The genomic landscape of dysembryoplastic neuroepithelial tumours and a comprehensive analysis of recurrent cases.

Published in:

Neuropathology & Applied Neurobiology, 2022, v. 48, n. 6, p. 1, doi. 10.1111/nan.12834

By:

Pagès, Mélanie;
Debily, Marie‐Anne;
Fina, Frédéric;
Jones, David T. W.;
Saffroy, Raphael;
Castel, David;
Blauwblomme, Thomas;
Métais, Alice;
Bourgeois, Marie;
Lechapt‐Zalcman, Emmanuèle;
Tauziède‐Espariat, Arnault;
Andreiuolo, Felipe;
Chrétien, Fabrice;
Grill, Jacques;
Boddaert, Nathalie;
Figarella‐Branger, Dominique;
Beroukhim, Rameen;
Varlet, Pascale

Publication type:

Article

A malignant choroid plexus tumour with prevailing immature blastematous elements.

Published in:

Neuropathology & Applied Neurobiology, 2022, v. 48, n. 2, p. 1, doi. 10.1111/nan.12764

By:

Tauziède‐Espariat, Arnault;
Pagès, Mélanie;
Masliah‐Planchon, Julien;
Bourdeaut, Franck;
Doz, François;
Beccaria, Kévin;
Boddaert, Nathalie;
Hasty, Lauren;
Lechapt, Emmanuèle;
Thomas, Christian;
Paulus, Werner;
Varlet, Pascale;
Hasselblatt, Martin

Publication type:

Article

Abnormal cortical voice processing in autism.

Published in:

Nature Neuroscience, 2004, v. 7, n. 8, p. 801, doi. 10.1038/nn1291

By:

Gervais, Hélène;
Belin, Pascal;
Boddaert, Nathalie;
Leboyer, Marion;
Coez, Arnaud;
Sfaello, Ignacio;
Barthélémy, Catherine;
Brunelle, Francis;
Samson, Yves;
Zilbovicius, Mônica

Publication type:

Article

Severe Acute Flaccid Myelitis Associated With Enterovirus in Children: Two Phenotypes for Two Evolution Profiles?

Published in:

Frontiers in Neurology, 2020, v. 11, p. 1, doi. 10.3389/fneur.2020.00343

By:

Aubart, Melodie;
Gitiaux, Cyril;
Roux, Charles Joris;
Levy, Raphael;
Schuffenecker, Isabelle;
Mirand, Audrey;
Bach, Nathalie;
Moulin, Florence;
Bergounioux, Jean;
Leruez-Ville, Marianne;
Rozenberg, Flore;
Sterlin, Delphine;
Musset, Lucile;
Antona, Denise;
Boddaert, Nathalie;
Zhang, Shen Ying;
Kossorotoff, Manoelle;
Desguerre, Isabelle

Publication type:

Article

MRI Findings in 77 Children with Non-Syndromic Autistic Disorder.

Published in:

PLoS ONE, 2009, v. 4, n. 2, p. 1, doi. 10.1371/journal.pone.0004415

By:

Boddaert, Nathalie;
Mônica Zilbovicius;
Philipe, Anne;
Robel, Laurence;
Bourgeois, Marie;
Barthélemy, Catherine;
Seidenwurm, David;
Meresse, Isabelle;
Laurier, Laurence;
Desguerre, Isabelle;
Bahi-Buisson, Nadia;
Brunelle, Francis;
Munnich, Arnold;
Samson, Yves;
Mouren, Marie-Christine;
Chabane, Nadia

Publication type:

Article

Injuries to Inferior Vermis and Dentate Nuclei Predict Poor Neurological and Neuropsychological Outcome in Children With Malignant Posterior Fossa Tumors.

Published in:

Cancer (0008543X), 2009, v. 115, n. 6, p. 1338, doi. 10.1002/cncr.24150

By:

Puget, Stephanie;
Boddaert, Nathalie;
Viguier, Delphine;
Kieffer, Virginie;
Bulteau, Christine;
Garnett, Matthew;
Callu, Delphine;
Sainte-Rose, Christian;
Kalifa, Chantal;
Dellatolas, Georges;
Grill, Jacques

Publication type:

Article