Nadia Bahi-Buisson

Affiliations
  • Service de Génétique (G.B., J.-P.B., S.G.-L.), Groupe Hospitalier Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; INSERM U1163 (G.B., N.B-.B., R.N.), Université Paris Descartes, PRES Sorbonne Paris Cité, Paris, France; Service de Neurologie Pédiatrique (N.C., N.B-.B., A.K., R.N.), Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; Centre de Référence des Epilepsies Rares (N.C., A.K., R.N.), Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; INSERM U1129 (N.N., A.K., R.N.), Paris, France; Service de Neurophysiologie Clinique et Pédiatrie (M.K.), INSERM U1099, Hôpital Universitaire de Rennes, Université de Rennes, France; Service de Neurophysiologie Clinique (M.E., A.K.), Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; Service de Génétique Clinique (V.C.), Hôpital Femme Mère Enfant, Metz-Thionville, France; Pediatric Neurology Research Group (A.M.), Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain; Service de Génétique Clinique (L.L.), Hôpital d'Enfants, CHU de Nancy, Vandoeuvre-Lès-Nancy, France; Service de Pédiatrie (F.D.), CHU de Grenoble, France; Service de Neurologie Pédiatrique (D.D., T.B.V.), Hôpital Trousseau, Assistance Publique-Hôpitaux de Paris, Paris, France; Service de Neurologie Pédiatrique (N.V., M.M.), APHM, Hôpital d'Enfants de La Timone, Marseille, France; Service de Neurologie Pédiatrique (M-.A.B., M.M.), Centre Hospitalier Universitaire de Tours, Tours, France; Département de Génétique (C.N., M.M.), Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France; Service de Radiologie Pédiatrique (N.B., M.M.), Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; Université Aix-Marseille (M.M.), INSERM, MMG, UMR-S 1251, Faculté de Médecine, Marseille, France; and Unité de Neurologie Pédiatrique (S.A.), Hôpital Rober Debré, Assistance Publique-Hôpitaux de Paris, Paris, France.

Publications (38)

Epilepsy with migrating focal seizures: KCNT1 mutation hotspots and phenotype variability.

Neurology. Genetics
Avec: Giulia Barcia , Nicole Chemaly , Mathieu Kuchenbuch , Monika Eisermann , Stéphanie Gobin-Limballe , Viorica Ciorna , Alfons Macaya , Laetitia Lambert , Fanny Dubois , Diane Doummar , Thierry Billette de Villemeur , Nathalie Villeneuve , Marie-Anne Barthez , Caroline Nava , Nathalie Boddaert , Anna Kaminska , Mathieu Milh , Stéphane Auvin , Jean-Paul Bonnefont , Rima Nabbout

Heterogeneity in defining fetal corpus callosal pathology: systematic review.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
Avec: H Mahallati , A Sotiriadis , C Celestin , A E Millischer , P Sonigo , D Grevent , N O'Gorman , N Bahi-Buisson , T Attié-Bitach , Y Ville , L J Salomon

Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics.

Brain : a journal of neurology
Avec: Laura V Vandervore , Rachel Schot , Esmee Kasteleijn , Renske Oegema , Katrien Stouffs , Alexander Gheldof , Martyna M Grochowska , Marianne L T van der Sterre , Leontine M A van Unen , Martina Wilke , Peter Elfferich , Peter J van der Spek , Daphne Heijsman , Anna Grandone , Jeroen A A Demmers , Dick H W Dekkers , Johan A Slotman , Gert-Jan Kremers , Gerben J Schaaf , Roy G Masius , Anton J van Essen , Patrick Rump , Arie van Haeringen , Els Peeters , Umut Altunoglu , Tugba Kalayci , Raymond A Poot , William B Dobyns , Frans W Verheijen , Anna C Jansen , Grazia M S Mancini

2D and 3D Human Induced Pluripotent Stem Cell-Based Models to Dissect Primary Cilium Involvement during Neocortical Development.

Journal of visualized experiments : JoVE
Avec: Lucile Boutaud , Marie Michael , Céline Banal , Damelys Calderon , Sarah Farcy , Julie Pernelle , Nicolas Goudin , Camille Maillard , Clémantine Dimartino , Cécile Deleschaux , Sébastien Dupichaud , Corinne Lebreton , Sophie Saunier , Tania Attié-Bitach , Nathalie Lefort , Sophie Thomas

A human dynein heavy chain mutation impacts cortical progenitor cells causing developmental defects, reduced brain size and altered brain architecture.

Neurobiology of disease
Avec: Delfina M Romero , Donia Zaidi , Carmen Cifuentes-Diaz , Camille Maillard , Gael Grannec , Mohammed Selloum , Marie-Christine Birling , Fiona Francis

Prenatal assessment of brain malformations on neuroimaging: an expert panel review.

Brain : a journal of neurology
Avec: Ivana Pogledic , Kshitij Mankad , Mariasavina Severino , Tally Lerman-Sagie , Andras Jakab , Efrat Hadi , Anna C Jansen , Natalya Di Donato , Renske Oegema , Christian Mitter , Ivan Capo , Matthew T Whitehead , Parthiv Haldipur , Grazia Mancini , Thierry A G M Huisman , Andrea Righini , Bill Dobyns , James A Barkovich , Natasa Jovanov Milosevic , Gregor Kasprian , Maarten Lequin

KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP.

Brain : a journal of neurology
Avec: Mathieu Kuchenbuch , Giulia Barcia , Nicole Chemaly , Emilie Carme , Agathe Roubertie , Marc Gibaud , Patrick Van Bogaert , Anne de Saint Martin , Edouard Hirsch , Fanny Dubois , Catherine Sarret , Sylvie Nguyen The Tich , Cecile Laroche , Vincent des Portes , Thierry Billette de Villemeur , Marie-Anne Barthez , Stéphane Auvin , Isabelle Desguerre , Anna Kaminska , Pascal Benquet , Rima Nabbout

Clinical, biochemical and genetic characteristics of a cohort of 101 French and Italian patients with HPRT deficiency.

Molecular genetics and metabolism
Avec: Annalisa Madeo , Maja Di Rocco , Anaïs Brassier , Pascale De Lonlay , Irène Ceballos-Picot

Conditional switching of KIF2A mutation provides new insights into cortical malformation pathogeny.

Human molecular genetics
Avec: Johan G Gilet , Ekaterina L Ivanova , Daria Trofimova , Gabrielle Rudolf , Hamid Meziane , Loic Broix , Nathalie Drouot , Jeremie Courraud , Valerie Skory , Paul Voulleminot , Maria Osipenko , Binnaz Yalcin , Marie-Christine Birling , Maria-Victoria Hinckelmann , Benjamin H Kwok , John S Allingham , Jamel Chelly

Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome.

Neurology
Avec: Silvia Masnada , Anna Pichiecchio , Manuela Formica , Filippo Arrigoni , Paola Borrelli , Patrizia Accorsi , Paolo Bonanni , Renato Borgatti , Bernardo Dalla Bernardina , Alberto Danieli , Francesca Darra , Nicolas Deconinck , Valentina De Giorgis , Olivier Dulac , Svetlana Gataullina , Lucio Giordano , Renzo Guerrini , Francesca La Briola , Massimo Mastrangelo , Martino Montomoli , Marzia Mortilla , Elisa Osanni , Pasquale Parisi , Emilio Perucca , Lorenzo Pinelli , Romina Romaniello , Mariasavina Severino , Federico Vigevano , Aglaia Vignoli , Mara Cavallin , Andrea Accogli , Marie Burgeois , Valeria Capra , Virgine Chaves-Vischer , Luisa Chiapparini , GiovannaStefania Colafati , Stefano D'Arrigo , Isabelle Desguerre , Martine Doco-Fenzy , Giuseppe d'Orsi , Nino Epitashvili , Elisa Fazzi , Alessandro Ferretti , Elena Fiorini , Melanie Fradin , Carlo Fusco , Tiziana Granata , Katrine Marie Johannesen , Sebastien Lebon , Philippe Loget , Rikke Steensjerre Moller , Domenico Montanaro , Simona Orcesi , Chloe Quelin , Erika Rebessi , Antonino Romeo , Roberta Solazzi , Carlotta Spagnoli , Christian Uebler , Federico Zara , Alexis Arzimanoglou , Pierangelo Veggiotti , Auteur inconnu

Endosomal trafficking defects alter neural progenitor proliferation and cause microcephaly.

Nature communications
Avec: Jacopo A Carpentieri , Amandine Di Cicco , Marusa Lampic , David Andreau , Laurence Del Maestro , Fatima El Marjou , Laure Coquand , Jean-Baptiste Brault , Alexandre D Baffet

Activation of the PI3K/AKT/mTOR Pathway in Cajal-Retzius Cells Leads to Their Survival and Increases Susceptibility to Kainate-Induced Seizures.

International journal of molecular sciences
Avec: Nasim Ramezanidoraki , Driss El Ouardi , Margaux Le , Stéphanie Moriceau , Mahboubeh Ahmadi , Dossi Elena , Danae Rolland , Philippe Bun , Gwenaëlle Le Pen , Guillaume Canaud , Nathalie Rouach , Rebecca Piskorowski , Alessandra Pierani , Pierre Billuart

Defining the phenotypical spectrum associated with variants in

Journal of medical genetics
Avec: Stefanie Brock , Tim Vanderhasselt , Sietske Vermaning , Kathelijn Keymolen , Luc Régal , Romina Romaniello , Dagmar Wieczorek , Tim Matthias Storm , Karin Schaeferhoff , Ute Hehr , Alma Kuechler , Ingeborg Krägeloh-Mann , Tobias B Haack , Esmee Kasteleijn , Rachel Schot , Grazia Maria Simonetta Mancini , Richard Webster , Shekeeb Mohammad , Richard J Leventer , Ghayda Mirzaa , William B Dobyns , Marije Meuwissen , Anna C Jansen , Katrien Stouffs

TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities.

American journal of human genetics
Avec: Laura V Vandervore , Rachel Schot , Chiara Milanese , Daphne J Smits , Esmee Kasteleijn , Andrew E Fry , Daniela T Pilz , Stefanie Brock , Esra Börklü-Yücel , Marco Post , María José Sánchez-Soler , Marjon van Slegtenhorst , Boris Keren , Alexandra Afenjar , Stephanie A Coury , Wen-Hann Tan , Renske Oegema , Linda S de Vries , Katherine A Fawcett , Peter G J Nikkels , Aida Bertoli-Avella , Amal Al Hashem , Abdulmalik A Alwabel , Kalthoum Tlili-Graiess , Stephanie Efthymiou , Faisal Zafar , Nuzhat Rana , Farah Bibi , Henry Houlden , Reza Maroofian , Richard E Person , Amy Crunk , Juliann M Savatt , Lisbeth Turner , Mohammad Doosti , Ehsan Ghayoor Karimiani , Nebal Waill Saadi , Javad Akhondian , Maarten H Lequin , Hülya Kayserili , Peter J van der Spek , Anna C Jansen , Johan M Kros , Robert M Verdijk , Nataša Jovanov Milošević , Maarten Fornerod , Pier Giorgio Mastroberardino , Grazia M S Mancini

Mutations in the Heterotopia Gene Eml1/EML1 Severely Disrupt the Formation of Primary Cilia.

Cell reports
Avec: Ana Uzquiano , Carmen Cifuentes-Diaz , Ammar Jabali , Delfina M Romero , Anne Houllier , Florent Dingli , Camille Maillard , Anne Boland , Jean-François Deleuze , Damarys Loew , Grazia M S Mancini , Julia Ladewig , Fiona Francis

EML1-associated brain overgrowth syndrome with ribbon-like heterotopia.

American journal of medical genetics. Part C, Seminars in medical genetics
Avec: Renske Oegema , George McGillivray , Richard Leventer , Anne-Gaëlle Le Moing , Angela Barnicoat , Simone Mandelstam , David Francis , Fiona Francis , Grazia M S Mancini , Sanne Savelberg , Gijs van Haaften , Kshitij Mankad , Maarten H Lequin

High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Mehdi Benkirane , Cecilia Marelli , Claire Guissart , Agathe Roubertie , Elizabeth Ollagnon , Ariane Choumert , Frédérique Fluchère , Fabienne Ory Magne , Yosra Halleb , Mathilde Renaud , Lise Larrieu , David Baux , Olivier Patat , Idriss Bousquet , Jean-Marie Ravel , Danielle Cuntz-Shadfar , Catherine Sarret , Xavier Ayrignac , Anne Rolland , Raoul Morales , Morgane Pointaux , Cathy Lieutard-Haag , Brice Laurens , Caroline Tillikete , Emilien Bernard , Martial Mallaret , Clarisse Carra-Dallière , Christine Tranchant , Pierre Meyer , Lena Damaj , Laurent Pasquier , Cecile Acquaviva , Annabelle Chaussenot , Bertrand Isidor , Karine Nguyen , William Camu , Alexandre Eusebio , Nicolas Carrière , Audrey Riquet , Eric Thouvenot , Victoria Gonzales , Emilie Carme , Shahram Attarian , Sylvie Odent , Anna Castrioto , Claire Ewenczyk , Perrine Charles , Laurent Kremer , Samira Sissaoui , Elsa Kaphan , Adrian Degardin , Bérénice Doray , Sophie Julia , Ganaëlle Remerand , Valerie Fraix , Lydia Abou Haidar , Leila Lazaro , Vincent Laugel , Frederic Villega , Cyril Charlin , Solène Frismand , Marinha Costa Moreira , Tatiana Witjas , Christine Francannet , Ulrike Walther-Louvier , Mélanie Fradin , Brigitte Chabrol , Joel Fluss , Eric Bieth , Giovanni Castelnovo , Sylvain Vergnet , Isabelle Meunier , Alain Verloes , Elise Brischoux-Boucher , Christine Coubes , David Geneviève , Nicolas Lebouc , Jean Phillipe Azulay , Mathieu Anheim , Cyril Goizet , François Rivier , Pierre Labauge , Patrick Calvas , Michel Koenig

Effects of ganaxolone on non-seizure outcomes in CDKL5 Deficiency Disorder: Double-blind placebo-controlled randomized trial.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Avec: J Downs , P Jacoby , N Specchio , H Cross , S Amin , N Bahi-Buisson , R Rajaraman , B Suter , O Devinsky , A Aimetti , G Busse , H E Olson , S Demarest , T A Benke , E Pestana-Knight

De novo monoallelic Reelin missense variants act in a dominant-negative manner causing neuronal migration disorders.

The Journal of clinical investigation
Avec: Martina Riva , Sofia Ferreira , Kotaro Hayashi , Yoann Saillour , Vera P Medvedeva , Takao Honda , Kanehiro Hayashi , Claire Altersitz , Shahad Albadri , Marion Rosello , Julie Dang , Malo Serafini , Frédéric Causeret , Olivia J Henry , Charles-Joris Roux , Céline Bellesme , Elena Freri , Dragana Josifova , Elena Parrini , Renzo Guerrini , Filippo Del Bene , Kazunori Nakajima , Alessandra Pierani

Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.

American journal of human genetics
Avec: Sabrina Mechaussier , Basamat Almoallem , Christina Zeitz , Kristof Van Schil , Laila Jeddawi , Jo Van Dorpe , Alfredo Dueñas Rey , Christel Condroyer , Olivier Pelle , Michel Polak , Nathalie Boddaert , Mara Cavallin , Jean-Louis Bacquet , Alexandra Mouallem-Bézière , Olivia Zambrowski , José Alain Sahel , Isabelle Audo , Josseline Kaplan , Jean-Michel Rozet , Elfride De Baere , Isabelle Perrault

International consensus recommendations on the diagnostic work-up for malformations of cortical development.

Nature reviews. Neurology
Avec: Renske Oegema , Tahsin Stefan Barakat , Martina Wilke , Katrien Stouffs , Dina Amrom , Eleonora Aronica , Valerio Conti , Andrew E Fry , Tobias Geis , David Gomez Andres , Elena Parrini , Ivana Pogledic , Edith Said , Doriette Soler , Luis M Valor , Maha S Zaki , Ghayda Mirzaa , William B Dobyns , Orly Reiner , Renzo Guerrini , Daniela T Pilz , Ute Hehr , Richard J Leventer , Anna C Jansen , Grazia M S Mancini , Nataliya Di Donato

Autosomal dominant TUBB3-related syndrome: Fetal, radiologic, clinical and morphological features.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Avec: Lubov Blumkin , Zvi Leibovitz , Karina Krajden-Haratz , Ayala Arad , Keren Yosovich , Liat Gindes , Ayelet Zerem , Liat Ben-Sira , Dorit Lev , Andrea Nissenkorn , Dvora Kidron , William B Dobyns , Gustavo Malinger , Richard J Leventer , Tally Lerman-Sagie

Analysis of the Phenotypes in the Rett Networked Database.

International journal of genomics
Avec: Elisa Frullanti , Filomena T Papa , Elisa Grillo , Angus Clarke , Bruria Ben-Zeev , Mercedes Pineda , Thierry Bienvenu , Judith Armstrong , Ana Roche Martinez , Francesca Mari , Andreea Nissenkorn , Caterina Lo Rizzo , Edvige Veneselli , Silvia Russo , Aglaia Vignoli , Giorgio Pini , Milena Djuric , Anne-Marie Bisgaard , Kirstine Ravn , Vlatka Mejaski Bosnjak , Joussef Hayek , Rajni Khajuria , Barbara Montomoli , Francesca Cogliati , Maria Pintaudi , Kinga Hadzsiev , Dana Craiu , Victoria Voinova , Aleksandra Djukic , Laurent Villard , Alessandra Renieri

The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy.

Epilepsia
Avec: Alexandre N Datta , Thierry Bienvenu , Sarah E Buerki , Fiona Gardiner , J Helen Cross , Bénédicte Heron , Anna Kaminska , Christian M Korff , Anne Lepine , Gaetan Lesca , Amy McTague , Heather C Mefford , Cyrill Mignot , Matthieu Milh , Amélie Piton , Ronit M Pressler , Susanne Ruf , Lynette G Sadleir , Anne de Saint Martin , Koen Van Gassen , Nienke E Verbeek , Dorothée Ville , Nathalie Villeneuve , Pia Zacher , Ingrid E Scheffer , Johannes R Lemke

International Consensus Recommendations for the Assessment and Management of Individuals With CDKL5 Deficiency Disorder.

Frontiers in neurology
Avec: Sam Amin , Marie Monaghan , Angel Aledo-Serrano , Richard F Chin , Angus J Clarke , J Helen Cross , Scott Demarest , Orrin Devinsky , Jenny Downs , Elia M Pestana Knight , Heather Olson , Carol-Anne Partridge , Graham Stuart , Marina Trivisano , Sameer Zuberi , Tim A Benke

Ceroid lipofuscinosis type 2 disease: Effective presymptomatic therapy-Oldest case of a presymptomatic enzyme therapy.

European journal of neurology
Avec: Delphine Breuillard , Lisa Ouss , Marie Thérèse Le Normand , Timothée de Saint Denis , Christine Barnerias , Matthieu P Robert , Monika Eisermann , Nathalie Boddaert , Catherine Caillaud , Isabelle Desguerre , Mélodie Aubart

MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia.

Nature communications
Avec: Ekin Ucuncu , Karthyayani Rajamani , Miranda S C Wilson , Daniel Medina-Cano , Nami Altin , Pierre David , Giulia Barcia , Nathalie Lefort , Céline Banal , Marie-Thérèse Vasilache-Dangles , Gaële Pitelet , Elsa Lorino , Nathalie Rabasse , Eric Bieth , Maha S Zaki , Meral Topcu , Fatma Mujgan Sonmez , Damir Musaev , Valentina Stanley , Christine Bole-Feysot , Patrick Nitschké , Arnold Munnich , Catherine Fossoud , Fabienne Giuliano , Laurence Colleaux , Lydie Burglen , Joseph G Gleeson , Nathalie Boddaert , Adolfo Saiardi , Vincent Cantagrel

Electro-clinical features in epileptic children with chromosome 15q duplication syndrome.

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology
Avec: M-T Dangles , V Malan , G Dumas , S Romana , O Raoul , D Coste-Zeitoun , C Soufflet , P Vignolo-Diard , N Bahi-Buisson , C Barnérias , N Chemaly , I Desguerre , C Gitiaux , M Hully , M Bourgeois , A Guimier , M Rio , A Munnich , R Nabbout , A Kaminska , M Eisermann

Building Bridges Between the Clinic and the Laboratory: A Meeting Review - Brain Malformations: A Roadmap for Future Research.

Frontiers in cellular neuroscience
Avec: Tamar Sapir , Tahsin Stefan Barakat , Mercedes F Paredes , Tally Lerman-Sagie , Eleonora Aronica , Wlodzimierz Klonowski , Laurent Nguyen , Bruria Ben Zeev , Richard Leventer , Noa Rachmian , Orly Reiner

Polysomnographic findings in Rett syndrome.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Avec: Alessandro Amaddeo , Livio De Sanctis , Jorge Olmo Arroyo , Sonia Khirani , Brigitte Fauroux

Human neuropathology confirms projection neuron and interneuron defects and delayed oligodendrocyte production and maturation in FOXG1 syndrome.

European journal of medical genetics
Avec: Nina-Maria Wilpert , Florent Marguet , Camille Maillard , Fabien Guimiot , Jelena Martinovic , Séverine Drunat , Tania Attié-Bitach , Ferechté Razavi , Aude Tessier , Yline Capri , Annie Laquerrière ,

Feasibility and Added Value of Fetal DTI Tractography in the Evaluation of an Isolated Short Corpus Callosum: Preliminary Results.

AJNR. American journal of neuroradiology
Avec: A-E Millischer , D Grevent , P Sonigo , N Bahi-Buisson , I Desguerre , H Mahallati , J-P Bault , T Quibel , S Couderc , M-L Moutard , E Julien , V Dangouloff , B Bessieres , V Malan , T Attie , L-J Salomon , N Boddaert

Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical development.

Nature communications
Avec: Delfina M Romero , Karine Poirier , Richard Belvindrah , Imane Moutkine , Anne Houllier , Anne-Gaëlle LeMoing , Florence Petit , Anne Boland , Stephan C Collins , Mariano Soiza-Reilly , Binnaz Yalcin , Jamel Chelly , Jean-François Deleuze , Fiona Francis

Safety and efficacy of ganaxolone in patients with CDKL5 deficiency disorder: results from the double-blind phase of a randomised, placebo-controlled, phase 3 trial.

The Lancet. Neurology
Avec: Elia M Pestana Knight , Sam Amin , Tim A Benke , J Helen Cross , Scott T Demarest , Heather E Olson , Nicola Specchio , Thomas R Fleming , Alex A Aimetti , Maciej Gasior , Orrin Devinsky , Auteur inconnu

Overlapping cortical malformations in patients with pathogenic variants in

Journal of medical genetics
Avec: Stefanie Brock , Annie Laquerriere , Florent Marguet , Scott J Myers , Yuan Hongjie , Diana Baralle , Tim Vanderhasselt , Katrien Stouffs , Kathelijn Keymolen , Sukhan Kim , James Allen , Gil Shaulsky , Jamel Chelly , Pascale Marcorelle , Jacqueline Aziza , Laurent Villard , Elise Sacaze , Marie C Y de Wit , Martina Wilke , Grazia Maria Simonetta Mancini , Ute Hehr , Derek Lim , Sahar Mansour , Stephen F Traynelis , Claire Beneteau , Marie Denis-Musquer , Anna C Jansen , Andrew E Fry ,

Expanding genotype-phenotype correlations in FOXG1 syndrome: results from a patient registry.

Orphanet journal of rare diseases
Avec: Elise Brimble , Kathryn G Reyes , Kopika Kuhathaas , Orrin Devinsky , Maura R Z Ruzhnikov , Xilma R Ortiz-Gonzalez , Ingrid Scheffer , Heather Olson , Auteur inconnu

Genetic Primary Microcephalies: When Centrosome Dysfunction Dictates Brain and Body Size.

Cells
Avec: Sarah Farcy , Hassina Hachour , Sandrine Passemard

Long-term treatment with ganaxolone for seizures associated with cyclin-dependent kinase-like 5 deficiency disorder: Two-year open-label extension follow-up.

Epilepsia
Avec: Heather E Olson , Sam Amin , Orrin Devinsky , Eric D Marsh , Elia Pestana-Knight , Rajsekar R Rajaraman , Alex A Aimetti , Eva Rybak , Fanhui Kong , Ian Miller , Joseph Hulihan , Scott Demarest

Réseau de co-auteurs

Anna C Jansen 6 collaborations
Renske Oegema 5 collaborations
Grazia M S Mancini 5 collaborations
Nathalie Boddaert 4 collaborations
N Bahi-Buisson 4 collaborations
Katrien Stouffs 4 collaborations
William B Dobyns 4 collaborations
Camille Maillard 4 collaborations
Fiona Francis 4 collaborations
Orrin Devinsky 4 collaborations
Giulia Barcia 3 collaborations
Anna Kaminska 3 collaborations
Rachel Schot 3 collaborations
Esmee Kasteleijn 3 collaborations
Martina Wilke 3 collaborations
Delfina M Romero 3 collaborations
Tally Lerman-Sagie 3 collaborations
Isabelle Desguerre 3 collaborations
Jamel Chelly 3 collaborations
Renzo Guerrini 3 collaborations
None None 3 collaborations
Stefanie Brock 3 collaborations
Ute Hehr 3 collaborations
Richard J Leventer 3 collaborations
Andrew E Fry 3 collaborations
J Helen Cross 3 collaborations
Sam Amin 3 collaborations
Nicole Chemaly 2 collaborations
Mathieu Kuchenbuch 2 collaborations
Monika Eisermann 2 collaborations
Fanny Dubois 2 collaborations
Thierry Billette de Villemeur 2 collaborations
Nathalie Villeneuve 2 collaborations
Marie-Anne Barthez 2 collaborations
Stéphane Auvin 2 collaborations
Rima Nabbout 2 collaborations
H Mahallati 2 collaborations
P Sonigo 2 collaborations
D Grevent 2 collaborations
Laura V Vandervore 2 collaborations
Peter J van der Spek 2 collaborations
Céline Banal 2 collaborations
Sarah Farcy 2 collaborations
Tania Attié-Bitach 2 collaborations
Nathalie Lefort 2 collaborations
Carmen Cifuentes-Diaz 2 collaborations
Marie-Christine Birling 2 collaborations
Ivana Pogledic 2 collaborations
Kshitij Mankad 2 collaborations
Mariasavina Severino 2 collaborations
Emilie Carme 2 collaborations
Agathe Roubertie 2 collaborations
Anne de Saint Martin 2 collaborations
Catherine Sarret 2 collaborations
Binnaz Yalcin 2 collaborations
Romina Romaniello 2 collaborations
Aglaia Vignoli 2 collaborations
Mara Cavallin 2 collaborations
Alessandra Pierani 2 collaborations
Tim Vanderhasselt 2 collaborations
Kathelijn Keymolen 2 collaborations
Grazia Maria Simonetta Mancini 2 collaborations
Ghayda Mirzaa 2 collaborations
Daniela T Pilz 2 collaborations
Maarten H Lequin 2 collaborations
Anne Houllier 2 collaborations
Anne Boland 2 collaborations
Jean-François Deleuze 2 collaborations
Richard Leventer 2 collaborations
Eric Bieth 2 collaborations
Elena Parrini 2 collaborations
Tahsin Stefan Barakat 2 collaborations
Eleonora Aronica 2 collaborations
Maha S Zaki 2 collaborations
Orly Reiner 2 collaborations
Thierry Bienvenu 2 collaborations
Laurent Villard 2 collaborations
Scott Demarest 2 collaborations
Elia M Pestana Knight 2 collaborations
Heather Olson 2 collaborations
Tim A Benke 2 collaborations
V Malan 2 collaborations
I Desguerre 2 collaborations
Florent Marguet 2 collaborations
Heather E Olson 2 collaborations
Alex A Aimetti 2 collaborations
Stéphanie Gobin-Limballe 1 collaboration
Viorica Ciorna 1 collaboration
Alfons Macaya 1 collaboration
Laetitia Lambert 1 collaboration
Diane Doummar 1 collaboration
Caroline Nava 1 collaboration
Mathieu Milh 1 collaboration
Jean-Paul Bonnefont 1 collaboration
A Sotiriadis 1 collaboration
C Celestin 1 collaboration
A E Millischer 1 collaboration
N O'Gorman 1 collaboration
T Attié-Bitach 1 collaboration
Y Ville 1 collaboration
L J Salomon 1 collaboration
Alexander Gheldof 1 collaboration
Martyna M Grochowska 1 collaboration
Marianne L T van der Sterre 1 collaboration
Leontine M A van Unen 1 collaboration
Peter Elfferich 1 collaboration
Daphne Heijsman 1 collaboration
Anna Grandone 1 collaboration
Jeroen A A Demmers 1 collaboration
Dick H W Dekkers 1 collaboration
Johan A Slotman 1 collaboration
Gert-Jan Kremers 1 collaboration
Gerben J Schaaf 1 collaboration
Roy G Masius 1 collaboration
Anton J van Essen 1 collaboration
Patrick Rump 1 collaboration
Arie van Haeringen 1 collaboration
Els Peeters 1 collaboration
Umut Altunoglu 1 collaboration
Tugba Kalayci 1 collaboration
Raymond A Poot 1 collaboration
Frans W Verheijen 1 collaboration
Lucile Boutaud 1 collaboration
Marie Michael 1 collaboration
Damelys Calderon 1 collaboration
Julie Pernelle 1 collaboration
Nicolas Goudin 1 collaboration
Clémantine Dimartino 1 collaboration
Cécile Deleschaux 1 collaboration
Sébastien Dupichaud 1 collaboration
Corinne Lebreton 1 collaboration
Sophie Saunier 1 collaboration
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