Isabelle Desguerre

Affiliations

Fédération de Génétique Médicale, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75015 Paris, France; Institut IMAGINE, UMR 1163, Université de Paris, Paris, France.

Publications (99)

Evidence of diaphragmatic dysfunction with severe alveolar hypoventilation syndrome in mitochondrial respiratory chain deficiency.

Neuromuscular disorders : NMD

Avec: Giulia Barcia , Sonia Khirani , Alessandro Amaddeo , Zahra Assouline , Alessandra Pennisi , Nathalie Boddaert , Norma Romero , Manuel Schiff , Agnès Rötig , Claude Besmond , Jean-Paul Bonnefont , Arnold Munnich , Brigitte Fauroux

RESTORE: A Prospective Multinational Registry of Patients with Genetically Confirmed Spinal Muscular Atrophy - Rationale and Study Design.

Journal of neuromuscular diseases

Avec: Richard S Finkel , John W Day , Darryl C De Vivo , Janbernd Kirschner , Eugenio Mercuri , Francesco Muntoni , Perry B Shieh , Eduardo Tizzano , Susana Quijano-Roy , Kayoko Saito , Marcus Droege , Omar Dabbous , Farid Khan , Lydie Renault , Frederick A Anderson , Laurent Servais

Simulations of Valproate Doses Based on an External Evaluation of Pediatric Population Pharmacokinetic Models.

Journal of clinical pharmacology

Avec: Manon Tauzin , Jean-Marc Tréluyer , Rima Nabbout , Thierry Billette de Villemeur , Radia Aboura , Ines Gana , Yi Zheng , Sihem Benaboud , Naim Bouazza , Camille Chenevier-Gobeaux , Cécile Freihuber , Déborah Hirt

Attachment insecurity in infants with infantile spasms: Maternal anxiety and sadness, and infant's temperament outweigh disease severity.

Epilepsy & behavior : E&B

Avec: Laure Boissel , Guillaume Le Borgne , Luisa Fuentealba Baldini , Christelle Gosme , Marluce Leitgel Gille , Bernard Golse , Rima Nabbout , Ayala Borghini , Lisa Ouss

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.

Nature communications

Avec: Sukhleen Kour , Deepa S Rajan , Tyler R Fortuna , Eric N Anderson , Caroline Ward , Youngha Lee , Sangmoon Lee , Yong Beom Shin , Jong-Hee Chae , Murim Choi , Karine Siquier , Vincent Cantagrel , Jeanne Amiel , Elliot S Stolerman , Sarah S Barnett , Margot A Cousin , Diana Castro , Kimberly McDonald , Brian Kirmse , Andrea H Nemeth , Dhivyaa Rajasundaram , A Micheil Innes , Danielle Lynch , Patrick Frosk , Abigail Collins , Melissa Gibbons , Michele Yang , Nathalie Boddaert , Cyril Gitiaux , Siri Lynne Rydning , Kaja K Selmer , Roser Urreizti , Alberto Garcia-Oguiza , Andrés Nascimento Osorio , Edgard Verdura , Aurora Pujol , Hannah R McCurry , John E Landers , Sameer Agnihotri , E Corina Andriescu , Shade B Moody , Chanika Phornphutkul , Maria J Guillen Sacoto , Amber Begtrup , Henry Houlden , Janbernd Kirschner , David Schorling , Sabine Rudnik-Schöneborn , Tim M Strom , Steffen Leiz , Kali Juliette , Randal Richardson , Ying Yang , Yuehua Zhang , Minghui Wang , Jia Wang , Xiaodong Wang , Konrad Platzer , Sandra Donkervoort , Carsten G Bönnemann , Matias Wagner , Mahmoud Y Issa , Hasnaa M Elbendary , Valentina Stanley , Reza Maroofian , Joseph G Gleeson , Maha S Zaki , Jan Senderek , Udai Bhan Pandey

Cerliponase alfa changes the natural history of children with neuronal ceroid lipofuscinosis type 2: The first French cohort.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Avec: Bastien Estublier , Aline Cano , Célia Hoebeke , Samia Pichard , Didier Scavarda , Stéphane Auvin , Brigitte Chabrol

Prenatal-onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutation.

Birth defects research

Avec: Suzanne Chartier , Lucile Boutaud , Edouard Le Guillou , Caroline Alby , Clarisse Billon , Anne-Elodie Millischer , Catherine Caillaud , Louise Galmiche , Charlotte Mechler , Pascale Sonigo , Nathalie Boddaert , Stanislas Lyonnet , Sophie Rondeau , Christine Bole-Feysot , Cécile Masson , Yves Ville , Philippe Roth , Férechté Encha-Razavi , Tania Attie-Bitach

Fatal thrombotic microangiopathy case following adeno-associated viral SMN gene therapy.

Blood advances

Avec: Julia Guillou , Alice de Pellegars , Florence Porcheret , Véronique Frémeaux-Bacchi , Emma Allain-Launay , Camille Debord , Manon Denis , Yann Péréon , Christine Barnérias , Gwenaëlle Roussey , Sandra Mercier

Recurrent de novo mutations in CLDN5 induce an anion-selective blood-brain barrier and alternating hemiplegia.

Brain : a journal of neurology

Avec: Yosuke Hashimoto , Karine Poirier , Nathalie Boddaert , Laurence Hubert , Melodie Aubart , Anna Kaminska , Marianne Alison , Arnold Munnich , Matthew Campbell

The Use and Outcomes of Motor Rehabilitation Services Among People With Cerebral Palsy Change Across the Lifespan.

Frontiers in neurology

Avec: Gwenaël Cornec , Sylvain Brochard , Gaelle Drewnowski , Philippe Toullet , Audrey Fontaine , Yann Le Lay , Julia Boivin , Eric Bérard , Maria Bodoria , Vincent Gautheron , Javier De la Cruz

An early onset benign myopathy with glycogen storage caused by a de novo 1.4 Mb-deletion of chromosome 14.

Neuromuscular disorders : NMD

Avec: Gianmarco Severa , Alessandra Pennisi , Christine Barnerias , Chiara Fiorillo , Marcello Scala , Valentina Taglietti , Andreea Iuliana Cojocaru , Dima Jouni , Lucie Tosca , Gérard Tachdjian , François-Jérome Authier , Robert-Yves Carlier , Corinne Metay , Camille Verebi , Edoardo Malfatti

Periodic electroencephalographic discharges and epileptic spasms involve cortico-striatal-thalamic loops on Arterial Spin Labeling Magnetic Resonance Imaging.

Brain communications

Avec: Monika Eisermann , Ludovic Fillon , Ana Saitovitch , Jennifer Boisgontier , Alice Vinçon-Leite , Volodia Dangouloff-Ros , Thomas Blauwblomme , Marie Bourgeois , Marie-Thérèse Dangles , Delphine Coste-Zeitoun , Patricia Vignolo-Diard , Mélodie Aubart , Manoelle Kossorotoff , Marie Hully , Emma Losito , Nicole Chemaly , Monica Zilbovicius , Rima Nabbout , Nathalie Boddaert , Anna Kaminska

Clinical and radiological description of 120 pediatric stroke-like episodes.

European journal of neurology

Avec: Chloe Durrleman , David Grevent , Melodie Aubart , Manoelle Kossorotoff , Charles-Joris Roux , Anna Kaminska , Marlene Rio , Giulia Barcia , Nathalie Boddaert , Arnold Munnich , Rima Nabbout ,

Safety and effectiveness of ataluren in patients with nonsense mutation DMD in the STRIDE Registry compared with the CINRG Duchenne Natural History Study (2015-2022): 2022 interim analysis.

Journal of neurology

Avec: Eugenio Mercuri , Andrés Nascimento Osorio , Francesco Muntoni , Filippo Buccella , Janbernd Kirschner , Már Tulinius , Maria Bernadete Dutra de Resende , Lauren P Morgenroth , Heather Gordish-Dressman , Shelley Johnson , Allan Kristensen , Christian Werner , Panayiota Trifillis , Erik K Henricson , Craig M McDonald , Auteur inconnu

Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases.

The Journal of experimental medicine

Avec: Jérémie Rosain , Tom Le Voyer , Xian Liu , Adrian Gervais , Laura Polivka , Axel Cederholm , Laureline Berteloot , Audrey V Parent , Alessandra Pescatore , Ezia Spinosa , Snezana Minic , Ana Elisa Kiszewski , Miyuki Tsumura , Chloé Thibault , Maria Esnaola Azcoiti , Jelena Martinovic , Quentin Philippot , Taushif Khan , Astrid Marchal , Bénédicte Charmeteau-De Muylder , Lucy Bizien , Caroline Deswarte , Lillia Hadjem , Marie-Odile Fauvarque , Karim Dorgham , Daniel Eriksson , Emilia Liana Falcone , Mathilde Puel , Sinem Ünal , Amyrath Geraldo , Corentin Le Floc'h , Hailun Li , Sylvie Rheault , Christine Muti , Claire Bobrie-Moyrand , Anne Welfringer-Morin , Ramsay L Fuleihan , Romain Lévy , Marie Roelens , Liwei Gao , Marie Materna , Silvia Pellegrini , Lorenzo Piemonti , Emilie Catherinot , Jean-Christophe Goffard , Arnaud Fekkar , Aissata Sacko-Sow , Camille Soudée , Soraya Boucherit , Anna-Lena Neehus , Cristina Has , Stefanie Hübner , Géraldine Blanchard-Rohner , Blanca Amador-Borrero , Takanori Utsumi , Maki Taniguchi , Hiroo Tani , Kazushi Izawa , Takahiro Yasumi , Sotaro Kanai , Mélanie Migaud , Mélodie Aubart , Nathalie Lambert , Guy Gorochov , Capucine Picard , Claire Soudais , Anne-Sophie L'Honneur , Flore Rozenberg , Joshua D Milner , Shen-Ying Zhang , Pierre Vabres , Dusan Trpinac , Nico Marr , Nathalie Boddaert , Manolis Pasparakis , Corey N Miller , Cláudia S Poziomczyk , Laurent Abel , Satoshi Okada , Emmanuelle Jouanguy , Rémi Cheynier , Qian Zhang , Aurélie Cobat , Vivien Béziat , Bertrand Boisson , Julie Steffann , Francesca Fusco , Matilde Valeria Ursini , Smail Hadj-Rabia , Christine Bodemer , Jacinta Bustamante , Hervé Luche , Anne Puel , Gilles Courtois , Paul Bastard , Nils Landegren , Mark S Anderson , Jean-Laurent Casanova

Thoracic circumference: A new outcome measure in spinal muscular atrophy type 1?

Neuromuscular disorders : NMD

Avec: Juliette Ropars , Christine Barnerias , Marie Hully , Delphine Chabalier , Sylviane Peudenier , Audrey Barzic , Pierrick Cros ,

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 , Nadia Bahi-Buisson , Anna Kaminska , Pascal Benquet , Rima Nabbout

Spinal muscular atrophy with respiratory distress type 1: A multicenter retrospective study.

Neuromuscular disorders : NMD

Avec: Agnès Viguier , Valérie Lauwers-Cances , Pascal Cintas , Véronique Manel , Sylviane Peudenier , Susana Quijano-Roy , Catherine Vanhulle , Mélanie Fradin , Arnaud Isapof , Michaël Jokic , Michèle Mathieu-Dramard , Klaus Dieterich , Florence Petit , Corinne Magdelaine , Fabienne Giuliano , Domitille Gras , Damien Haye , Mathilde Nizon , Maryse Magen , Eric Bieth , Claude Cances

Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies.

Circulation

Avec: Karim Wahbi , Rabah Ben Yaou , Estelle Gandjbakhch , Frédéric Anselme , Thomas Gossios , Neal K Lakdawala , Caroline Stalens , Frédéric Sacher , Dominique Babuty , Jean-Noel Trochu , Ghassan Moubarak , Kostantinos Savvatis , Raphaël Porcher , Pascal Laforêt , Abdallah Fayssoil , Eloi Marijon , Tanya Stojkovic , Anthony Béhin , Sarah Leonard-Louis , Guilhem Sole , Fabien Labombarda , Pascale Richard , Corinne Metay , Susana Quijano-Roy , Ivana Dabaj , Didier Klug , Marie-Christine Vantyghem , Philippe Chevalier , Pierre Ambrosi , Emmanuelle Salort , Nicolas Sadoul , Xavier Waintraub , Khadija Chikhaoui , Philippe Mabo , Nicolas Combes , Philippe Maury , Jean-Marc Sellal , Usha B Tedrow , Jonathan M Kalman , Jitendra Vohra , Alexander F A Androulakis , Katja Zeppenfeld , Tina Thompson , Christine Barnerias , Henri-Marc Bécane , Eric Bieth , Franck Boccara , Damien Bonnet , Françoise Bouhour , Stéphane Boulé , Anne-Claire Brehin , Françoise Chapon , Pascal Cintas , Jean-Marie Cuisset , Jean-Marc Davy , Annachiara De Sandre-Giovannoli , Florence Demurger , Klaus Dieterich , Julien Durigneux , Andoni Echaniz-Laguna , Romain Eschalier , Ana Ferreiro , Xavier Ferrer , Christine Francannet , Mélanie Fradin , Bénédicte Gaborit , Arnaud Gay , Albert Hagège , Arnaud Isapof , Isabelle Jeru , Raul Juntas Morales , Emmanuelle Lagrue , Nicolas Lamblin , Olivier Lascols , Vincent Laugel , Arnaud Lazarus , France Leturcq , Nicolas Levy , Armelle Magot , Véronique Manel , Raphaël Martins , Michèle Mayer , Sandra Mercier , Christophe Meune , Maud Michaud , Marie-Christine Minot-Myhié , Antoine Muchir , Aleksandra Nadaj-Pakleza , Yann Péréon , Philippe Petiot , Florence Petit , Julien Praline , Anne Rollin , Pascal Sabouraud , Catherine Sarret , Stéphane Schaeffer , Frederic Taithe , Céline Tard , Vincent Tiffreau , Annick Toutain , Camille Vatier , Ulrike Walther-Louvier , Bruno Eymard , Philippe Charron , Corinne Vigouroux , Gisèle Bonne , Saurabh Kumar , Perry Elliott , Denis Duboc

Guidance for the care of neuromuscular patients during the COVID-19 pandemic outbreak from the French Rare Health Care for Neuromuscular Diseases Network.

Revue neurologique

Avec: G Solé , E Salort-Campana , Y Pereon , T Stojkovic , K Wahbi , P Cintas , D Adams , P Laforet , V Tiffreau , I Desguerre , L I Pisella , A Molon , S Attarian , Auteur inconnu

Derivation and Characterization of Immortalized Human Muscle Satellite Cell Clones from Muscular Dystrophy Patients and Healthy Individuals.

Cells

Avec: Jimmy Massenet , Cyril Gitiaux , Mélanie Magnan , Sylvain Cuvellier , Arnaud Hubas , Patrick Nusbaum , F Jeffrey Dilworth , Bénédicte Chazaud

Dosing Recommendations for Lamotrigine in Children: Evaluation Based on Previous and New Population Pharmacokinetic Models.

Journal of clinical pharmacology

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 , Nadia Bahi-Buisson , Mara Cavallin , Andrea Accogli , Marie Burgeois , Valeria Capra , Virgine Chaves-Vischer , Luisa Chiapparini , GiovannaStefania Colafati , Stefano D'Arrigo , 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

Predictive Performance of Population Pharmacokinetic Models of Levetiracetam in Children and Evaluation of Dosing Regimen.

Journal of clinical pharmacology

Avec: Manon Tauzin , Jean-Marc Tréluyer , Rima Nabbout , Nicole Chemaly , Thierry Billette de Villemeur , Gabrielle Lui , Ines Gana , Sana Boujaafar , Yi Zheng , Sihem Benaboud , Naim Bouazza , Camille Chenevier-Gobeaux , Cécile Freihuber , Déborah Hirt

Jerking during absences: video-EEG and polygraphy of epileptic myoclonus associated with two paediatric epilepsy syndromes.

Epileptic disorders : international epilepsy journal with videotape

Avec: Marc Abi Aoun , Monika Eisermann , Nicole Chemaly , Emma Losito , Rima Nabbout , Anna Kaminska

Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency.

Journal of medical genetics

Avec: Abdellah Tebani , Bénédicte Sudrié-Arnaud , Ivana Dabaj , Stéphanie Torre , Laur Domitille , Sarah Snanoudj , Benedicte Heron , Thierry Levade , Catherine Caillaud , Sabrina Vergnaud , Pascale Saugier-Veber , Sophie Coutant , Hélène Dranguet , Roseline Froissart , Majed Al Khouri , Yves Alembik , Julien Baruteau , Jean-Baptiste Arnoux , Anais Brassier , Anne-Claire Brehin , Tiffany Busa , Aline Cano , Brigitte Chabrol , Christine Coubes , Martine Doco-Fenzy , Bernard Drenou , Nursel H Elcioglu , Solaf Elsayed , Alain Fouilhoux , Céline Poirsier , Alice Goldenberg , Philippe Jouvencel , Alice Kuster , François Labarthe , Leila Lazaro , Samia Pichard , Serge Rivera , Sandrine Roche , Stéphanie Roggerone , Agathe Roubertie , Sabine Sigaudy , Marta Spodenkiewicz , Marine Tardieu , Catherine Vanhulle , Stéphane Marret , Soumeya Bekri

Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum.

American journal of medical genetics. Part A

Avec: Yanick J Crow , Heather Marshall , Gillian I Rice , Luis Seabra , Emma M Jenkinson , Kristin Baranano , Roberta Battini , Andrea Berger , Edward Blair , Thomas Blauwblomme , Francois Bolduc , Natalie Boddaert , Johannes Buckard , Heather Burnett , Sophie Calvert , Roseline Caumes , Andy Cheuk-Him Ng , Diana Chiang , David B Clifford , Duccio M Cordelli , Anna de Burca , Natasha Demic , Liesbeth De Waele , Alessio Di Fonzo , S Richard Dunham , Sarah Dyack , Frances Elmslie , Mickaël Ferrand , Gemma Fisher , Ehsan Ghayoor Karimiani , Jamal Ghoumid , Frances Gibbon , Himanshu Goel , Hilde T Hilmarsen , Imelda Hughes , Anu Jacob , Elizabeth A Jones , Ram Kumar , Richard J Leventer , Shelley MacDonald , Reza Maroofian , Sarju G Mehta , Imke Metz , Edoardo Monfrini , Daniela Neumann , Michael Noetzel , Mary O'Driscoll , Katrin Õunap , Axel Panzer , Sumit Parikh , Prab Prabhakar , Francis Ramond , Richard Sandford , Russell Saneto , Calvin Soh , Chloe A Stutterd , Gopinath M Subramanian , Kevin Talbot , Rhys H Thomas , Camilo Toro , Renaud Touraine , Emma Wakeling , Evangeline Wassmer , Andrea Whitney , John H Livingston , Raymond T O'Keefe , Andrew P Badrock

Expert recommendations and clinical considerations in the use of onasemnogene abeparvovec gene therapy for spinal muscular atrophy.

Muscle & nerve

Avec: Elizabeth A Kichula , Crystal M Proud , Michelle A Farrar , Jennifer M Kwon , Kayoko Saito , Hugh J McMillan

International retrospective natural history study of

Brain communications

Avec: Rabah Ben Yaou , Pomi Yun , Ivana Dabaj , Gina Norato , Sandra Donkervoort , Hui Xiong , Andrés Nascimento , Lorenzo Maggi , Anna Sarkozy , Soledad Monges , Marta Bertoli , Hirofumi Komaki , Michèle Mayer , Eugenio Mercuri , Edmar Zanoteli , Claudia Castiglioni , Chiara Marini-Bettolo , Adele D'Amico , Nicolas Deconinck , Ricardo Erazo-Torricelli , Juliana Gurgel-Giannetti , Akihiko Ishiyama , Karin S Kleinsteuber , Emmanuelle Lagrue , Vincent Laugel , Sandra Mercier , Sonia Messina , Luisa Politano , Monique M Ryan , Pascal Sabouraud , Ulrike Schara , Gabriele Siciliano , Liliana Vercelli , Thomas Voit , Grace Yoon , Rachel Alvarez , Francesco Muntoni , Tyler M Pierson , David Gómez-Andrés , A Reghan Foley , Susana Quijano-Roy , Carsten G Bönnemann , Gisèle Bonne

Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry.

Journal of neuromuscular diseases

Avec: Laurent Servais , John W Day , Darryl C De Vivo , Janbernd Kirschner , Eugenio Mercuri , Francesco Muntoni , Crystal M Proud , Perry B Shieh , Eduardo F Tizzano , Susana Quijano-Roy , Kayoko Saito , Eric Faulkner , Kamal M Benguerba , Dheeraj Raju , Nicole LaMarca , Rui Sun , Frederick A Anderson , Richard S Finkel

Indications and Safety of Rituximab in Pediatric Neurology: A 10-Year Retrospective Study.

Pediatric neurology

Avec: Ai Tien Nguyen , Camille Cotteret , Chloé Durrleman , Christine Barnerias , Marie Hully , Cyril Gitiaux , Bettina Mesples , Jacinta Bustamante , Stéphanie Chhun , Claire Fayard , Salvatore Cisternino , Jean-Marc Treluyer , Mélodie Aubart

Motor outcomes in patients with infantile and juvenile Pompe disease: Lessons from neurophysiological findings.

Molecular genetics and metabolism

Avec: Anaïs Brassier , Samia Pichard , Manuel Schiff , Juliette Bouchereau , Claire-Marine Bérat , Catherine Caillaud , Aude Pion , Diala Khraiche , Brigitte Fauroux , Mehdi Oualha , Christine Barnerias , Marie Hully , Marion Maquet , Elodie Deladrière , Pascale de Lonlay , Cyril Gitiaux

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

Frontiers in neurology

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

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy.

The Journal of clinical investigation

Avec: Devesh C Pant , Imen Dorboz , Agatha Schluter , Stéphane Fourcade , Nathalie Launay , Javier Joya , Sergio Aguilera-Albesa , Maria Eugenia Yoldi , Carlos Casasnovas , Mary J Willis , Montserrat Ruiz , Dorothée Ville , Gaetan Lesca , Karine Siquier-Pernet , Huifang Yan , Jingmin Wang , Margit Burmeister , Lauren Brady , Mark Tarnopolsky , Carles Cornet , Davide Rubbini , Javier Terriente , Kiely N James , Damir Musaev , Maha S Zaki , Marc C Patterson , Brendan C Lanpher , Eric W Klee , Filippo Pinto E Vairo , Elizabeth Wohler , Nara Lygia de M Sobreira , Julie S Cohen , Reza Maroofian , Hamid Galehdari , Neda Mazaheri , Gholamreza Shariati , Laurence Colleaux , Diana Rodriguez , Joseph G Gleeson , Cristina Pujades , Ali Fatemi , Odile Boespflug-Tanguy , Aurora Pujol

The role of the neuropediatrician in pediatric intensive care unit: Diagnosis, therapeutics and major participation in collaborative multidisciplinary deliberations about life-sustaining treatments' withdrawal.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Avec: J Toulouse , M Hully , D Brossier , M-L Viallard , L de Saint Blanquat , S Renolleau , M Kossorotoff , I Desguerre

Deep phenotyping unstructured data mining in an extensive pediatric database to unravel a common KCNA2 variant in neurodevelopmental syndromes.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Marie Hully , Tommaso Lo Barco , Anna Kaminska , Giulia Barcia , Claude Cances , Cyril Mignot , Nicolas Garcelon , Edor Kabashi , Rima Nabbout

Association between prophylactic angiotensin-converting enzyme inhibitors and overall survival in Duchenne muscular dystrophy-analysis of registry data.

European heart journal

Avec: Raphaël Porcher , Helge Amthor , Brigitte Chabrol , Frédérique Audic , François Rivier , Arnaud Isapof , Vincent Tiffreau , Emmanuelle Campana-Salort , France Leturcq , Sylvie Tuffery-Giraud , Rabah Ben Yaou , Djillali Annane , Pascal Amédro , Christine Barnerias , Henri Marc Bécane , Anthony Béhin , Damien Bonnet , Guillaume Bassez , Mireille Cossée , Grégoire de La Villéon , Claire Delcourte , Abdallah Fayssoil , Bertand Fontaine , François Godart , Sophie Guillaumont , Emmanuelle Jaillette , Pascal Laforêt , Sarah Leonard-Louis , Frederic Lofaso , Michele Mayer , Raul Juntas Morales , Christophe Meune , David Orlikowski , Caroline Ovaert , Hélène Prigent , Malika Saadi , Maximilien Sochala , Celine Tard , Guy Vaksmann , Ulrike Walther-Louvier , Bruno Eymard , Tanya Stojkovic , Philippe Ravaud , Denis Duboc , Karim Wahbi

Assessment of respiratory muscles and motor function in children with SMA treated by nusinersen.

Pediatric pulmonology

Avec: Marta Gómez-García de la Banda , Alessandro Amaddeo , Sonia Khirani , Sandrine Pruvost , Christine Barnerias , Ivana Dabaj , Audrey Bénézit , Julien Durigneux , Robert Y Carlier , Susana Quijano-Roy , Brigitte Fauroux

Biallelic

Haematologica

Avec: Giulia Barcia , Dinusha Pandithan , Benedetta Ruzzenente , Zahra Assouline , Alessandra Pennisi , Clothilde Ormieres , Claude Besmond , Charles-Joris Roux , Nathalie Boddaert , David R Thorburn , Drago Bratkovic , Arnold Munnich , Jean-Paul Bonnefont , Agnès Rötig , Julie Steffann

Postnatal Diagnostic Workup in Children With Arthrogryposis: A Series of 82 Patients.

Journal of child neurology

Avec: Judith Chareyre , Antoine Neuraz , Alina Badina , Christine Barnerias , Marie Hully , Elsa Kermorvant-Duchemin , Elise Leroy-Terquem , Robert Y Carlier , Judith Melki , Cyril Gitiaux

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 , Nadia Bahi-Buisson , Mélodie Aubart

Polysomnography findings and respiratory muscle function in infants with early onset spinal muscular atrophy after gene replacement as monotherapy: A prospective study.

Sleep medicine

Avec: Rémi Barrois , Lucie Griffon , Christine Barnerias , Cyril Gitiaux , Brigitte Fauroux , Sonia Khirani

JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach Study.

Journal of clinical immunology

Avec: Marie-Louise Frémond , Marie Hully , Benjamin Fournier , Rémi Barrois , Romain Lévy , Mélodie Aubart , Martin Castelle , Delphine Chabalier , Clarisse Gins , Eugénie Sarda , Buthaina Al Adba , Sophie Couderc , Céline D' Almeida , Claire-Marine Berat , Chloé Durrleman , Caroline Espil , Laetitia Lambert , Cécile Méni , Maximilien Périvier , Pascal Pillet , Laura Polivka , Manuel Schiff , Calina Todosi , Florence Uettwiller , Alice Lepelley , Gillian I Rice , Luis Seabra , Sylvia Sanquer , Anne Hulin , Claire Pressiat , Lauriane Goldwirt , Vincent Bondet , Darragh Duffy , Despina Moshous , Brigitte Bader-Meunier , Christine Bodemer , Florence Robin-Renaldo , Nathalie Boddaert , Stéphane Blanche , Yanick J Crow , Bénédicte Neven

Identifying interindividual variability of social perception and associated brain anatomical correlations in children with autism spectrum disorder using eye-tracking and diffusion tensor imaging MRI (DTI-MRI).

Cerebral cortex (New York, N.Y. : 1991)

Avec: Alice Vinçon-Leite , Ana Saitovitch , Herve Lemaître , Elza Rechtman , Jennifer Boisgontier , Ludovic Fillon , Anne Philippe , Marlène Rio , Aurélie Fabre , Khawla Aljabali , Nathalie Boddaert , Monica Zilbovicius

Parents' dilemma: A therapeutic decision for children with spinal muscular atrophy (SMA) type 1.

Frontiers in pediatrics

Avec: Sophie Boursange , Marco Araneda , Caroline Stalens , Christine Barnerias , Marie-Christine Nougues , Arnaud Isapof , Susana Quijano-Roy , Nadia Blu Genestine , Laetitia Ouillade , Maripaz Martinez Jalilie , Claudia Castiglioni , Odile Boespflug-Tanguy , Marcela Gargiulo , Auteur inconnu

A new score combining compound muscle action potential (CMAP) amplitudes and motor score is predictive of motor outcome after AVXS-101 (Onasemnogene Abeparvovec) SMA therapy.

Neuromuscular disorders : NMD

Avec: R Barrois , C Barnerias , E Deladrière , V Leloup-Germa , B Tervil , F Audic , C Boulay , C Cances , P Cintas , J B Davion , C Espil-Taris , V Manel , Y Pereon , J Piarroux , S Quijano Roy , C Vuillerot , U Walther-Louvier , I Desguerre , C Gitiaux

YWHAE loss of function causes a rare neurodevelopmental disease with brain abnormalities in human and mouse.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Anne-Sophie Denommé-Pichon , Stephan C Collins , Ange-Line Bruel , Anna Mikhaleva , Christel Wagner , Valerie E Vancollie , Quentin Thomas , Martin Chevarin , Mathys Weber , Carlos E Prada , Alexis Overs , María Palomares-Bralo , Fernando Santos-Simarro , Marta Pacio-Míguez , Tiffany Busa , Eric Legius , Carlos A Bacino , Jill A Rosenfeld , Gwenaël Le Guyader , Matthieu Egloff , Xavier Le Guillou , Maria Antonietta Mencarelli , Alessandra Renieri , Salvatore Grosso , Jonathan Levy , Blandine Dozières , Antonio Vitobello , Yannis Duffourd , Christopher J Lelliott , Christel Thauvin-Robinet , Christophe Philippe , Laurence Faivre , Binnaz Yalcin

Genetic testing, another important tool in presurgical evaluation of focal epilepsies in childhood.

Epilepsia open

Avec: Rocio Garcia-Uzquiano , Giulia Barcia , Emma Losito , Nicole Chemaly , Anna Kaminska , Thomas Blauwblomme , Nathalie Boddaert , Rima Nabbout

Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency.

Neurology. Genetics

Avec: Agnès Rötig , Pauline Gaignard , Giulia Barcia , Zahra Assouline , Claire-Marine Berat , Magalie Barth , Léna Damaj , Nolwenn Laborde , Marie-Thérèse Abi-Warde , Brigitte Chabrol , Pascale De Lonlay , Alice Goldenberg , Emmanuel Gonzales , Emmanuel Jacquemin , Patrizia Amati-Bonneau , Dominique Bonneau , Véronique Abadie , Chrystèle Bonnemains , Pierre Broue , Anne De Saint-Martin , Philippe Durand , Alain Fouilhoux , Bertrand Isidor , Marianne Jaroussie , Guillaume Jedraszak , Hélène Maurey , Karine Mention , Sylvie S Odent , Laurent Pasquier , Christelle Rougeot-Jung , Cyril Gitiaux , Charles-Joris Roux , Nathalie Boddaert , Arnold Munnich , Manuel Schiff

Safety of Obinutuzumab in Children With Autoimmune Encephalitis and Early B-Cell Repopulation on Rituximab.

Pediatric neurology

Avec: Ai-Tien Nguyen , Camille Cotteret , Clarisse Gins , Eugénie Sarda , Chloé Durrleman , Bettina Mesples , Jacinta Bustamante , Claire Fayard , Salvatore Cisternino , Mélodie Aubart

Real-world multidisciplinary outcomes of onasemnogene abeparvovec monotherapy in patients with spinal muscular atrophy type 1: experience of the French cohort in the first three years of treatment.

Orphanet journal of rare diseases

Avec: Rémi Barrois , Frédérique Audic , Christine Barnerias , Brigitte Chabrol , Jean Baptiste Davion , Julien Durigneux , Caroline Espil-Taris , Marta Gomez-Garcia de la Banda , Marine Guichard , Arnaud Isapof , Marie Christine Nougues , Vincent Laugel , Laure Le Goff , Sandra Mercier , Anne Pervillé , Christian Richelme , Marie Thibaud , Catherine Sarret , Cyril Schweitzer , Hervé Testard , Valérie Trommsdorff , Catherine Vanhulle , Ulrike Walther-Louvier , Cécilia Altuzarra , Mondher Chouchane , Juliette Ropars , Susana Quijano-Roy , Claude Cances

Exome sequencing findings in 27 patients with myoclonic-atonic epilepsy: Is there a major genetic factor?

Clinical genetics

Avec: Laura Routier , Florine Verny , Giulia Barcia , Nicole Chemaly , Laurence Colleaux , Rima Nabbout

How can transition to adult care be best orchestrated for adolescents with epilepsy?

Epilepsy & behavior : E&B

Avec: Peter R Camfield , Danielle Andrade , Carole S Camfield , Jaime Carrizosa-Moog , Richard Appleton , Michel Baulac , Lawrence Brown , Eleonor Ben Menachem , Helen Cross , Christina Grant , Hassan Hosny , Laura Jurasek , Marco Mula , Margarete Pfäfflin , Sylvain Rheims , Howard Ring , Renée A Shellhaas , K P Vinayan , Elaine Wirrell , Rima Nabbout

Autism spectrum disorder and cognitive profile in children with Dravet syndrome: Delineation of a specific phenotype.

Epilepsia open

Avec: Lisa Ouss , Dorothee Leunen , Jacques Laschet , Nicole Chemaly , Giulia Barcia , Emma M Losito , Aveline Aouidad , Zoe Barrault , Delphine Breuillard , Rima Nabbout

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.

Journal of medical genetics

Avec: Annie Laquerriere , Dana Jaber , Emanuela Abiusi , Jérome Maluenda , Dan Mejlachowicz , Alexandre Vivanti , Klaus Dieterich , Radka Stoeva , Loic Quevarec , Flora Nolent , Valerie Biancalana , Philippe Latour , Damien Sternberg , Yline Capri , Alain Verloes , Bettina Bessieres , Laurence Loeuillet , Tania Attie-Bitach , Jelena Martinovic , Sophie Blesson , Florence Petit , Claire Beneteau , Sandra Whalen , Florent Marguet , Jerome Bouligand , Delphine Héron , Géraldine Viot , Jeanne Amiel , Daniel Amram , Céline Bellesme , Martine Bucourt , Laurence Faivre , Pierre-Simon Jouk , Suonavy Khung , Sabine Sigaudy , Anne-Lise Delezoide , Alice Goldenberg , Marie-Line Jacquemont , Laetitia Lambert , Valérie Layet , Stanislas Lyonnet , Arnold Munnich , Lionel Van Maldergem , Juliette Piard , Fabien Guimiot , Pierre Landrieu , Pascaline Letard , Fanny Pelluard , Laurence Perrin , Marie-Hélène Saint-Frison , Haluk Topaloglu , Laetitia Trestard , Catherine Vincent-Delorme , Helge Amthor , Christine Barnerias , Alexandra Benachi , Eric Bieth , Elise Boucher , Valerie Cormier-Daire , Andrée Delahaye-Duriez , Bruno Eymard , Christine Francannet , Sarah Grotto , Didier Lacombe , Fanny Laffargue , Marine Legendre , Dominique Martin-Coignard , André Mégarbané , Sandra Mercier , Mathilde Nizon , Luc Rigonnot , Fabienne Prieur , Chloé Quélin , Hanitra Ranjatoelina-Randrianaivo , Nicoletta Resta , Annick Toutain , Helene Verhelst , Marie Vincent , Estelle Colin , Catherine Fallet-Bianco , Michèle Granier , Romulus Grigorescu , Julien Saada , Marie Gonzales , Anne Guiochon-Mantel , Jean-Louis Bessereau , Marcel Tawk , Ivo Gut , Cyril Gitiaux , Judith Melki

Clinical correlations and long-term follow-up in 100 patients with sarcoglycanopathies.

European journal of neurology

Avec: R Guimarães-Costa , G Fernández-Eulate , K Wahbi , F Leturcq , E Malfatti , A Behin , S Leonard-Louis , I Desguerre , C Barnerias , M C Nougues , A Isapof , B Estournet-Mathiaud , S Quijano-Roy , A Fayssoil , D Orlikowski , B Fauroux , I Richard , C Semplicini , N B Romero , G Querin , B Eymard , P Laforêt , T Stojkovic

Very Low Residual Dystrophin Quantity Is Associated with Milder Dystrophinopathy.

Annals of neurology

Avec: Yvan de Feraudy , Rabah Ben Yaou , Karim Wahbi , Caroline Stalens , Amalia Stantzou , Vincent Laugel , Auteur inconnu , Laurent Servais , France Leturcq , Helge Amthor

Determinants of satisfaction with motor rehabilitation in people with cerebral palsy: A national survey in France (ESPaCe).

Annals of physical and rehabilitation medicine

Avec: G Cornec , G Drewnowski , I Desguerre , P Toullet , J Boivin , M Bodoria , J De La Cruz , S Brochard , Auteur inconnu

Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations.

Molecular genetics and metabolism

Avec: Charles-Joris Roux , Giulia Barcia , Manuel Schiff , Marie Sissler , Raphaël Levy , Volodia Dangouloff-Ros , Shimon Edvardson , Orli Elpeleg , Agnès Rötig , Arnold Munnich , Nathalie Boddaert

Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival.

European journal of human genetics : EJHG

Avec: Giulia Barcia , Marlène Rio , Zahra Assouline , Coralie Zangarelli , Charles-Joris Roux , Pascale de Lonlay , Julie Steffann , Arnold Munnich , Jean-Paul Bonnefont , Nathalie Boddaert , Agnès Rötig , Metodi D Metodiev , Benedetta Ruzzenente

From Diagnosis to Prognosis: Revisiting the Meaning of Muscle ISG15 Overexpression in Juvenile Inflammatory Myopathies.

Arthritis & rheumatology (Hoboken, N.J.)

Avec: Cyrielle Hou , Chloé Durrleman , Baptiste Periou , Christine Barnerias , Christine Bodemer , Pierre Quartier , Isabelle Melki , Gillian I Rice , Mathieu P Rodero , Jean-Luc Charuel , Fréderic Relaix , Brigitte Bader-Meunier , FrançoisJérôme Authier , Cyril Gitiaux

Minimally Invasive Fusionless Surgery for Scoliosis in Spinal Muscular Atrophy: Long-term Follow-up Results in a Series of 59 Patients.

Journal of pediatric orthopedics

Avec: Mathilde Gaume , Etienne Saudeau , Marta Gomez-Garcia de la Banda , Viviane Azzi-Salameh , Blaise Mbieleu , Delphine Verollet , Audrey Benezit , Jean Bergounioux , Aben Essid , Isabelle Doehring , Ivana Dabaj , Christine Barnerias , Vicken Topouchian , Christophe Glorion , Susana Quijano-Roy , Lotfi Miladi

Rituximab Therapy in the Treatment of Juvenile Myasthenia Gravis: The French Experience.

Neurology

Avec: Agathe Molimard , Cyril Gitiaux , Christine Barnerias , Frédérique Audic , Arnaud Isapof , Ulrike Walther-Louvier , Claude Cances , Caroline Espil-Taris , Jean-Baptiste Davion , Susana Quijano-Roy , Coraline Grisel , Brigitte Chabrol ,

Perioperative complications after posterior spinal fusion versus minimally invasive fusionless surgery in neuromuscular scoliosis: a comparative study.

Archives of orthopaedic and trauma surgery

Avec: Mathilde Gaume , Josiane Njiki , Isabelle Vaugier , Gilles Orliaguet , Delphine Verollet , Christophe Glorion , Aben Essid , Blaise Mbieleu , Justine Zini , Abdallah Fayssoile , Susana Quijano-Roy , Lotfi Miladi , Jean Bergounioux

Limitations of the apnea-hypopnea index in children and young adults with neuromuscular disorders.

Neuromuscular disorders : NMD

Avec: Lucia Ronco , Sonia Khirani , Meryl Vedrenne-Cloquet , Remi Barrois , Christine Barnerias , Elisabetta Bignamini , Brigitte Fauroux

Spectrum of neuroradiological manifestations in primary hemophagocytic lymphohistiocytosis: a comparative study of EBV-induced versus non-EBV-induced forms in 75 genetically confirmed pediatric cases.

European radiology

Avec: Hélène Charpentier , Charles-Joris Roux , Pauline Leroux , Coralie Briand , Raphaël Levy , Volodia Dangouloff-Ros , Bénédicte Neven , Despina Moshous , Nathalie Boddaert

Severe and fatal neonatal infections linked to a new variant of echovirus 11, France, July 2022 to April 2023.

Euro surveillance : bulletin Europeen sur les maladies transmissibles = European communicable disease bulletin

Avec: Mathilde Grapin , Audrey Mirand , Didier Pinquier , Aurélie Basset , Matthieu Bendavid , Maxime Bisseux , Marion Jeannoël , Bérengère Kireche , Manoelle Kossorotoff , Anne-Sophie L'Honneur , Lila Robin , Yves Ville , Sylvain Renolleau , Véronique Lemee , Pierre-Henri Jarreau , Florence Lacaille , Marianne Leruez-Ville , Clémence Guillaume , Cécile Henquell , Alexandre Lapillonne , Isabelle Schuffenecker , Mélodie Aubart

Combination disease-modifying treatment in spinal muscular atrophy: A proposed classification.

Annals of clinical and translational neurology

Avec: Crystal M Proud , Eugenio Mercuri , Richard S Finkel , Janbernd Kirschner , Darryl C De Vivo , Francesco Muntoni , Kayoko Saito , Eduardo F Tizzano , Susana Quijano-Roy , Kamal Benguerba , Dheeraj Raju , Eric Faulkner , Laurent Servais

Myopathologic trajectory in Duchenne muscular dystrophy (DMD) reveals lack of regeneration due to senescence in satellite cells.

Acta neuropathologica communications

Avec: Nastasia Cardone , Valentina Taglietti , Serena Baratto , Kaouthar Kefi , Baptiste Periou , Ciryl Gitiaux , Christine Barnerias , Peggy Lafuste , France Leturcq Pharm , Juliette Nectoux Pharm , Chiara Panicucci , Claudio Bruno , François-Jerome Authier , Chiara Fiorillo , Frederic Relaix , Edoardo Malfatti

Recurrent "outsider" intronic variation in the

Frontiers in genetics

Avec: Lamisse Mansour-Hendili , Cyril Gitiaux , Madeleine Harion , Céline Latouche , Bénédicte Heron , Tanya Stojkovic , Mélanie Rama , Thomas Smol , Anne Sophie Jourdain , Karine Mention , Yann Nadjar , Manuel Schiff , Julie Lemale , Jamal Ghoumid , Frédéric Gottrand , Cécile Talbotec , Agnès Rötig , Benoît Funalot ,

Effect of nusinersen after 3 years of treatment in 57 young children with SMA in terms of SMN2 copy number or type.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie

Avec: Frédérique Audic , Sonia M Dubois , Julien Durigneux , Christine Barnerias , Arnaud Isapof , Marie-Christine Nougues , Jean-Baptiste Davion , Christian Richelme , Carole Vuillerot , Laure Legoff , Pascal Sabouraud , Claude Cances , Vincent Laugel , Juliette Ropars , Caroline Espil-Taris , Valérie Trommsdorff , Anne Pervillé , Marta Gomez Garcia-de-la-Banda , Hervé Testard , Mondher Chouchane , Ulrike Walther-Louvier , Cyril Schweizer , Cécile Halbert , Myriam Badri , Susana Quijano-Roy , Brigitte Chabrol ,

Vitamin deficiencies in children: Lessons from clinical and neuroimaging findings.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Avec: Gabrielle Dupuy , Charles-Joris Roux , Rémi Barrois , Apolline Imbard , Clément Pontoizeau , Marie Thérèse Dangles , Mélodie Aubart , Jean-Baptiste Arnoux , Diane Margoses , Anaïs Brassier , Clothilde Marbach , Claire-Marine Bérat , Eugénie Sarda , Cyril Gitiaux , Pascale de Lonlay , Nathalie Boddaert , Manuel Schiff ,

Acceptability, validity and responsiveness of inertial measurement units for assessing motor recovery after gene therapy in infants with early onset spinal muscular atrophy: a prospective cohort study.

Journal of neuroengineering and rehabilitation

Avec: R Barrois , B Tervil , M Cacioppo , C Barnerias , E Deladrière , V Leloup-Germa , A Hervé , L Oudre , D Ricard , P P Vidal , N Vayatis , S Quijano Roy , S Brochard , C Gitiaux , I Desguerre

Mortality and Neurologic Sequelae in Influenza-Associated Encephalopathy: Retrospective Multicenter PICU Cohort in France.

Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies

Avec: Pierre Cleuziou , Florence Renaldo , Sylvain Renolleau , Etienne Javouhey , Pierre Tissieres , Pierre-Louis Léger , Jean Bergounioux , Stéphane Dauger , Michaël Levy , Auteur inconnu

Ethical aspects in the care of a child with infantile spinal muscular atrophy (SMA).

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie

Avec: B Chabrol , I Desguerre

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

Behavior and interaction imaging at 9 months of age predict autism/intellectual disability in high-risk infants with West syndrome.

Translational psychiatry

Avec: Lisa Ouss , Giuseppe Palestra , Catherine Saint-Georges , Marluce Leitgel Gille , Mohamed Afshar , Hugues Pellerin , Kevin Bailly , Mohamed Chetouani , Laurence Robel , Bernard Golse , Rima Nabbout , Mariana Guergova-Kuras , David Cohen

Differential Expression of Interferon-Alpha Protein Provides Clues to Tissue Specificity Across Type I Interferonopathies.

Journal of clinical immunology

Avec: Lorenzo Lodi , Isabelle Melki , Vincent Bondet , Luis Seabra , Gillian I Rice , Edwin Carter , Alice Lepelley , Maria José Martin-Niclós , Buthaina Al Adba , Brigitte Bader-Meunier , Magalie Barth , Thomas Blauwblomme , Christine Bodemer , Odile Boespflug-Tanguy , Russel C Dale , Camille Ducrocq , Fabienne Dulieu , Cécile Dumaine , Pierre Ellul , Alice Hadchouel , Véronique Hentgen , Miguel Hié , Marie Hully , Eric Jeziorski , Romain Lévy , Fanny Mochel , Simona Orcesi , Sandrine Passemard , Marie Pouletty , Pierre Quartier , Florence Renaldo , Rainer Seidl , Jay Shetty , Bénédicte Neven , Stéphane Blanche , Darragh Duffy , Yanick J Crow , Marie-Louise Frémond

Cerebral blood flow and acute episodes of Leigh syndrome in neurometabolic disorders.

Developmental medicine and child neurology

Avec: Klervie Loiselet , Benedetta Ruzzenente , Charles-Joris Roux , Giulia Barcia , Alessandra Pennisi , Agnès Rötig , Arnold Munnich , Nathalie Boddaert , Auteur inconnu

Palliative Care in SMA Type 1: A Prospective Multicenter French Study Based on Parents' Reports.

Frontiers in pediatrics

Avec: Marie Hully , Christine Barnerias , Delphine Chabalier , Sophie Le Guen , Virginie Germa , Elodie Deladriere , Catherine Vanhulle , Jean-Marie Cuisset , Brigitte Chabrol , Claude Cances , Carole Vuillerot , Caroline Espil , Michele Mayer , Marie-Christine Nougues , Pascal Sabouraud , Jeremie Lefranc , Vincent Laugel , Francois Rivier , Ulrike Walther Louvier , Julien Durigneux , Sylvia Napuri , Catherine Sarret , Michel Renouil , Alice Masurel , Marcel-Louis Viallard ,

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

Human mutation

Avec: Giulia Barcia , Marlène Rio , Zahra Assouline , Coralie Zangarelli , Naig Gueguen , Valerie D Dumas , Pascale Marcorelles , Manuel Schiff , Abdelhamid Slama , Magalie Barth , Marie Hully , Pascale de Lonlay , Arnold Munnich , Jean-Paul Bonnefont , Julie Steffann , Vincent Procaccio , Nathalie Boddaert , Agnès Rötig , Metodi D Metodiev , Benedetta Ruzzenente

A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management.

Neurology

Avec: Emmanuelle Lagrue , Céline Dogan , Marie De Antonio , Frédérique Audic , Nathalie Bach , Christine Barnerias , Rémi Bellance , Claude Cances , Brigitte Chabrol , Jean-Marie Cuisset , Julien Durigneux , Caroline Espil , Mélanie Fradin , Delphine Héron , Arnaud Isapof , Agnès Jacquin-Piques , Hubert Journel , Cécile Laroche-Raynaud , Vincent Laugel , Armelle Magot , Véronique Manel , Michèle Mayer , Yann Péréon , Julie Perrier-Boeswillald , Sylviane Peudenier , Susana Quijano-Roy , Sylvie Ragot-Mandry , Christian Richelme , François Rivier , Pascal Sabouraud , Catherine Sarret , Hervé Testard , Catherine Vanhulle , Ulrike Walther-Louvier , Romain Gherardi , Dalil Hamroun , Guillaume Bassez

Diagnosis and Management of Carpal Tunnel Syndrome in Children with Mucopolysaccharidosis: A 10 Year Experience.

Diagnostics (Basel, Switzerland)

Avec: Ivana Dabaj , Cyril Gitiaux , Daniela Avila-Smirnow , Jacques Ropers , Arielle Salon , Stéphanie Pannier , Abdellah Tebani , Vassili Valayannopoulos , Susana Quijano-Roy

Multidisciplinary consensus recommendations from a European network for the diagnosis and practical management of patients with incontinentia pigmenti.

Journal of the European Academy of Dermatology and Venereology : JEADV

Avec: C Bodemer , A Diociaiuti , S Hadj-Rabia , M P Robert , I Desguerre , M-C Manière , M de la Dure-Molla , P De Liso , M Federici , A Galeotti , F Fusco , S Fraitag , C Demily , C Taieb , M Valeria Ursini , M El Hachem , J Steffann

The clinical, histologic, and genotypic spectrum of

Neurology

Avec: Rocio N Villar-Quiles , Maja von der Hagen , Corinne Métay , Victoria Gonzalez , Sandra Donkervoort , Enrico Bertini , Claudia Castiglioni , Denys Chaigne , Jaume Colomer , Maria Luz Cuadrado , Marianne de Visser , Bruno Eymard , Nathalie Goemans , Angela Kaindl , Emmanuelle Lagrue , Jürg Lütschg , Edoardo Malfatti , Michèle Mayer , Luciano Merlini , David Orlikowski , Ulrike Reuner , Mustafa A Salih , Beate Schlotter-Weigel , Mechthild Stoetter , Volker Straub , Haluk Topaloglu , J Andoni Urtizberea , Anneke van der Kooi , Ekkehard Wilichowski , Norma B Romero , Michel Fardeau , Carsten G Bönnemann , Brigitte Estournet , Pascale Richard , Susana Quijano-Roy , Ulrike Schara , Ana Ferreiro

Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study.

Orphanet journal of rare diseases

Avec: Frédérique Audic , Marta Gomez Garcia de la Banda , Delphine Bernoux , Paola Ramirez-Garcia , Julien Durigneux , Christine Barnerias , Arnaud Isapof , Jean-Marie Cuisset , Claude Cances , Christian Richelme , Carole Vuillerot , Vincent Laugel , Juliette Ropars , Cécilia Altuzarra , Caroline Espil-Taris , Ulrike Walther-Louvier , Pascal Sabouraud , Mondher Chouchane , Catherine Vanhulle , Valérie Trommsdorff , Anne Pervillé , Hervé Testard , Emmanuelle Lagrue , Catherine Sarret , Anne-Laude Avice , Pierre Beze-Beyrie , Vanessa Pauly , Susana Quijano-Roy , Brigitte Chabrol ,

SYNGAP1-DEE: A visual sensitive epilepsy.

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology

Avec: Tommaso Lo Barco , Anna Kaminska , Roberta Solazzi , Claude Cancés , Giulia Barcia , Nicole Chemaly , Elena Fontana , Laura Canafoglia , Caroline Hachon Le Camus , Emma Losito , Laurent Villard , Monika Eisermann , Bernardo Dalla Bernardina , Nathalie Villeneuve , Rima Nabbout

A multicenter cross-sectional French study of the impact of COVID-19 on neuromuscular diseases.

Orphanet journal of rare diseases

Avec: Lucie Isoline Pisella , Sara Fernandes , Guilhem Solé , Tanya Stojkovic , Céline Tard , Jean-Baptiste Chanson , Françoise Bouhour , Emmanuelle Salort-Campana , Guillemette Beaudonnet , Louise Debergé , Fanny Duval , Aude-Marie Grapperon , Marion Masingue , Aleksandra Nadaj-Pakleza , Yann Péréon , Frédérique Audic , Anthony Behin , Diane Friedman , Armelle Magot , Jean-Baptiste Noury , Sarah Souvannanorath , Karim Wahbi , Jean-Christophe Antoine , Kévin Bigaut , Jean-Philippe Camdessanché , Pascal Cintas , Rabab Debs , Caroline Espil-Taris , Laurent Kremer , Thierry Kuntzer , Pascal Laforêt , Vincent Laugel , Martial Mallaret , Maud Michaud , Sylvain Nollet , Juliette Svahn , Savine Vicart , Rocio Nur Villar-Quiles , David Adams , Sandrine Segovia-Kueny , Géraldine Merret , Elhadi Hammouda , Annamaria Molon , Shahram Attarian

Skeletal Ryanodine Receptors Are Involved in Impaired Myogenic Differentiation in Duchenne Muscular Dystrophy Patients.

International journal of molecular sciences

Avec: Pierre Meyer , Cécile Notarnicola , Albano C Meli , Stefan Matecki , Gérald Hugon , Jérémy Salvador , Mirna Khalil , Léonard Féasson , Claude Cances , Jérôme Cottalorda , Jean-Marie Cuisset , Pascal Sabouraud , Alain Lacampagne , Hugues Chevassus , François Rivier , Gilles Carnac

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

FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation.

Neurology. Genetics

Avec: Sebastian Montealegre , Elise Lebigot , Hugo Debruge , Norma Romero , Bénédicte Héron , Pauline Gaignard , Antoine Legendre , Apolline Imbard , Stéphanie Gobin , Emmanuelle Lacène , Patrick Nusbaum , Arnaud Hubas , Aude Servais , Pascal Laforêt , Peter van Endert , François Jérome Authier , Cyril Gitiaux , Pascale de Lonlay

Neuroinflammatory Disease following Severe Acute Respiratory Syndrome Coronavirus 2 Infection in Children.

The Journal of pediatrics

Avec: Melodie Aubart , Charles-Joris Roux , Chloé Durrleman , Clarisse Gins , Marie Hully , Manoelle Kossorotoff , Cyril Gitiaux , Raphaël Levy , Florence Moulin , Agathe Debray , Zahra Belhadjer , Emilie Georget , Temi Kom , Philippe Blanc , Samer Wehbi , Mustapha Mazeghrane , Jeremie Tencer , Vincent Gajdos , Sebastien Rouget , Loic De Pontual , Romain Basmaci , Karima Yacouben , Francois Angoulvant , Marianne Leruez-Ville , Delphine Sterlin , Flore Rozenberg , Matthieu P Robert , Shen-Ying Zhang , Nathalie Boddaert ,

A non-coding variant in the Kozak sequence of RARS2 strongly decreases protein levels and causes pontocerebellar hypoplasia.

BMC medical genomics

Avec: Romain Nicolle , Nami Altin , Karine Siquier-Pernet , Sherlina Salignac , Pierre Blanc , Arnold Munnich , Christine Bole-Feysot , Valérie Malan , Barthélémy Caron , Patrick Nitschké , Nathalie Boddaert , Marlène Rio , Antonio Rausell , Vincent Cantagrel

Natural history of GM1 gangliosidosis-Retrospective cohort study of 61 French patients from 1998 to 2019.

Journal of inherited metabolic disease

Avec: Domitille Laur , Samia Pichard , Soumeya Bekri , Catherine Caillaud , Roseline Froissart , Thierry Levade , Agathe Roubertie , Bénédicte Héron , Stéphane Auvin

Correlations between clinical motor scores and CMAP in patients with type 2 spinal muscular amyotrophy treated with nusinersen.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie

Avec: M Richard , R Barrois , I Desguerre , E Deladrière , V Leloup-Germa , C Barnerias , C Gitiaux

Neurological Outcomes and Quality of Life in Children After Extracorporeal Membrane Oxygenation.

Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies

Avec: Alizée Michel , Meryl Vedrenne-Cloquet , Manoëlle Kossorotoff , Michaël Thy , Raphaël Levy , Marie Pouletty , Charles De Marcellus , Marion Grimaud , Florence Moulin , Marie Hully , Hina Simonnet , Sylvain Renolleau , Mehdi Oualha , Judith Chareyre

Réseau de co-auteurs

Nathalie Boddaert 22 collaborations

Christine Barnerias 22 collaborations

Susana Quijano-Roy 17 collaborations

Rima Nabbout 16 collaborations

Cyril Gitiaux 16 collaborations

Giulia Barcia 14 collaborations

Marie Hully 12 collaborations

Arnold Munnich 11 collaborations

I Desguerre 11 collaborations

Brigitte Chabrol 10 collaborations

Charles-Joris Roux 10 collaborations

Mélodie Aubart 9 collaborations

Nicole Chemaly 9 collaborations

Arnaud Isapof 9 collaborations

Claude Cances 9 collaborations

Vincent Laugel 9 collaborations

Manuel Schiff 8 collaborations

Agnès Rötig 8 collaborations

Anna Kaminska 8 collaborations

None None 8 collaborations

Julien Durigneux 7 collaborations

Pascal Sabouraud 7 collaborations

Ulrike Walther-Louvier 7 collaborations

Frédérique Audic 7 collaborations

Manoelle Kossorotoff 6 collaborations

Catherine Sarret 6 collaborations

Catherine Vanhulle 6 collaborations

Ivana Dabaj 6 collaborations

Zahra Assouline 5 collaborations

Brigitte Fauroux 5 collaborations

Janbernd Kirschner 5 collaborations

Eugenio Mercuri 5 collaborations

Francesco Muntoni 5 collaborations

Laurent Servais 5 collaborations

Catherine Caillaud 5 collaborations

Sandra Mercier 5 collaborations

Jean-Marie Cuisset 5 collaborations

Emmanuelle Lagrue 5 collaborations

Chloé Durrleman 5 collaborations

Pascale de Lonlay 5 collaborations

Caroline Espil-Taris 5 collaborations

Sonia Khirani 4 collaborations

Alessandra Pennisi 4 collaborations

Jean-Paul Bonnefont 4 collaborations

Kayoko Saito 4 collaborations

Thierry Billette de Villemeur 4 collaborations

Sihem Benaboud 4 collaborations

Déborah Hirt 4 collaborations

Lisa Ouss 4 collaborations

Samia Pichard 4 collaborations

Yann Péréon 4 collaborations

Melodie Aubart 4 collaborations

Monika Eisermann 4 collaborations

Thomas Blauwblomme 4 collaborations

Emma Losito 4 collaborations

Julie Steffann 4 collaborations

Christine Bodemer 4 collaborations

Juliette Ropars 4 collaborations

Karim Wahbi 4 collaborations

Rabah Ben Yaou 4 collaborations

Pascal Laforêt 4 collaborations

Tanya Stojkovic 4 collaborations

Michèle Mayer 4 collaborations

Bruno Eymard 4 collaborations

Gillian I Rice 4 collaborations

Jean Bergounioux 4 collaborations

Benedetta Ruzzenente 4 collaborations

Rémi Barrois 4 collaborations

Marlène Rio 4 collaborations

C Barnerias 4 collaborations

C Gitiaux 4 collaborations

Christian Richelme 4 collaborations

Hervé Testard 4 collaborations

Raphaël Levy 4 collaborations

Richard S Finkel 3 collaborations

Darryl C De Vivo 3 collaborations

Manon Tauzin 3 collaborations

Jean-Marc Tréluyer 3 collaborations

Ines Gana 3 collaborations

Yi Zheng 3 collaborations

Naim Bouazza 3 collaborations

Camille Chenevier-Gobeaux 3 collaborations

Cécile Freihuber 3 collaborations

Sandra Donkervoort 3 collaborations

Carsten G Bönnemann 3 collaborations

Reza Maroofian 3 collaborations

Stéphane Auvin 3 collaborations

Edoardo Malfatti 3 collaborations

Volodia Dangouloff-Ros 3 collaborations

Romain Lévy 3 collaborations

Flore Rozenberg 3 collaborations

Jacinta Bustamante 3 collaborations

Delphine Chabalier 3 collaborations

Sylviane Peudenier 3 collaborations

Agathe Roubertie 3 collaborations

Nadia Bahi-Buisson 3 collaborations

Pascal Cintas 3 collaborations

Véronique Manel 3 collaborations

Mélanie Fradin 3 collaborations

Klaus Dieterich 3 collaborations

Florence Petit 3 collaborations

Eric Bieth 3 collaborations

Caroline Stalens 3 collaborations

France Leturcq 3 collaborations

Armelle Magot 3 collaborations

Alice Goldenberg 3 collaborations

Yanick J Crow 3 collaborations

Luis Seabra 3 collaborations

Crystal M Proud 3 collaborations

Claudia Castiglioni 3 collaborations

Florence Moulin 3 collaborations

Marianne Leruez-Ville 3 collaborations

Odile Boespflug-Tanguy 3 collaborations

Helge Amthor 3 collaborations

François Rivier 3 collaborations

Clarisse Gins 3 collaborations

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Caroline Espil 3 collaborations

Brigitte Bader-Meunier 3 collaborations

Bénédicte Neven 3 collaborations

Marie-Christine Nougues 3 collaborations

R Barrois 3 collaborations

E Deladrière 3 collaborations

V Leloup-Germa 3 collaborations

Magalie Barth 3 collaborations

Anne Pervillé 3 collaborations

Valérie Trommsdorff 3 collaborations

Mondher Chouchane 3 collaborations

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Alessandro Amaddeo 2 collaborations

Norma Romero 2 collaborations

Claude Besmond 2 collaborations

John W Day 2 collaborations

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Radia Aboura 2 collaborations

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Maha S Zaki 2 collaborations

Aline Cano 2 collaborations

Stanislas Lyonnet 2 collaborations

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Y Pereon 2 collaborations

T Stojkovic 2 collaborations

K Wahbi 2 collaborations

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Ulrike Schara 2 collaborations

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M Hully 2 collaborations

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David Orlikowski 2 collaborations

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B Tervil 2 collaborations

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Laurence Faivre 2 collaborations

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Karine Mention 2 collaborations

Marta Gomez-Garcia de la Banda 2 collaborations

Cécilia Altuzarra 2 collaborations

Delphine Héron 2 collaborations

Haluk Topaloglu 2 collaborations

S Brochard 2 collaborations

Coralie Zangarelli 2 collaborations

Metodi D Metodiev 2 collaborations

Baptiste Periou 2 collaborations

Pierre Quartier 2 collaborations

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Mathilde Gaume 2 collaborations

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Meryl Vedrenne-Cloquet 2 collaborations

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V Malan 2 collaborations

N Bahi-Buisson 2 collaborations

Marie Pouletty 2 collaborations

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Farid Khan 1 collaboration

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Luisa Fuentealba Baldini 1 collaboration

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Ayala Borghini 1 collaboration

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Deepa S Rajan 1 collaboration

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Eric N Anderson 1 collaboration

Caroline Ward 1 collaboration

Youngha Lee 1 collaboration

Sangmoon Lee 1 collaboration

Yong Beom Shin 1 collaboration

Jong-Hee Chae 1 collaboration

Murim Choi 1 collaboration

Karine Siquier 1 collaboration

Elliot S Stolerman 1 collaboration

Sarah S Barnett 1 collaboration

Margot A Cousin 1 collaboration

Diana Castro 1 collaboration

Kimberly McDonald 1 collaboration

Brian Kirmse 1 collaboration

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A Micheil Innes 1 collaboration

Danielle Lynch 1 collaboration

Patrick Frosk 1 collaboration

Abigail Collins 1 collaboration

Melissa Gibbons 1 collaboration

Michele Yang 1 collaboration

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Kaja K Selmer 1 collaboration

Roser Urreizti 1 collaboration

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Edgard Verdura 1 collaboration

Hannah R McCurry 1 collaboration

John E Landers 1 collaboration

Sameer Agnihotri 1 collaboration

E Corina Andriescu 1 collaboration

Shade B Moody 1 collaboration

Chanika Phornphutkul 1 collaboration

Maria J Guillen Sacoto 1 collaboration

Amber Begtrup 1 collaboration

Henry Houlden 1 collaboration

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Tim M Strom 1 collaboration

Steffen Leiz 1 collaboration

Kali Juliette 1 collaboration

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Philippe Roth 1 collaboration

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Camille Debord 1 collaboration

Manon Denis 1 collaboration

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Karine Poirier 1 collaboration

Laurence Hubert 1 collaboration

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Audrey Fontaine 1 collaboration

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David Grevent 1 collaboration

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Lauren P Morgenroth 1 collaboration

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Christian Werner 1 collaboration

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Axel Cederholm 1 collaboration

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Quentin Philippot 1 collaboration

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Mathilde Puel 1 collaboration

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Hailun Li 1 collaboration

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Marie Roelens 1 collaboration

Liwei Gao 1 collaboration

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Laurent Abel 1 collaboration

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Qian Zhang 1 collaboration

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