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Giulia Barcia

necker-enfants malades hospital

32H-index
156Paper Count
3.4KCitation Count
Published Papers 76
Publication Date
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COXFA4L2 upregulation preserves residual cytochrome c oxidase activity in COXFA4-related Leigh-like encephalopathy
errNature Communications
IF15.7
err2026-05-30
err0
errOAAI
errMicol Falabella; Sandra Lopez Calcerrada; Jana Aref; Jiaze Gao; William L. Macken; Chiara Pizzamiglio; Renata Kabiljo; Anna Lucia Francavilla; Pauline Gaignard; Antoine Pouzet; Jonathan Levy; Giulia Barcia; Jamie K. Leighton; Efstathia Chronopoulou; Germaine Pierre; Riza Köksal Özgül; Ali Dursun; Rebecca Halligan; Helen Mundy; Javeria Raza Alvi; Tipu Sultan; William James Craigen; Lisa Emrick; Jill A. Rosenfeld; Gehad Elmakkawy; JiHye Kim; Joseph J. Gleeson; Aboulfazl Rad; Gabriela Oprea; Maqbool Hussain; Khalil Ur Rehman; Sadia Riaz; Robert W. Taylor; Vincent Procaccio; Maha S. Zaki; Erika Fernandez-Vizarra; Ciro Leonardo Pierri; Michael G. Hanna; Henry Houlden; Reza Maroofian; Cristina Ugalde; Jan-Willem Taanman; Robert D. S. Pitceathly
errShare
errSave
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
errNature Genetics
IF29
err2026-04-08
err0
errOAAI
errRocio Rius; Alexander J. M. Blakes; Yuyang Chen; Joachim De Jonghe; François Lecoquierre; Ruebena Dawes; Benjamin Cogne; Hyung Chul Kim; Javeria R. Alvi; Florence Amblard; Morad Ansari; Annabelle Arlt; Christina Austin-Tse; Sarah Baer; Meena Balasubramanian; Elsa V. Balton; Giulia Barcia; Ana Beleza-Meireles; Jonathan A. Bernstein; Jasmin Beygo; Pierre Blanc; Nuria C. Bramswig; Frederik Braun; Daniel Buchzik; Daniel G. Calame; Jamie Campbell; Charles Coutton; Chloe A. Cunningham; Nitsuh Dargie; Christel Depienne; Katrina M. Dipple; Anne Dieux; Abhijit Dixit; Lauren Dreyer; Haowei Du; Salima El Chehadeh; Michael Field; Lisa J. Ewans; Vanessa Geiger; Richard A. Gibbs; Ian Glass; Olivier Grunewald; Paul Gueguen; Tobias B. Haack; Hamza Hadj Abdallah; Radu Harbuz; Ingo Helbig; Judit Horvath; Alexander Hustinx; Bertrand Isidor; Marie-Line Jacquemont; Fraser Jamie; Médéric Jeanne; Riley Kessler; Hannah Klinkhammer; G. Christoph Korenke; Urania Kotzaeridou; Peter Krawitz; Steven Laurie; Richard J. Leventer; Rebecca J. Levy; James R. Lupski; Pierre Marijon; Kaitlin E. McGinnis; Rodrigo Mendez; Olfa Messaoud; Caroline Nava; Mevyn Nizard; Anne O’Donnell-Luria; Melanie C. O’Leary; Simone Olivieri; Amitav Parida; Davut Pehlivan; Anna Jenne Prentice; Jennifer E. Posey; Chloe M. Reuter; Véronique Satre; Caroline Schluth-Bolard; Thomas Smol; Tipu Sultan; John Taylor; Christel Thauvin-Robinetvin; Julien Thevenon; Eloise Uebergang; Sandra Ueberberg; Catherine Vincent-Delorme; Evangeline Wassmer; Emma Westwood; Matthew T. Wheeler; Elif Yilmaz Gulec; Adeline Vanderver; Arastoo Vossough; Stephan J. Sanders; Siddharth Banka; Gregory M. Findlay; Daniel G. MacArthur; Cas Simons; Nicola Whiffin
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errSave
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies
errNature Genetics
IF29
err2026-03-30
err0
errOAAI
errElsa Leitão; Amandine Santini; Benjamin Cogne; Miriam Essid; Maria Athanasiadou; Christy W. LaFlamme; Pierre Marijon; Virginie Bernard; Kevin Jousselin; Nicolas Chatron; Giulia Barcia; Boris Keren; Cyril Mignot; Perrine Charles; Thomas Besnard; Robin Paluch; Jean-Madeleine de Sainte Agathe; Edith P. Almanza Fuerte; Soham Sengupta; Mathieu Milh; Francis Ramond; Talia Allan; Isabelle An; Camila Araujo; Stéphanie Arpin; Christina Austin-Tse; Stéphane Auvin; Sarah Baer; Nadia Bahi-Buisson; Mads Bak; Magalie Barth; Stéphanie Baulac; Nathalie Bednarek-Weirauch; Matthias Begemann; Mark F. Bennett; Uriel Bensabath; Stéphane Bézieau; Rakia Bhouri; Margaux Biehler; Trine Bjørg Hammer; Julie Bogoin; Emilie Bonanno; Simon Boussion; Céline Bris; Adelaide Brosseau-Beauvir; Ange-Line Bruel; Audrey Briand-Suleau; Julien Buratti; Tristan Celse; Pascal Chambon; Nicole Chemaly; Bertrand Chesneau; Estelle Colin; Maxime Colmard; Cindy Colson; Solène Conrad; Thomas Courtin; Isabelle Creveaux; Anne-Charlotte Cullier; Louis T. Dang; Anne de Saint Martin; Caroline de Vanssay de Blavous Legendre; Bénédicte Demeer; Anne-Sophie Denommé-Pichon; Philine Diekhoff; Stephanie DiTroia; Martine Doco-Fenzy; Christèle Dubourg; Charlotte Dubucs; Stéphanie Ducreux; Louis Dufour; Romain Duquet; Benjamin Durand; Salima El Chehadeh; Miriam Elbracht; Laurence Faivre; Marie Faoucher; Anne Faudet; Sylvie Forlani; Mélanie Fradin; Pauline Gaignard; Benjamin Ganne; Aurore Garde; Justine Géraud; Deepak Gill; Alice Goldenberg; David Grabli; Coraline Grisel; Sophie Gueden; Paul Gueguen; Anne-Marie Guerrot; Agnès Guichet; Tobias B. Haack; Nina Härting; Martin Georg Häusler; Solveig Heide; Theresia Herget; Bénédicte Héron; Delphine Héron; Johanna Herwig; Mathilde Heulin; Tess Holling; Clara Houdayer; Bertrand Isidor; Aurélia Jacquette; Louis Januel; Nolwenn Jean-Marçais; Frank J. Kaiser; Sabine Kaya; Chontelle King; Marina Konyukh; Florian Kraft; Jeremias Krause; Rémi Kirstetter; Alma Kuechler; Ingo Kurth; Kerstin Kutsche; Audrey Labalme; Jean-Serene Laloy; Vincent Laugel; Floriane Le Bricquir; Anne-Sophie Lèbre; Marine Lebrun; Eric Leguern; Jonathan Levy; Nico Lieffering; Stanislas Lyonnet; Kevin Lüthy; Sian M. W. Macdonald; Lamisse Mansour-Hendili; Julien Maraval; Iris Marquardt; Carolin Mattausch; Sandra Mercier; Olfa Messaoud; Godelieve Morel; Jérémie Mortreux; Arnold Munnich; Rima Nabbout; Sophie Nambot; Vincent Navarro; Ashana Neale; Laetitia Nguyen; Mathilde Nizon; Frédérique Nowak; Melanie C. O’Leary; Sylvie Odent; Naomi Meave Ojeda; Valérie Olin; Simone Olivieri; Katrin Õunap; Lynn S. Pais; Eleni Panagiotakaki; Olivier Patat; Laurence Perrin-Sabourin; Florence Petit; Christophe Philippe; Amélie Piton; Marc Planes; Céline Poirsier; Antoine Pouzet; Clément Prouteau; Sylvia Quéméner-Redon; Mathilde Renaud; Anne-Claire Richard; Marlène Rio; Clotilde Rivier; Florence Robin-Renaldo; Paul Rollier; Massimiliano Rossi; Agathe Roubertie; Valentin Ruault; Maïlys Rupin-Mas; Pascale Saugier-Veber; Aline Saunier; Russell Saneto; Elisabeth Sarrazin; Catherine Sarret; Elise Schaefer; Caroline Schluth-Bolard; Amy Schneider; Isabell Schumann; Vladimir B. Seplyarskiy; Stephanie Spranger; Thomas Smol; Marc Sturm; Shamil R. Sunyaev; Brian Sperelakis-Beedham; Sarah L. Stenton; Friedrich Stock; Mylène Tharreau; Deniz Torun; Joseph Toulouse; Harshini Thiyagarajah; Stéphanie Valence; Sophie Valleix; Julien Van-Gils; Laurent Villard; Dorothée Ville; Nathalie Villeneuve; Antonio Vitobello; Aurélie Waernessyckle; Jan Wagner; Yvonne Weber; Dagmar Wieczorek; Tom Witkowski; Manya Yadavilli; Tony Yammine; Khaoula Zaafrane-Khachnaoui; Maha S. Zaki; Alban Ziegler; Nuria C. Bramswig; Alban Lermine; Gael Nicolas; Joseph G. Gleeson; Lynette G. Sadleir; Michael S. Hildebrand; Ingrid E. Scheffer; Nicola Whiffin; Anne O’Donnell-Luria; Heather C. Mefford; Pierre Blanc; Julien Thevenon; Camille Charbonnier; Clément Charenton; Christel Depienne; Gaetan Lesca; Caroline Nava
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errSave
Neurological manifestations and genotype–phenotype correlations in NDUFAF6-associated mitochondrial disease
errBrain Communications
IF4.5
err2026-03-18
err0
errOAAI
errAlessandra Torraco; Charlotte L Alston; Giulia Barcia; Daniela Verrigni; Teresa Rizza; Michela Di Nottia; Anastasia Altobelli; Diego Martinelli; Daria Diodato; Stephanie Efthymiou; Melis Kose; Yamna Kriouile; Albert Z Lim; Silvia Morlino; Barbara Siri; Nebal Waill Saadi; Antonio Novelli; Henry Houlden; Carlo Dionisi-Vici; Robert McFarland; Agnès Rötig; Enrico Bertini; Robert W Taylor; Rosalba Carrozzo
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errSave
Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study
errGenome Medicine
IF11.2
err2025-10-04
err0
errOAAI
errSalima El Chehadeh; Solveig Heide; Chloé Quélin; Marlène Rio; Henri Margot; David Geneviève; Bertrand Isidor; Alice Goldenberg; Caroline Guégan; Gaëtan Lesca; Marjolaine Willems; Clothilde Ormières; Roseline Caumes; Tiffany Busa; Dominique Bonneau; Anne-Marie Guerrot; Isabelle Marey; Gabriella Vera; Pauline Marzin; Anaïs Philippe; Aurore Garde; Christine Coubes; Marie Vincent; Vincent Michaud; Cyril Mignot; Perrine Charles; Sabine Sigaudy; Patrick Edery; Didier Lacombe; Anne Boland; Frédérique Nowak; Marion Bouctot; Marie-Laure Humbert-Asensio; Alban Simon; Kirsley Chennen; Niki Sabour; Christelle Delmas; Gaël Nicolas; Pascale Saugier-Veber; François Lecoquierre; Kévin Cassinari; Boris Keren; Thomas Courtin; Jean-Madeleine De Sainte Agathe; Valérie Malan; Giulia Barcia; Frédéric Tran Mau-Them; Hana Safraou; Christophe Philippe; Julien Thévenon; Nicolas Chatron; Louis Januel; Amélie Piton; Virginie Haushalter; Bénédicte Gérard; Catherine Lejeune; Laurence Faivre; Damien Sanlaville; Delphine Héron; Sylvie Odent; Patrick Nitschké; Caroline Schluth-Bolard; Stanislas Lyonnet; Jean-François Deleuze; Christine Binquet; Hélène Dollfus
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errSave
Assessing Real World Efficacy, Safety, and 18-Month Retention Rates of Cannabidiol in Individuals With Drug Resistant Epilepsies
errEuropean Journal of Neurology
IF3.9
err2025-09-18
err0
PREAI
errNicole Chemaly; Mathieu Kuchenbuch; Emma Losito; Anna Kaminska; Delphine Coste-Zeitoun; Giulia Barcia; Isabelle Desguerre; Marie Hully; Rima Nabbout
errShare
errSave
Childhood POLG-related disorders: Focus on polyradiculoneuropathy
errMolecular Genetics and Metabolism
IF3.5
err2025-07-30
err0
PREAI
errClaire-Marine Bérat; Marie Hully; Agnès Rötig; Giulia Barcia; Zahra Assouline; Marie-Thérèse Abi-Warde; Christine Barnerias; Elise Payen; Marianne Jaroussie; Pauline Gaignard; Elise Lebigot; Agathe Roubertie; Nathalie Boddaert; Charles-Joris Roux; Pascale de Lonlay; Isabelle Desguerre; Arnold Munnich; Manuel Schiff; Cyril Gitiaux
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errSave
The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series
errAnnals of Neurology
IF7.7
err2025-07-01
err0
errOAAI
errSarah M. Brooker MD, PhD; Maria Novelli MD; Robert Coukos PhD; Neha Prakash MBBS; Walaa A. Kamel MD; Marta Amengual-Gual MD; Mathieu Anheim MD, PhD; Giulia Barcia MD, PhD; Tanya Bardakjian MS; Franciska Baur MD; Steffen Berweck MD; Bigna K. Bölsterli MD; Melanie Brugger MD; Thomas Cassini MD; Nicolas Chatron MD; Brian Corner MS; Hormos Salimi Dafsari MD; Jean-Madeleine de Sainte Agathe MD; Colin A. Ellis MD; Kimberly M. Ezell APRN, FNP; Cendrine Foucard MD; Steven J. Frucht MD; Maria C. Garcia MBBS; Deepak Gill MBBS, FRACP; Anne Guimier MD; Rizwan Hamid MD, PhD; Damià Heine-Suñer PhD; Peter Herkenrath MD; Marie Hully MD; Ioannis U. Isaias MD, PhD; Louis Januel MD; Chloe Laurencin MD; Taylor Laut MS; Alinoe Lavillaureix MD; Gaetan Lesca MD, PhD; Marion Lesieur-Sebellin MD; Luca Magistrelli MD, PhD; Cecilia Marelli MD, PhD; Heather C. Mefford MD, PhD; Bryce A. Mendelsohn MD; Saadet Mercimek-Andrews MD, PhD; Claire Miller MD, PhD; Shekeeb S. Mohammad MBBS, PhD, FRACP; Francesca Morgante MD, PhD; Sirisha Nandipati MD; Thomas Opladen MD; Mahesh Padmanaban MD; Micaela Pauni MD; Gianni Pezzoli MD; Amelie Piton PhD; Francis Ramond MD, PhD; Giulietta M. Riboldi MD, PhD; Christelle Rougeot-Jung MD; Fernando Santos-Simarro MD, PhD; Ingrid E. Scheffer MBBS, PhD; Naoual Serari M2; Christine M. Stahl MD; Ann Stembridge Kung MS; Susana Tarongí Sanchez MD; Christel Thauvin-Robinet MD, PhD; Marianne Till MD; Christine Tranchant MD, PhD; Christopher Troedson MBBS, FRACP; Thomas F. Tropea DO, MPH; Olivier Vanakker MD, PhD; Patricia Vega MD; Maxi Leona Wiese MD; Udo Wieshmann MD, PhD, FRCP; Laura J. Williams MB BCh BAO, MD; Thomas Wirth MD; Michael Zech MD; Hans Zempel MD, PhD; Emmanuel Roze MD, PhD; Vincenzo Leuzzi MD; Serena Galosi MD, PhD; Victor S. C. Fung PhD, FRACP; Gemma Carvill PhD; Dimitri Krainc MD, PhD; Elizabeth Gerard MD; Niccolò E. Mencacci MD, PhD
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errSave
Bi-allelic variants in TM2D3 cause a severe syndromic neurodevelopmental disorder associated with endoplasmic reticulum and mitochondrial abnormalities
erramerican journal of human genetics
IF0
err2025-05-30
err0
PREAI
errClaudie Gabillard-Lefort; Caroline Silveira Martinez; Naïg Gueguen; Valérie Desquiret-Dumas; Méline Wery; Louis Legoff; Anne Guimier; Sophie Rondeau; Giulia Barcia; Christine Barnerias; Benjamin Cogne; Thomas Besnard; Elsa Lorino; Jessica Douglas; Olaf Bodamer; Annalisa Vetro; Renzo Guerrini; Simona Balestrini; Valerio Conti; Laura Siri; Arnaud Chevrollier; Céline Bris; Estelle Colin; Vincent Procaccio; Delphine Prunier-Mirebeau; Guy Lenaers; Salim Khiati; Mathilde Nizon; Olivier R. Baris
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errSave
Genome sequencing identifies RMND1 as a strong candidate gene for severe prenatal kidney failure mimicking renal tubular dysgenesis associated with hyporeninism
errPEDIATRIC NEPHROLOGY
IF2.6
err2025-05-14
err0
PREAI
errMarsili, Luisa; Mantecon, Matthieu; Arrondel, Christelle; Barcia, Giulia; Assouline, Zahra; Gribouval, Olivier; Wellesley, Diana; Harrison, Victoria; Marijon, Pierre; Colson, Cindy; Stichelbout, Morgane; Gubler, Marie-Claire; Antignac, Corinne; Rotig, Agnes; Heidet, Laurence
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errSave
Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies
errEPILEPSIA OPEN
IF2.9
err2025-05-10
err0
errOAAI
errGiulia Barcia; Nicole Chemaly; Stéphanie Gobin-Limballe; Emma Losito; Mélodie Aubart; Eugénie Sarda; Zahra Assouline; Pauline Plante-Bordeneuve; Marie Hully; Remi Barrois; Christine Barnerias; Doxa Sareidaki; Delphine Coste Zeitoun; Monika Eisermann; Cécile Fourrage; Sylvain Hanein; Marlène Rio; Nathalie Boddaert; Isabelle Desguerre; Anna Kaminska; Julie Steffann; Rima Nabbout
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errSave
ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2025-03-01
err0
errOAAI
errHoudayer, Clara; Rooney, Kathleen; van der Laan, Liselot; Bris, Celine; Alders, Marielle; Bahr, Angela; Barcia, Giulia; Battault, Clarisse; Begemann, Anais; Bonneau, Dominique; Bonnevalle, Antoine; Boughalem, Aicha; Bourges, Alice; Bournez, Marie; Bruel, Ange-Line; Buhas, Daniela; Carallis, Floriane; Cogne, Benjamin; Cormier-Daire, Valerie; Delanne, Julian; Demaret, Tanguy; Denomme-Pichon, Anne-Sophie; Desir, Julie; Dubourg, Christele; Fradin, Melanie; Genevieve, David; Goel, Himanshu; Goldenberg, Alice; Gripp, Karen W.; Guichet, Agnes; Guimier, Anne; Jacquinet, Adeline; Keren, Boris; Legoff, Louis; Levy, Michael A.; Mcconkey, Haley; Mendelsohn, Bryce A.; Mignot, Cyril; Milon, Vincent; Nizon, Mathilde; Oneda, Beatrice; Pasquier, Laurent; Patat, Olivier; Philippe, Christophe; Procaccio, Vincent; Procopio, Rebecca; Prouteau, Clement; Rambaud, Thomas; Rauch, Anita; Relator, Raissa; Rondeau, Sophie; Santen, Gijs W. E.; Schleit, Jennifer; Sorlin, Arthur; Steindl, Katharina; Tedder, Matt; Tessarech, Marine; Mau-Them, Frederic Tran; Trost, Detlef; van der Sluijs, Pleuntje J.; Vincent, Marie; Whalen, Sandra; Thauvin-Robinet, Christel; Isidor, Bertrand; Sadikovic, Bekim; Vitobello, Antonio; Colin, Estelle
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Heterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene, ATP9A, Alter Dendritic Spine Maturation and Cause Dominantly Inherited Nonsyndromic Intellectual Disability
errHUMAN MUTATION
IF3.7
err2025-01-01
err0
errOAAI
errCordovado, Amelie; Herenger, Yvan; Cormier, Coline; Lopez-Martin, Estrella; Stamberger, Hannah; Faivre, Laurence; Denomme-Pichon, Anne-Sophie; Vitobello, Antonio; Abdallah, Hamza Hadj; Barcia, Giulia; Courtin, Thomas; Martinez-Delgado, Beatriz; Bermejo-Sanchez, Eva; Barrero, Maria J.; Gasser, Brooklynn; Bezieau, Stephane; Kury, Sebastien; Weckhuysen, Sarah; Laumonnier, Frederic; Toutain, Annick; Vuillaume, Marie-Laure
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Relevance of muscle biopsies in the neonatal and early infantile period: a 52 years retrospective study in the gene-sequencing era
errACTA NEUROPATHOLOGICA COMMUNICATIONS
IF5.7
err2024-12-20
err0
errOAAI
errBui, Mai Thao; Fernandez-Eulate, Gorka; Evangelista, Teresinha; Lacene, Emmanuelle; Brochier, Guy; Labasse, Clemence; Madelaine, Angeline; Chanut, Anais; Beuvin, Maud; Borsato-Levy, Favienne; Biancalana, Valerie; Barcia, Giulia; De Lonlay, Pascale; Laporte, Jocelyn; Boehm, Johann; Romero, Norma Beatriz
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errSave
Transition from pediatric to adult care system in patients with complex epilepsies: Necker model for transition evaluated on 70 consecutive patients
errEPILEPSIA
IF6.6
err2024-11-11
err0
errOAAI
errNabbout, Rima; Molimard, Agathe; Scorrano, Giovanna; Aubart, Melodie; Breuillard, Delphine; Delaune, Morgane; Barcia, Giulia; Chemaly, Nicole; Barthez, Marie-Anne; Desguerre, Isabelle
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Uniparental IsoDisomy: a case study on a new mechanism of Friedreich ataxia
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2024-11-04
err1
PREAI
errSperelakis-Beedham, Brian; Gitiaux, Cyril; Rajaoba, Marine; Magen, Maryse; Derive, Nicolas; Chansard, Jerome; Agathe, Jean-Madeleine de Sainte; Maurin, Marie-Laure; Assouline, Zahra; Barnerias, Christine; Desguerre, Isabelle; Steffann, Julie; Barcia, Giulia
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Chloride deregulation and GABA depolarization in MTOR-related malformations of cortical development
errBRAIN
IF11.7
err2024-08-06
err2
errOAAI
errBakouh, Naziha; Castano-Martin, Reyes; Metais, Alice; Dan, Emanuela Loredana; Balducci, Estelle; Chhuon, Cerina; Lepicka, Joanna; Barcia, Giulia; Losito, Emma; Lourdel, Stephane; Planelles, Gabrielle; Muresan, Raul C.; Moca, Vasile Vlad; Kaminska, Anna; Bourgeois, Marie; Chemaly, Nicole; Rguez, Yasmine; Auvin, Stephane; Huberfeld, Gilles; Varlet, Pascale; Asnafi, Vahid; Guerrera, Ida Chiara; Kabashi, Edor; Nabbout, Rima; Ciura, Sorana; Blauwblomme, Thomas
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Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency
errNEUROLOGY-GENETICS
IF3.7
err2024-08-01
err2
errOAAI
errRotig, Agnes; Gaignard, Pauline; Barcia, Giulia; Assouline, Zahra; Berat, Claire-Marine; Barth, Magalie; Damaj, Lena; Laborde, Nolwenn; Abi-Warde, Marie-Therese; Chabrol, Brigitte; De Lonlay, Pascale; Desguerre, Isabelle; Goldenberg, Alice; Gonzales, Emmanuel; Jacquemin, Emmanuel; Amati-Bonneau, Patrizia; Bonneau, Dominique; Abadie, Veronique; Bonnemains, Chrystele; Broue, Pierre; De Saint-Martin, Anne; Philippe, Durand; Fouilhoux, Alain; Isidor, Bertrand; Jaroussie, Marianne; Jedraszak, Guillaume; Maurey, Helene; Mention, Karine; Odent, Sylvie S.; Pasquier, Laurent; Rougeot-Jung, Christelle; Gitiaux, Cyril; Roux, Charles-Joris; Boddaert, Nathalie; Munnich, Arnold; Schiff, Manuel
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Polyradiculoneuritis on MRI An Overlooked Feature of Biallelic POLG Gene Mutations in Infancy
errNEUROLOGY
IF8.5
err2024-06-11
err0
PREAI
errRoux, Charles-Joris; Dufeu-Berat, Claire-Marine; Hully, Marie; Rotig, Agnes; Schiff, Manuel; De Lonlay, Pascale; Aubart, Melodie; Alison, Marianne; Jaroussie, Marianne; Levy, Raphael; Dangouloff-Ros, Volodia; Barcia, Giulia; Desguerre, Isabelle; Munnich, Arnold; Gitiaux, Cyril; Boddaert, Nathalie
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Primary mitochondrial disorders and mimics: Insights from a large French cohort
errANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
IF3.9
err2024-05-04
err2
errOAAI
errRouzier, Cecile; Pion, Emmanuelle; Chaussenot, Annabelle; Bris, Celine; Ait-El-Mkadem Saadi, Samira; Desquiret-Dumas, Valerie; Gueguen, Naig; Fragaki, Konstantina; Amati-Bonneau, Patrizia; Barcia, Giulia; Gaignard, Pauline; Steffann, Julie; Pennisi, Alessandra; Bonnefont, Jean-Paul; Lebigot, Elise; Bannwarth, Sylvie; Francou, Bruno; Rucheton, Benoit; Sternberg, Damien; Martin-Negrier, Marie-Laure; Trimouille, Aurelien; Hardy, Gaelle; Allouche, Stephane; Acquaviva-Bourdain, Cecile; Pagan, Cecile; Lebre, Anne-Sophie; Reynier, Pascal; Cossee, Mireille; Attarian, Shahram; Paquis-Flucklinger, Veronique; Procaccio, Vincent
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Research Directions

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Co-authors
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