Giulia Barcia (Guilia Barcia)

ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 15

Top Topics

Intellectual Disability

Top Venues

European journal of human genetics : EJHG

Neurology. Genetics

Developmental medicine and child neurology

This page only lists publications with an associated author ORCID identifier.

Publications

Agnes Rotig, Pauline Gaignard, Giulia Barcia, Zahra Assouline, Claire-Marine Berat, Magalie Barth, Léna Damaj, Nolwenn Laborde, Marie-Thérèse Abi-Warde, Brigitte Chabrol, Pascale De Lonlay, Isabelle Desguerre, 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
Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency. Neurology. Genetics 10 (4) (2024)
Rocio Garcia-Uzquiano, Giulia Barcia, Emma Losito, Nicole Chemaly, Anna Kaminska, Isabelle Desguerre, Thomas Blauwblomme, Nathalie Boddaert, Rima Nabbout
Genetic testing, another important tool in presurgical evaluation of focal epilepsies in childhood. Epilepsia open 9 (4) (2024)
Rocio Garcia-Uzquiano, Giulia Barcia, Emma Losito, Nicole Chemaly, Anna Kaminska, Isabelle Desguerre, Thomas Blauwblomme, Nathalie Boddaert, Rima Nabbout
Genetic testing, another important tool in presurgical evaluation of focal epilepsies in childhood. Epilepsia open 9 (4) (2024)
Rocio Garcia-Uzquiano, Giulia Barcia, Emma Losito, Nicole Chemaly, Anna Kaminska, Isabelle Desguerre, Thomas Blauwblomme, Nathalie Boddaert, Rima Nabbout
Genetic testing, another important tool in presurgical evaluation of focal epilepsies in childhood. Epilepsia open (2024)
Rocio Garcia-Uzquiano, Giulia Barcia, Emma Losito, Nicole Chemaly, Anna Kaminska, Isabelle Desguerre, Thomas Blauwblomme, Nathalie Boddaert, Rima Nabbout
Genetic testing, another important tool in presurgical evaluation of focal epilepsies in childhood. Epilepsia open 9 (4) (2024)
Agnes Rotig, Pauline Gaignard, Giulia Barcia, Zahra Assouline, Claire-Marine Berat, Magalie Barth, Léna Damaj, Nolwenn Laborde, Marie-Thérèse Abi-Warde, Brigitte Chabrol, Pascale De Lonlay, Isabelle Desguerre, 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
Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency. Neurology. Genetics 10 (4) (2024)
Naziha Bakouh, Reyes Castaño-Martín, Alice Metais, Emanuela Loredana Dan, Estelle Balducci, Cerina Chhuon, Joanna Lepicka, Giulia Barcia, Emma Losito, Stéphane Lourdel, Gabrielle Planelles, Raul C Muresan, Vasile Vlad Moca, Anna Kaminska, Marie Bourgeois, Nicole Chemaly, Yasmine Rguez, Stėphane Auvin, Gilles Huberfeld, Pascale Varlet, Vahid Asnafi, Ida Chiara Guerrera, Edor Kabashi, Rima Nabbout, Sorana Ciura, Thomas Blauwblomme
Chloride deregulation and GABA depolarization in MTOR related malformations of cortical development. Brain : a journal of neurology (2024)
Frédéric Ebstein, Sébastien Küry, Victoria Most, Cory Scott Rosenfelt, Marie-Pier Scott-Boyer, Geeske M van Woerden, Thomas Besnard, Jonas Johannes Papendorf, Maja Studencka-Turski, Tianyun Wang, Tzung-Chien Hsieh, Richard Golnik, Dustin Baldridge, Cara Forster, Charlotte de Konink, Selina M W Teurlings, Virginie Vignard, Richard H van Jaarsveld, Lesley Ades, Benjamin Cogné, Cyril Mignot, Wallid Deb, Marjolijn C J Jongmans, F Sessions Cole, Marie-José H van den Boogaard, Jennifer A Wambach, Daniel J Wegner, Sandra Yang, Vickie Hannig, Jennifer Ann Brault, Neda Zadeh, Bruce Bennetts, Boris Keren, Anne-Claire Gélineau, Zöe Powis, Meghan C Towne, Kristine Bachman, Andrea Seeley, Anita E Beck, Jennifer Morrison, Rachel Westman, Kelly Averill, Theresa Brunet, Judith Haasters, Melissa T Carter, Matthew Osmond, Patricia G Wheeler, Francesca Forzano, Shehla Mohammed, Yannis Trakadis, Andrea Accogli, Rachel Harrison, Yiran Guo, Hakon H Hakonarson, Sophie Rondeau, Geneviève Baujat, Giulia Barcia, René Günther Feichtinger, Johannes Adalbert Mayr, Martin Preisel, Frederic Laumonnier, Tilmann Kallinich, Alexej Knaus, Bertrand Isidor, Peter M Krawitz, Linus Völker, Elke Hammer, Arnaud Droit, Evan E Eichler, Ype Elgersma, Peter W Hildebrand, Francois V Bolduc, Elke Krüger, Stephane Bezieau
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production. Science translational medicine 15 (698) (2023)
Maya Chopra, Richard C Caswell, Giulia Barcia, Sophie Rondeau, Laurence Jonard, Patrick Nitchké, Daniel Amram, Marc-Lionel Bellaiche, Veronique Abadie, Marine Parodi, Francoise Denoyelle, Andrew Hattersley, Christine Bole, Stanislas Lyonnet, Sandrine Marlin
Mild MDPL in a patient with a novel de novo missense variant in the Cys-B region of POLD1. European journal of human genetics : EJHG 30 (8) (2022)
Klervie Loiselet, Benedetta Ruzzenente, Charles-Joris Roux, Giulia Barcia, Alessandra Pennisi, Isabelle Desguerre, Agnes Rotig, Arnold Munnich, Nathalie Boddaert, null null
Cerebral blood flow and acute episodes of Leigh syndrome in neurometabolic disorders. Developmental medicine and child neurology 63 (6) (2021)
Carolina Alvarez, Sumaiya Iqbal, Kim Borredy, Jeanne Amiel, Christiane Zweier, Giulia Barcia, Cornelia Kraus, Heike Weyhreter, Alexander G Bassuk, Maya Chopra, Guido Rubboli, Rikke S Møller
PRICKLE2 revisited-further evidence implicating PRICKLE2 in neurodevelopmental disorders. European journal of human genetics : EJHG 29 (8) (2021)
Romain Duval, Gaël Nicolas, Alexandra Willemetz, Yoshiko Murakami, Mahmoud Mikdar, Cedric Vrignaud, Hisham Megahed, Jean-Pierre Cartron, Cecile Masson, Samer Wehbi, Bérengere Koehl, Marie Hully, Karine Siquier, Nicole Chemlay, Agnes Rotig, Stanislas Lyonnet, Yves Colin, Giulia Barcia, Vincent Cantagrel, Caroline Le Van Kim, Olivier Hermine, Taroh Kinoshita, Thierry Peyrard, Slim Azouzi
Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative blood phenotype and developmental disorders. Blood 137 (26) (2021)
Mathieu Kuchenbuch, Gianluca D'Onofrio, Nicole Chemaly, Giulia Barcia, Théo Teng, Rima Nabbout
Add-on cannabidiol significantly decreases seizures in 3 patients with SYNGAP1 developmental and epileptic encephalopathy. Epilepsia open 5 (3) (2020)
Giulia Barcia, Marlène Rio, Zahra Assouline, Coralie Zangarelli, Charles-Joris Roux, Pascale de Lonlay, Julie Steffann, Isabelle Desguerre, Arnold Munnich, Jean-Paul Bonnefont, Nathalie Boddaert, Agnes Rotig, Metodi D Metodiev, Benedetta Ruzzenente
Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival. European journal of human genetics : EJHG 29 (3) (2020)
Laura Routier, Florine Verny, Giulia Barcia, Nicole Chemaly, Isabelle Desguerre, Laurence Colleaux, Rima Nabbout
Exome sequencing findings in 27 patients with myoclonic-atonic epilepsy: Is there a major genetic factor? Clinical genetics 96 (3) (2019)