Works matching AU Barcia, Giulia

Results: 40
    1
    2

    Autism and Coeliac Disease.

    Published in:
    2008
    By:
    • Barcia, Giulia;
    • Posar, Annio;
    • Santucci, Margherita;
    • Parmeggiani, Antonia
    Publication type:
    Letter
    3

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

    Published in:
    Developmental Medicine & Child Neurology, 2021, v. 63, n. 6, p. 705, doi. 10.1111/dmcn.14814
    By:
    • Loiselet, Klervie;
    • Ruzzenente, Benedetta;
    • Roux, Charles‐Joris;
    • Barcia, Giulia;
    • Pennisi, Alessandra;
    • Desguerre, Isabelle;
    • Rötig, Agnès;
    • Munnich, Arnold;
    • Boddaert, Nathalie;
    • Levy, Raphaël;
    • Dangouloff‐Ros, Volodia;
    • Grévent, David;
    • De Lonlay, Pascale
    Publication type:
    Article
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    Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome.

    Published in:
    Epilepsia (Series 4), 2020, v. 61, n. 11, p. 2461, doi. 10.1111/epi.16679
    By:
    • Bar, Claire;
    • Kuchenbuch, Mathieu;
    • Barcia, Giulia;
    • Schneider, Amy;
    • Jennesson, Mélanie;
    • Le Guyader, Gwenaël;
    • Lesca, Gaetan;
    • Mignot, Cyril;
    • Montomoli, Martino;
    • Parrini, Elena;
    • Isnard, Hervé;
    • Rolland, Anne;
    • Keren, Boris;
    • Afenjar, Alexandra;
    • Dorison, Nathalie;
    • Sadleir, Lynette G.;
    • Breuillard, Delphine;
    • Levy, Raphael;
    • Rio, Marlène;
    • Dupont, Sophie
    Publication type:
    Article
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    Improving post-natal detection of mitochondrial DNA mutations.

    Published in:
    Expert Review of Molecular Diagnostics, 2020, v. 20, n. 10, p. 1003, doi. 10.1080/14737159.2020.1820326
    By:
    • Barcia, Giulia;
    • Assouline, Zahra;
    • Magen, Maryse;
    • Pennisi, Alessandra;
    • Rötig, Agnès;
    • Munnich, Arnold;
    • Bonnefont, Jean-Paul;
    • Steffann, Julie
    Publication type:
    Article
    9

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

    Published in:
    Nature Genetics, 2012, v. 44, n. 11, p. 1255, doi. 10.1038/ng.2441
    By:
    • Barcia, Giulia;
    • Fleming, Matthew R;
    • Deligniere, Aline;
    • Gazula, Valeswara-Rao;
    • Brown, Maile R;
    • Langouet, Maeva;
    • Chen, Haijun;
    • Kronengold, Jack;
    • Abhyankar, Avinash;
    • Cilio, Roberta;
    • Nitschke, Patrick;
    • Kaminska, Anna;
    • Boddaert, Nathalie;
    • Casanova, Jean-Laurent;
    • Desguerre, Isabelle;
    • Munnich, Arnold;
    • Dulac, Olivier;
    • Kaczmarek, Leonard K;
    • Colleaux, Laurence;
    • Nabbout, Rima
    Publication type:
    Article
    10
    11

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

    Published in:
    European Journal of Neurology, 2023, v. 30, n. 7, p. 2051, doi. 10.1111/ene.15821
    By:
    • Durrleman, Chloe;
    • Grevent, David;
    • Aubart, Melodie;
    • Kossorotoff, Manoelle;
    • Roux, Charles‐Joris;
    • Kaminska, Anna;
    • Rio, Marlene;
    • Barcia, Giulia;
    • Boddaert, Nathalie;
    • Munnich, Arnold;
    • Nabbout, Rima;
    • Desguerre, Isabelle
    Publication type:
    Article
    12

    Relevance of muscle biopsies in the neonatal and early infantile period: a 52 years retrospective study in the gene-sequencing era.

    Published in:
    Acta Neuropathologica Communications, 2024, v. 12, n. 1, p. 1, doi. 10.1186/s40478-024-01882-0
    By:
    • Bui, Mai Thao;
    • Fernández-Eulate, Gorka;
    • Evangelista, Teresinha;
    • Lacène, Emmanuelle;
    • Brochier, Guy;
    • Labasse, Clémence;
    • Madelaine, Angéline;
    • Chanut, Anaïs;
    • Beuvin, Maud;
    • Borsato-Levy, Favienne;
    • Biancalana, Valérie;
    • Barcia, Giulia;
    • De Lonlay, Pascale;
    • Laporte, Jocelyn;
    • Böhm, Johann;
    • Romero, Norma Beatriz
    Publication type:
    Article
    13

    Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder.

    Published in:
    Molecular Autism, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13229-019-0284-2
    By:
    • Munnich, Arnold;
    • Demily, Caroline;
    • Frugère, Lisa;
    • Duwime, Charlyne;
    • Malan, Valérie;
    • Barcia, Giulia;
    • Vidal, Céline;
    • Throo, Emeline;
    • Besmond, Claude;
    • Hubert, Laurence;
    • Roland-Manuel, Gilles;
    • Malen, Jean-Pierre;
    • Ferreri, Mélanie;
    • Hanein, Sylvain;
    • Thalabard, Jean-Christophe;
    • Boddaert, Nathalie;
    • Assouline, Moïse
    Publication type:
    Article
    14

    Utility of whole exome sequencing for the early diagnosis of pediatric-onset cerebellar atrophy associated with developmental delay in an inbred population.

    Published in:
    2016
    By:
    • Megahed, Hisham;
    • Nicouleau, Michaël;
    • Barcia, Giulia;
    • Medina-Cano, Daniel;
    • Siquier-Pernet, Karine;
    • Bole-Feysot, Christine;
    • Parisot, Mélanie;
    • Masson, Cécile;
    • Nitschké, Patrick;
    • Rio, Marlène;
    • Bahi-Buisson, Nadia;
    • Desguerre, Isabelle;
    • Munnich, Arnold;
    • Boddaert, Nathalie;
    • Colleaux, Laurence;
    • Cantagrel, Vincent
    Publication type:
    journal article
    15
    16

    SOX3 duplication: A genetic cause to investigate in fetuses with neural tube defects.

    Published in:
    2019
    By:
    • Hureaux, Marguerite;
    • Ben Miled, Selima;
    • Chatron, Nicolas;
    • Coussement, Aurelie;
    • Bessières, Bettina;
    • Egloff, Matthieu;
    • Mechler, Charlotte;
    • Stirnemann, Julien;
    • Tsatsaris, Vassilis;
    • Barcia, Giulia;
    • Turleau, Catherine;
    • Ville, Yves;
    • Encha‐Razavi, Ferechte;
    • Attie‐Bitach, Tania;
    • Malan, Valérie;
    • Encha-Razavi, Ferechte;
    • Attie-Bitach, Tania
    Publication type:
    journal article
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    Vingt ans de consultations de génétique clinique sur site dans les hôpitaux de jour pour les personnes atteintes de troubles du spectre autistique de la région parisienne.

    Published in:
    Médecine Sciences, 2019, v. 35, n. 11, p. 843, doi. 10.1051/medsci/2019170
    By:
    • Munnich, Arnold;
    • Demily, Caroline;
    • Frugère, Lisa;
    • Duwime, Charlyne;
    • Malan, Valérie;
    • Barcia, Giulia;
    • Vidal, Céline;
    • Throo, Émeline;
    • Besmond, Claude;
    • Hubert, Laurence;
    • Roland-Manuel, Gilles;
    • Malen, Jean-Pierre;
    • Ferreri, Mélanie;
    • Hanein, Sylvain;
    • Boddaert, Nathalie;
    • Assouline, Moise
    Publication type:
    Article
    25

    Chloride deregulation and GABA depolarization in MTOR-related malformations of cortical development.

    Published in:
    Brain: A Journal of Neurology, 2025, v. 148, n. 2, p. 549, doi. 10.1093/brain/awae262
    By:
    • Bakouh, Naziha;
    • Castaño-Martín, Reyes;
    • Metais, Alice;
    • Dan, Emanuela Loredana;
    • Balducci, Estelle;
    • Chhuon, Cerina;
    • Lepicka, Joanna;
    • Barcia, Giulia;
    • Losito, Emma;
    • Lourdel, Stéphane;
    • Planelles, Gabrielle;
    • Muresan, Raul C;
    • Moca, Vasile Vlad;
    • Kaminska, Anna;
    • Bourgeois, Marie;
    • Chemaly, Nicole;
    • Rguez, Yasmine;
    • Auvin, Stéphane;
    • Huberfeld, Gilles;
    • Varlet, Pascale
    Publication type:
    Article
    26
    27

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

    Published in:
    2019
    By:
    • Kuchenbuch, Mathieu;
    • Barcia, Giulia;
    • Chemaly, Nicole;
    • Carme, Emilie;
    • Roubertie, Agathe;
    • Gibaud, Marc;
    • Bogaert, Patrick Van;
    • Martin, Anne de Saint;
    • Hirsch, Edouard;
    • Dubois, Fanny;
    • Sarret, Catherine;
    • Tich, Sylvie Nguyen The;
    • Laroche, Cecile;
    • Portes, Vincent des;
    • Villemeur, Thierry Billette de;
    • Barthez, Marie-Anne;
    • Auvin, Stéphane;
    • Bahi-Buisson, Nadia;
    • Desguerre, Isabelle;
    • Kaminska, Anna
    Publication type:
    journal article
    28

    De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene.

    Published in:
    2018
    By:
    • Chemin, Jean;
    • Siquier-Pernet, Karine;
    • Nicouleau, Michaël;
    • Barcia, Giulia;
    • Ahmad, Ali;
    • Medina-Cano, Daniel;
    • Hanein, Sylvain;
    • Altin, Nami;
    • Hubert, Laurence;
    • Bole-Feysot, Christine;
    • Fourage, Cécile;
    • Nitschké, Patrick;
    • Thevenon, Julien;
    • Rio, Marlène;
    • Blanc, Pierre;
    • vidal, Céline;
    • Bahi-Buisson, Nadia;
    • Desguerre, Isabelle;
    • Munnich, Arnold;
    • Lyonnet, Stanislas
    Publication type:
    journal article
    29
    30

    Primary mitochondrial disorders and mimics: Insights from a large French cohort.

    Published in:
    Annals of Clinical & Translational Neurology, 2024, v. 11, n. 6, p. 1478, doi. 10.1002/acn3.52062
    By:
    • Rouzier, Cécile;
    • Pion, Emmanuelle;
    • Chaussenot, Annabelle;
    • Bris, Céline;
    • Ait‐El‐Mkadem Saadi, Samira;
    • Desquiret‐Dumas, Valérie;
    • Gueguen, Naïg;
    • 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
    Publication type:
    Article
    31

    Expanding the phenotypic spectrum of BCS1L‐related mitochondrial disease.

    Published in:
    Annals of Clinical & Translational Neurology, 2021, v. 8, n. 11, p. 2155, doi. 10.1002/acn3.51470
    By:
    • Hikmat, Omar;
    • Isohanni, Pirjo;
    • Keshavan, Nandaki;
    • Ferla, Matteo P.;
    • Fassone, Elisa;
    • Abbott, Mary‐Alice;
    • Bellusci, Marcello;
    • Darin, Niklas;
    • Dimmock, David;
    • Ghezzi, Daniele;
    • Houlden, Henry;
    • Invernizzi, Federica;
    • Kamarus Jaman, Nazreen B.;
    • Kurian, Manju A.;
    • Morava, Eva;
    • Naess, Karin;
    • Ortigoza‐Escobar, Juan Darío;
    • Parikh, Sumit;
    • Pennisi, Alessandra;
    • Barcia, Giulia
    Publication type:
    Article
    32

    Whole‐exome and HLA sequencing in Febrile infection‐related epilepsy syndrome.

    Published in:
    Annals of Clinical & Translational Neurology, 2020, v. 7, n. 8, p. 1429, doi. 10.1002/acn3.51062
    By:
    • Helbig, Ingo;
    • Barcia, Giulia;
    • Pendziwiat, Manuela;
    • Ganesan, Shiva;
    • Mueller, Stefanie H.;
    • Helbig, Katherine L.;
    • Vaidiswaran, Priya;
    • Xian, Julie;
    • Galer, Peter D.;
    • Afawi, Zaid;
    • Specchio, Nicola;
    • Kluger, Gerhard;
    • Kuhlenbäumer, Gregor;
    • Appenzeller, Silke;
    • Wittig, Michael;
    • Kramer, Uri;
    • Baalen, Andreas;
    • Nabbout, Rima
    Publication type:
    Article
    33

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

    Published in:
    Nature Communications, 2020, v. 11, n. 1, p. N.PAG, doi. 10.1038/s41467-020-19919-y
    By:
    • Ucuncu, Ekin;
    • Rajamani, Karthyayani;
    • Wilson, Miranda S. C.;
    • Medina-Cano, Daniel;
    • Altin, Nami;
    • David, Pierre;
    • Barcia, Giulia;
    • Lefort, Nathalie;
    • Banal, Céline;
    • Vasilache-Dangles, Marie-Thérèse;
    • Pitelet, Gaële;
    • Lorino, Elsa;
    • Rabasse, Nathalie;
    • Bieth, Eric;
    • Zaki, Maha S.;
    • Topcu, Meral;
    • Sonmez, Fatma Mujgan;
    • Musaev, Damir;
    • Stanley, Valentina;
    • Bole-Feysot, Christine
    Publication type:
    Article
    34

    Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness.

    Published in:
    International Journal of Developmental Neuroscience, 2015, v. 47, p. 119, doi. 10.1016/j.ijdevneu.2015.04.319
    By:
    • Hamdan, Fadi F.;
    • Perrault, Isabelle;
    • Rio, Marlène;
    • Capo-Chichi, José-Mario;
    • Boddaert, Nathalie;
    • Décarie, Jean-Claude;
    • Maranda, Bruno;
    • Nabbout, Rima;
    • Sylvain, Michel;
    • Lortie, Anne;
    • Roux, Philippe P.;
    • Rossignol, Elsa;
    • Gérard, Xavier;
    • Barcia, Giulia;
    • Berquin, Patrick;
    • Munnich, Arnold;
    • Rouleau, Guy A.;
    • Kaplan, Josseline;
    • Rozet, Jean-Michel;
    • Michaud, Jacques L.
    Publication type:
    Article
    35

    Heterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene, ATP9A, Alter Dendritic Spine Maturation and Cause Dominantly Inherited Nonsyndromic Intellectual Disability.

    Published in:
    Human Mutation, 2025, v. 2025, p. 1, doi. 10.1155/humu/7085599
    By:
    • Cordovado, Amélie;
    • Hérenger, Yvan;
    • Cormier, Coline;
    • López-Martín, Estrella;
    • Stamberger, Hannah;
    • Faivre, Laurence;
    • Denommé-Pichon, Anne-Sophie;
    • Vitobello, Antonio;
    • Abdallah, Hamza Hadj;
    • Barcia, Giulia;
    • Courtin, Thomas;
    • Martínez-Delgado, Beatriz;
    • Bermejo-Sánchez, Eva;
    • Barrero, María J.;
    • Gasser, Brooklynn;
    • Bezieau, Stéphane;
    • Küry, Sébastien;
    • Weckhuysen, Sarah;
    • Laumonnier, Frédéric;
    • Toutain, Annick
    Publication type:
    Article
    36

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

    Published in:
    Human Mutation, 2020, v. 41, n. 2, p. 397, doi. 10.1002/humu.23937
    By:
    • Barcia, Giulia;
    • Rio, Marlène;
    • Assouline, Zahra;
    • Zangarelli, Coralie;
    • Gueguen, Naig;
    • Dumas, Valerie D.;
    • Marcorelles, Pascale;
    • Schiff, Manuel;
    • Slama, Abdelhamid;
    • Barth, Magalie;
    • Hully, Marie;
    • Lonlay, Pascale;
    • Munnich, Arnold;
    • Desguerre, Isabelle;
    • Bonnefont, Jean‐Paul;
    • Steffann, Julie;
    • Procaccio, Vincent;
    • Boddaert, Nathalie;
    • Rötig, Agnès;
    • Metodiev, Metodi D.
    Publication type:
    Article
    37

    Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.

    Published in:
    Human Mutation, 2020, v. 41, n. 1, p. 69, doi. 10.1002/humu.23915
    By:
    • Bar, Claire;
    • Barcia, Giulia;
    • Jennesson, Mélanie;
    • Le Guyader, Gwenaël;
    • Schneider, Amy;
    • Mignot, Cyril;
    • Lesca, Gaetan;
    • Breuillard, Delphine;
    • Montomoli, Martino;
    • Keren, Boris;
    • Doummar, Diane;
    • Billette de Villemeur, Thierry;
    • Afenjar, Alexandra;
    • Marey, Isabelle;
    • Gerard, Marion;
    • Isnard, Hervé;
    • Poisson, Alice;
    • Dupont, Sophie;
    • Berquin, Patrick;
    • Meyer, Pierre
    Publication type:
    Article
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    39

    Lessons from two series by physicians and caregivers' self‐reported data in DDX3X‐related disorders.

    Published in:
    Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 1, p. 1, doi. 10.1002/mgg3.2363
    By:
    • Ruault, Valentin;
    • Burger, Pauline;
    • Gradels‐Hauguel, Johanna;
    • Ruiz, Nathalie;
    • Jamra, Rami Abou;
    • Afenjar, Alexandra;
    • Alembik, Yves;
    • Alessandri, Jean‐Luc;
    • Arpin, Stéphanie;
    • Barcia, Giulia;
    • Bendová, Šárka;
    • Bruel, Ange‐Line;
    • Charles, Perrine;
    • Chatron, Nicolas;
    • Chopra, Maya;
    • Conrad, Solène;
    • Daire, Valérie Cormier;
    • Cospain, Auriane;
    • Coubes, Christine;
    • Coursimault, Juliette
    Publication type:
    Article
    40

    Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.

    Published in:
    Human Molecular Genetics, 2014, v. 23, n. 12, p. 3200
    By:
    • Martin, Hilary C.;
    • Kim, Grace E.;
    • Pagnamenta, Alistair T.;
    • Murakami, Yoshiko;
    • Carvill, Gemma L.;
    • Meyer, Esther;
    • Copley, Richard R.;
    • Rimmer, Andrew;
    • Barcia, Giulia;
    • Fleming, Matthew R.;
    • Kronengold, Jack;
    • Brown, Maile R.;
    • Hudspith, Karl A.;
    • Broxholme, John;
    • Kanapin, Alexander;
    • Cazier, Jean-Baptiste;
    • Kinoshita, Taroh;
    • Nabbout, Rima;
    • Bentley, David;
    • McVean, Gil
    Publication type:
    Article