Found: 18

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  • ADCY5 mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias.

    Published in:
    2016
    By:
    • Friedman, Jennifer R.;
    • Méneret, Aurélie;
    • Chen, Dong‐Hui;
    • Trouillard, Oriane;
    • Vidailhet, Marie;
    • Raskind, Wendy H.;
    • Roze, Emmanuel
    Publication type:
    letter

  • De novo mutations in HCN1 cause early infantile epileptic encephalopathy.

    Published in:
    Nature Genetics, 2014, v. 46, n. 6, p. 640, doi. 10.1038/ng.2952
    By:
    • Nava, Caroline;
    • Dalle, Carine;
    • Rastetter, Agnès;
    • Striano, Pasquale;
    • de Kovel, Carolien G F;
    • Nabbout, Rima;
    • Cancès, Claude;
    • Ville, Dorothée;
    • Brilstra, Eva H;
    • Gobbi, Giuseppe;
    • Raffo, Emmanuel;
    • Bouteiller, Delphine;
    • Marie, Yannick;
    • Trouillard, Oriane;
    • Robbiano, Angela;
    • Keren, Boris;
    • Agher, Dahbia;
    • Roze, Emmanuel;
    • Lesage, Suzanne;
    • Nicolas, Aude
    Publication type:
    Article

  • Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females.

    Published in:
    PLoS Genetics, 2009, v. 5, n. 2, p. 1, doi. 10.1371/journal.pgen.1000381
    By:
    • Depienne, Christel;
    • Bouteiller, Delphine;
    • Keren, Boris;
    • Cheuret, Emmanuel;
    • Poirier, Karine;
    • Trouillard, Oriane;
    • Benyahia, Baya;
    • Quelin, Chloé;
    • Carpentier, Wassila;
    • Julia, Sophie;
    • Afenjar, Alexandra;
    • Gautier, Agnès;
    • Rivier, François;
    • Meyer, Sophie;
    • Berquin, Patrick;
    • Hélias, Marie;
    • Py, Isabelle;
    • Rivera, Serge;
    • Bahi-Buisson, Nadia;
    • Gourfinkel-An, Isabelle
    Publication type:
    Article

  • Correction: Association of Rare Genetic Variants in Opioid Receptors with Tourette Syndrome.

    Published in:
    2023
    By:
    • Depienne, Christel;
    • Ciura, Sorana;
    • Trouillard, Oriane;
    • Bouteiller, Delphine;
    • Leitão, Elsa;
    • Nava, Caroline;
    • Keren, Boris;
    • Marie, Yannick;
    • Guegan, Justine;
    • Forlani, Sylvie;
    • Brice, Alexis;
    • Anheim, Mathieu;
    • Agid, Yves;
    • Krack, Paul;
    • Damier, Philippe;
    • Viallet, François;
    • Houeto, Jean-Luc;
    • Durif, Franck;
    • Vidailhet, Marie;
    • Worbe, Yulia
    Publication type:
    Correction Notice

  • Association of Rare Genetic Variants in Opioid Receptors with Tourette Syndrome.

    Published in:
    Tremor & Other Hyperkinetic Movements, 2019, p. 1, doi. 10.7916/tohm.v0.693
    By:
    • Depienne, Christel;
    • Ciura, Sorana;
    • Trouillard, Oriane;
    • Bouteiller, Delphine;
    • Leitão, Elsa;
    • Nava, Caroline;
    • Keren, Boris;
    • Marie, Yannick;
    • Guegan, Justine;
    • Forlani, Sylvie;
    • Brice, Alexis;
    • Anheim, Mathieu;
    • Agid, Yves;
    • Krack, Paul;
    • Damier, Philippe;
    • Viallet, François;
    • Houeto, Jean-Luc;
    • Durif, Franck;
    • Vidailhet, Marie;
    • Worbe, Yulia
    Publication type:
    Article

  • Congenital mirror movements: no mutation in DNAL4 in 17 index cases.

    Published in:
    2014
    By:
    • Méneret, Aurélie;
    • Trouillard, Oriane;
    • Vidailhet, Marie;
    • Depienne, Christel;
    • Roze, Emmanuel
    Publication type:
    Letter

  • Mutations in the netrin-1 gene cause congenital mirror movements.

    Published in:
    Journal of Clinical Investigation, 2017, v. 127, n. 11, p. 3923, doi. 10.1172/JCI95442
    By:
    • Méneret, Aurélie;
    • Franz, Elizabeth A.;
    • Trouillard, Oriane;
    • Oliver, Thomas C.;
    • Zagar, Yvrick;
    • Robertson, Stephen P.;
    • Welniarz, Quentin;
    • Gardner, R. J. MacKinlay;
    • Gallea, Cécile;
    • Srour, Myriam;
    • Depienne, Christel;
    • Jasoni, Christine L.;
    • Dubacq, Caroline;
    • Riant, Florence;
    • Lamy, Jean-Charles;
    • Morel, Marie-Pierre;
    • Guérois, Raphael;
    • Andreani, Jessica;
    • Fouquet, Coralie;
    • Doulazmi, Mohamed
    Publication type:
    Article

  • Intragenic deletion of UBE3A gene in 2 sisters with Angelman syndrome detected by MLPA.

    Published in:
    American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3170, doi. 10.1002/ajmg.a.34334
    By:
    • Piard, Juliette;
    • Depienne, Christel;
    • Keren, Boris;
    • Fédirko, Estelle;
    • Trouillard, Oriane;
    • Charles, Perrine;
    • Heron, Delphine
    Publication type:
    Article

  • Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy.

    Published in:
    Human Mutation, 2006, v. 27, n. 4, p. 389, doi. 10.1002/humu.9419
    By:
    • Depienne, Christel;
    • Arzimanoglou, Alexis;
    • Trouillard, Oriane;
    • Fedirko, Estelle;
    • Baulac, Stéphanie;
    • Saint-Martin, Cécile;
    • Ruberg, Merle;
    • Dravet, Charlotte;
    • Nabbout, Rima;
    • Baulac, Michel;
    • Gourfinkel-An, Isabelle;
    • Leguern, Eric
    Publication type:
    Article

  • The supplementary motor area modulates interhemispheric interactions during movement preparation.

    Published in:
    Human Brain Mapping, 2019, v. 40, n. 7, p. 2125, doi. 10.1002/hbm.24512
    By:
    • Welniarz, Quentin;
    • Gallea, Cécile;
    • Lamy, Jean‐Charles;
    • Méneret, Aurélie;
    • Popa, Traian;
    • Valabregue, Romain;
    • Béranger, Benoît;
    • Brochard, Vanessa;
    • Flamand‐Roze, Constance;
    • Trouillard, Oriane;
    • Bonnet, Cécilia;
    • Brüggemann, Norbert;
    • Bitoun, Pierre;
    • Degos, Bertrand;
    • Hubsch, Cécile;
    • Hainque, Elodie;
    • Golmard, Jean‐Louis;
    • Vidailhet, Marie;
    • Lehéricy, Stéphane;
    • Dusart, Isabelle
    Publication type:
    Article

  • Congenital mirror movements caused by a mutation in the DCC gene.

    Published in:
    Developmental Medicine & Child Neurology, 2015, v. 57, n. 8, p. 776, doi. 10.1111/dmcn.12810
    By:
    • Meneret, Aurelie;
    • Trouillard, Oriane;
    • Brochard, Vanessa;
    • Roze, Emmanuel
    Publication type:
    Article

  • Comment on "Defining the Genetic Landscape of Congenital Mirror Movements in 80 Affected Individuals".

    Published in:
    Movement Disorders, 2024, v. 39, n. 5, p. 925, doi. 10.1002/mds.29799
    By:
    • Trouillard, Oriane;
    • Méneret, Aurélie;
    • Dunoyer, Margaux;
    • Doulazmi, Mohamed;
    • Dusart, Isabelle;
    • Dubacq, Caroline;
    • Roze, Emmanuel
    Publication type:
    Article

  • Rare Missense Variants in KCNJ10 Are Associated with Paroxysmal Kinesigenic Dyskinesia.

    Published in:
    Movement Disorders, 2024, v. 39, n. 5, p. 897, doi. 10.1002/mds.29752
    By:
    • Wirth, Thomas;
    • Roze, Emmanuel;
    • Delvallée, Clarisse;
    • Trouillard, Oriane;
    • Drouot, Nathalie;
    • Damier, Philippe;
    • Boulay, Clotilde;
    • Bourgninaud, Marine;
    • Jegatheesan, Prasanthi;
    • Sangare, Aude;
    • Forlani, Sylvie;
    • Gaymard, Bertrand;
    • Hervochon, Remi;
    • Navarro, Vincent;
    • Calmels, Nadège;
    • Schalk, Audrey;
    • Tranchant, Christine;
    • Piton, Amélie;
    • Méneret, Aurélie;
    • Anheim, Mathieu
    Publication type:
    Article

  • DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome.

    Published in:
    Human Mutation, 2018, v. 39, n. 1, p. 23, doi. 10.1002/humu.23361
    By:
    • Marsh, Ashley P. L.;
    • Edwards, Timothy J.;
    • Galea, Charles;
    • Cooper, Helen M.;
    • Engle, Elizabeth C.;
    • Jamuar, Saumya S.;
    • Méneret, Aurélie;
    • Moutard, Marie‐Laure;
    • Nava, Caroline;
    • Rastetter, Agnès;
    • Robinson, Gail;
    • Rouleau, Guy;
    • Roze, Emmanuel;
    • Spencer‐Smith, Megan;
    • Trouillard, Oriane;
    • Billette de Villemeur, Thierry;
    • Walsh, Christopher A.;
    • Yu, Timothy W.;
    • IRC5 Consortium;
    • Heron, Delphine
    Publication type:
    Article

  • Cover Image, Volume 39, Issue 1.

    Published in:
    Human Mutation, 2018, v. 39, n. 1, p. i, doi. 10.1002/humu.23372
    By:
    • Marsh, Ashley P. L.;
    • Edwards, Timothy J.;
    • Galea, Charles;
    • Cooper, Helen M.;
    • Engle, Elizabeth C.;
    • Jamuar, Saumya S.;
    • Méneret, Aurélie;
    • Moutard, Marie‐Laure;
    • Nava, Caroline;
    • Rastetter, Agnès;
    • Robinson, Gail;
    • Rouleau, Guy;
    • Roze, Emmanuel;
    • Spencer‐Smith, Megan;
    • Trouillard, Oriane;
    • Billette de Villemeur, Thierry;
    • Walsh, Christopher A.;
    • Yu, Timothy W.;
    • IRC5 Consortium;
    • Heron, Delphine
    Publication type:
    Article

  • Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.

    Published in:
    Human Mutation, 2011, v. 32, n. 1, p. E1959, doi. 10.1002/humu.21373
    By:
    • Depienne, Christel;
    • Trouillard, Oriane;
    • Bouteiller, Delphine;
    • Gourfinkel-An, Isabelle;
    • Poirier, Karine;
    • Rivier, François;
    • Berquin, Patrick;
    • Nabbout, Rima;
    • Chaigne, Denys;
    • Steschenko, Dominique;
    • Gautier, Agnès;
    • Hoffman-Zacharska, Dorota;
    • Lannuzel, Annie;
    • Lackmy-Port-Lis, Marilyn;
    • Maurey, Hélène;
    • Dusser, Anne;
    • Bru, Marie;
    • Gilbert-Dussardier, Brigitte;
    • Roubertie, Agathe;
    • Kaminska, Anna
    Publication type:
    Article

  • Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism.

    Published in:
    Journal of Molecular Medicine, 2011, v. 89, n. 9, p. 915, doi. 10.1007/s00109-011-0758-y
    By:
    • Couarch, Philippe;
    • Vernia, Santiago;
    • Gourfinkel-An, Isabelle;
    • Lesca, Gaëtan;
    • Gataullina, Svetlana;
    • Fedirko, Estelle;
    • Trouillard, Oriane;
    • Depienne, Christel;
    • Dulac, Olivier;
    • Steschenko, Dominique;
    • Leguern, Eric;
    • Sanz, Pascual;
    • Baulac, Stéphanie
    Publication type:
    Article

  • STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients.

    Published in:
    Epilepsia (Series 4), 2011, v. 52, n. 10, p. 1820, doi. 10.1111/j.1528-1167.2011.03163.x
    By:
    • Mignot, Cyril;
    • Moutard, Marie-Laure;
    • Trouillard, Oriane;
    • Gourfinkel-An, Isabelle;
    • Jacquette, Aurélia;
    • Arveiler, Benoit;
    • Morice-Picard, Fanny;
    • Lacombe, Didier;
    • Chiron, Catherine;
    • Ville, Dorothée;
    • Charles, Perrine;
    • LeGuern, Eric;
    • Depienne, Christel;
    • Héron, Delphine
    Publication type:
    Article