Found: 8

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  • The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD).

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 10, p. 4233, doi. 10.1093/brain/awad153
    By:
    • Allen, Nicholas M;
    • O'Rahelly, Mark;
    • Eymard, Bruno;
    • Chouchane, Mondher;
    • Hahn, Andreas;
    • Kearns, Gerry;
    • Kim, Dae-Seong;
    • Byun, Shin Yun;
    • Nguyen, Cam-Tu Emilie;
    • Schara-Schmidt, Ulrike;
    • Kölbel, Heike;
    • Marina, Adela Della;
    • Schneider-Gold, Christiane;
    • Roefke, Kathryn;
    • Thieme, Andrea;
    • Bergh, Peter Van den;
    • Avalos, Gloria;
    • Álvarez-Velasco, Rodrigo;
    • Benito, Daniel Natera-de;
    • Cheng, Man Hin Mark
    Publication type:
    Article

  • Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.

    Published in:
    Nature Genetics, 2014, v. 46, n. 5, p. 503, doi. 10.1038/ng.2933
    By:
    • Rice, Gillian I;
    • del Toro Duany, Yoandris;
    • Jenkinson, Emma M;
    • Forte, Gabriella M A;
    • Anderson, Beverley H;
    • Ariaudo, Giada;
    • Bader-Meunier, Brigitte;
    • Baildam, Eileen M;
    • Battini, Roberta;
    • Beresford, Michael W;
    • Casarano, Manuela;
    • Chouchane, Mondher;
    • Cimaz, Rolando;
    • Collins, Abigail E;
    • Cordeiro, Nuno J V;
    • Dale, Russell C;
    • Davidson, Joyce E;
    • De Waele, Liesbeth;
    • Desguerre, Isabelle;
    • Faivre, Laurence
    Publication type:
    Article

  • Angelman Syndrome: A Case Series Assessing Neurological Issues in Adulthood.

    Published in:
    European Neurology, 2015, v. 73, n. 1/2, p. 119, doi. 10.1159/000369454
    By:
    • Giroud, Marie;
    • Daubail, Benoît;
    • Khayat, Norbert;
    • Chouchane, Mondher;
    • Berger, Eric;
    • Muzard, Emelyne;
    • Medeiros de Bustos, Elisabeth;
    • Thauvin-Robinet, Christel;
    • Faivre, Laurence;
    • Masurel, alice;
    • Darmency-Stamboul, Véronique;
    • Huet, Frédéric;
    • Béjot, Yannick;
    • Giroud, Maurice;
    • Moulin, Thierry
    Publication type:
    Article

  • Sitting in patients with spinal muscular atrophy type 1 treated with nusinersen.

    Published in:
    2020
    By:
    • Aragon‐Gawinska, Karolina;
    • Daron, Aurore;
    • Ulinici, Ana;
    • Vanden Brande, Laura;
    • Seferian, Andreea;
    • Gidaro, Teresa;
    • Scoto, Mariacristina;
    • Deconinck, Nicolas;
    • Servais, Laurent;
    • Benezit, Audrey;
    • Mathieu, Marie‐Laure;
    • Cances, Claude;
    • Durigneux, Julien;
    • Ropars, Juliette;
    • Chouchane, Mondher;
    • Forey, Peggy;
    • Lazaro, Leila;
    • Hughes, Imelda;
    • Illingworth, Marjorie;
    • Marini‐Bettolo, Chiara
    Publication type:
    journal article

  • Delineation of a new chromosome 20q11.2 duplication syndrome including the ASXL1 gene.

    Published in:
    American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1594, doi. 10.1002/ajmg.a.35970
    By:
    • Avila, Magali;
    • Kirchhoff, Maria;
    • Marle, Nathalie;
    • Hove, Hanna D.;
    • Chouchane, Mondher;
    • Thauvin‐Robinet, Christel;
    • Masurel, Alice;
    • Mosca‐Boidron, Anne‐Laure;
    • Callier, Patrick;
    • Mugneret, Francine;
    • Kjaergaard, Susanne;
    • Faivre, Laurence
    Publication type:
    Article

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

    Published in:
    2020
    By:
    • Audic, Frédérique;
    • de la Banda, Marta Gomez Garcia;
    • Bernoux, Delphine;
    • Ramirez-Garcia, Paola;
    • Durigneux, Julien;
    • Barnerias, Christine;
    • Isapof, Arnaud;
    • Cuisset, Jean-Marie;
    • Cances, Claude;
    • Richelme, Christian;
    • Vuillerot, Carole;
    • Laugel, Vincent;
    • Ropars, Juliette;
    • Altuzarra, Cécilia;
    • Espil-Taris, Caroline;
    • Walther-Louvier, Ulrike;
    • Sabouraud, Pascal;
    • Chouchane, Mondher;
    • Vanhulle, Catherine;
    • Trommsdorff, Valérie
    Publication type:
    journal article

  • Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.

    Published in:
    Epilepsia (Series 4), 2015, v. 56, n. 12, p. 1931, doi. 10.1111/epi.13214
    By:
    • Di Meglio, Chloé;
    • Lesca, Gaetan;
    • Villeneuve, Nathalie;
    • Lacoste, Caroline;
    • Abidi, Affef;
    • Cacciagli, Pierre;
    • Altuzarra, Cécilia;
    • Roubertie, Agathe;
    • Afenjar, Alexandra;
    • Renaldo‐Robin, Florence;
    • Isidor, Bertrand;
    • Gautier, Agnes;
    • Husson, Marie;
    • Cances, Claude;
    • Metreau, Julia;
    • Laroche, Cécile;
    • Chouchane, Mondher;
    • Ville, Dorothée;
    • Marignier, Stéphanie;
    • Rougeot, Christelle
    Publication type:
    Article

  • Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations.

    Published in:
    Epilepsia (Series 4), 2011, v. 52, n. 10, p. 1828, doi. 10.1111/j.1528-1167.2011.03181.x
    By:
    • Milh, Mathieu;
    • Villeneuve, Nathalie;
    • Chouchane, Mondher;
    • Kaminska, Anna;
    • Laroche, Cécile;
    • Barthez, Marie Anne;
    • Gitiaux, Cyril;
    • Bartoli, Céline;
    • Borges-Correia, Ana;
    • Cacciagli, Pierre;
    • Mignon-Ravix, Cécile;
    • Cuberos, Hélène;
    • Chabrol, Brigitte;
    • Villard, Laurent
    Publication type:
    Article