Works matching DE "MYOCLONUS genetics"

Results: 24
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    Mild Lafora disease: Clinical, neurophysiologic, and genetic findings.

    Published in:
    Epilepsia (Series 4), 2014, v. 55, n. 12, p. e129, doi. 10.1111/epi.12806
    By:
    • Ferlazzo, Edoardo;
    • Canafoglia, Laura;
    • Michelucci, Roberto;
    • Gambardella, Antonio;
    • Gennaro, Elena;
    • Pasini, Elena;
    • Riguzzi, Patrizia;
    • Plasmati, Rosaria;
    • Volpi, Lilia;
    • Labate, Angelo;
    • Gasparini, Sara;
    • Villani, Flavio;
    • Casazza, Marina;
    • Viri, Maurizio;
    • Zara, Federico;
    • Minassian, Berge A.;
    • Turnbull, Julie;
    • Serratosa, Jose M.;
    • Guerrero‐López, Rosa;
    • Franceschetti, Silvana
    Publication type:
    Article
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    Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations.

    Published in:
    Human Genetics, 2002, v. 111, n. 3, p. 255, doi. 10.1007/s00439-002-0755-x
    By:
    • Moulard, Bruno;
    • Genton, Pierre;
    • Grid, Djamel;
    • Jeanpierre, Marc;
    • Ouazzani, Réda;
    • Mrabet, Amel;
    • Morris, Mike;
    • LeGuern, Eric;
    • Dravet, Charlotte;
    • Mauguière, François;
    • Utermann, Barbara;
    • Baldy-Moulinier, Michel;
    • Belaidi, Halima;
    • Bertran, Françoise;
    • Biraben, Arnaud;
    • Ali Chérif, André;
    • Chkili, Taieb;
    • Crespel, Arielle;
    • Darcel, Françoise;
    • Dulac, Olivier
    Publication type:
    Article
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    Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 4, p. 1155, doi. 10.1093/brain/awt068
    By:
    • Stogmann, Elisabeth;
    • Reinthaler, Eva;
    • ElTawil, Salwa;
    • El Etribi, Mohammed A.;
    • Hemeda, Mahmoud;
    • El Nahhas, Nevine;
    • Gaber, Ahmed M.;
    • Fouad, Amal;
    • Edris, Sherif;
    • Benet-Pages, Anna;
    • Eck, Sebastian H.;
    • Pataraia, Ekaterina;
    • Mei, Davide;
    • Brice, Alexis;
    • Lesage, Suzanne;
    • Guerrini, Renzo;
    • Zimprich, Friedrich;
    • Strom, Tim M.;
    • Zimprich, Alexander
    Publication type:
    Article
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    SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype.

    Published in:
    Journal of Neurology, 2014, v. 261, n. 12, p. 2296, doi. 10.1007/s00415-014-7488-3
    By:
    • Peall, Kathryn;
    • Kurian, Manju;
    • Wardle, Mark;
    • Waite, Adrian;
    • Hedderly, Tammy;
    • Lin, Jean-Pierre;
    • Smith, Martin;
    • Whone, Alan;
    • Pall, Hardev;
    • White, Cathy;
    • Lux, Andrew;
    • Jardine, Philip;
    • Lynch, Bryan;
    • Kirov, George;
    • O'Riordan, Sean;
    • Samuel, Michael;
    • Lynch, Timothy;
    • King, Mary;
    • Chinnery, Patrick;
    • Warner, Thomas
    Publication type:
    Article
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    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
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    Instability of the EPM1 minisatellite.

    Published in:
    Human Molecular Genetics, 1999, v. 8, n. 11, p. 1985, doi. 10.1093/hmg/8.11.1985
    By:
    • Larson, Garry P.;
    • Ding, Shaofeng;
    • Lafreniere, Ronald G.;
    • Rouleau, Guy A.;
    • Krontiris, Theodore G.
    Publication type:
    Article
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    A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2).

    Published in:
    Human Molecular Genetics, 1999, v. 8, n. 2, p. 345, doi. 10.1093/hmg/8.2.345
    By:
    • Serratosa, José M.;
    • Gómez-Garre, Pilar;
    • Gallardo, Ma Esther;
    • Anta, Berta;
    • Beltrán-Valero de Bernabé, Daniel;
    • Lindhout, Dick;
    • Augustijn, Paul B.;
    • Tassinari, Carlo A.;
    • Malafosse, Roberto Michelucci6, Alain;
    • Topcu, Meral;
    • Grid, Djamel;
    • Dravet, Charlotte;
    • Berkovic, Samuel F.;
    • Rodríguez de Córdoba, Santiago
    Publication type:
    Article
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