Works matching AU Ledoux, S.


Results: 86
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    TOR2A Variants in Blepharospasm.

    Published in:
    Tremor & Other Hyperkinetic Movements, 2023, v. 13, p. 1, doi. 10.5334/tohm.825
    By:
    • Saeirad, Samira;
    • LeDoux, Mark S.
    Publication type:
    Article
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    Clinical and demographic characteristics related to onset site and spread of cervical dystonia.

    Published in:
    2016
    By:
    • Norris, Scott A.;
    • Jinnah, H. A.;
    • Espay, Alberto J.;
    • Klein, Christine;
    • Brüggemann, Norbert;
    • Barbano, Richard L.;
    • Malaty, Irene Andonia C.;
    • Rodriguez, Ramon L.;
    • Vidailhet, Marie;
    • Roze, Emmanuel;
    • Reich, Stephen G.;
    • Berman, Brian D.;
    • LeDoux, Mark S.;
    • Richardson, Sarah Pirio;
    • Agarwal, Pinky;
    • Mari, Zoltan;
    • Ondo, William G.;
    • Shih, Ludy C.;
    • Fox, Susan H.;
    • Berardelli, Alfredo
    Publication type:
    journal article
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    Letters to the Editor.

    Published in:
    Movement Disorders, 1997, v. 12, n. 5, p. 818, doi. 10.1002/mds.870120537
    By:
    • Jankovic, Joseph;
    • Scott, Burton L.;
    • Evans, Randolph W.;
    • Kamphorst, Wouter;
    • Ravid, Rivka;
    • Ledoux, Mark S.
    Publication type:
    Article
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    RESPONSE.

    Published in:
    Journal of Neurosurgery, 1994, v. 80, n. 1, p. 180
    By:
    • LEDOUX, MARK S.;
    • FAYE-PETERSEN, DNA M.;
    • VANDENBERG, SCOTT
    Publication type:
    Article
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    A recurrent de novo missense mutation in UBTF causes developmental neuroregression.

    Published in:
    Human Molecular Genetics, 2018, v. 27, n. 4, p. 691, doi. 10.1093/hmg/ddx435
    By:
    • Toro, Camilo;
    • Hori, Roderick T.;
    • Malicdan, May Christine V.;
    • Tifft, Cynthia J.;
    • Goldstein, Amy;
    • Gahl, William A.;
    • Adams, David R.;
    • Harper, Fauni;
    • Wolfe, Lynne A.;
    • Jianfeng Xiao;
    • Khan, Mohammad M.;
    • Tian, Jun;
    • Hope, Kevin A.;
    • Reiter, Lawrence T.;
    • Tremblay, Michel G.;
    • Moss, Tom;
    • Franks, Alexis L.;
    • Balak, Chris;
    • LeDoux, Mark S.
    Publication type:
    Article
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    Rescue of neuropsychiatric phenotypes in a mouse model of 16p11.2 duplication syndrome by genetic correction of an epilepsy network hub.

    Published in:
    Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-36087-x
    By:
    • Forrest, Marc P.;
    • Dos Santos, Marc;
    • Piguel, Nicolas H.;
    • Wang, Yi-Zhi;
    • Hawkins, Nicole A.;
    • Bagchi, Vikram A.;
    • Dionisio, Leonardo E.;
    • Yoon, Sehyoun;
    • Simkin, Dina;
    • Martin-de-Saavedra, Maria Dolores;
    • Gao, Ruoqi;
    • Horan, Katherine E.;
    • George Jr., Alfred L.;
    • LeDoux, Mark S.;
    • Kearney, Jennifer A.;
    • Savas, Jeffrey N.;
    • Penzes, Peter
    Publication type:
    Article
    29

    Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3.

    Published in:
    Science Translational Medicine, 2020, v. 12, n. 566, p. 1, doi. 10.1126/scitranslmed.abb7086
    By:
    • Prudencio, Mercedes;
    • Garcia-Moreno, Hector;
    • Jansen-West, Karen R.;
    • AL-Shaikh, Rana Hanna;
    • Gendron, Tania F.;
    • Heckman, Michael G.;
    • Spiegel, Matthew R.;
    • Carlomagno, Yari;
    • Daughrity, Lillian M.;
    • Song, Yuping;
    • Dunmore, Judith A.;
    • Byron, Natalie;
    • Oskarsson, Björn;
    • Nicholson, Katharine A.;
    • Staff, Nathan P.;
    • Gorcenco, Sorina;
    • Puschmann, Andreas;
    • Lemos, João;
    • Januário, Cristina;
    • LeDoux, Mark S.
    Publication type:
    Article
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    Mutations in CIZ1 cause adult onset primary cervical dystonia.

    Published in:
    Annals of Neurology, 2012, v. 71, n. 4, p. 458, doi. 10.1002/ana.23547
    By:
    • Xiao, Jianfeng;
    • Uitti, Ryan J.;
    • Zhao, Yu;
    • Vemula, Satya R.;
    • Perlmutter, Joel S.;
    • Wszolek, Zbigniew K.;
    • Maraganore, Demetrius M.;
    • Auburger, Georg;
    • Leube, Barbara;
    • Lehnhoff, Katja;
    • LeDoux, Mark S.
    Publication type:
    Article
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    Vocal development in dystonic rats.

    Published in:
    Physiological Reports, 2015, v. 3, n. 4, p. n/a, doi. 10.14814/phy2.12350
    By:
    • Riede, Tobias;
    • Zhao, Yu;
    • LeDoux, Mark S.
    Publication type:
    Article
    41

    Whole‐exome sequencing for variant discovery in blepharospasm.

    Published in:
    Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 4, p. 601, doi. 10.1002/mgg3.411
    By:
    • Tian, Jun;
    • Vemula, Satya R.;
    • Xiao, Jianfeng;
    • Valente, Enza Maria;
    • Defazio, Giovanni;
    • Petrucci, Simona;
    • Gigante, Angelo Fabio;
    • Rudzińska‐Bar, Monika;
    • Wszolek, Zbigniew K.;
    • Kennelly, Kathleen D.;
    • Uitti, Ryan J.;
    • van Gerpen, Jay A.;
    • Hedera, Peter;
    • Trimble, Elizabeth J.;
    • LeDoux, Mark S.
    Publication type:
    Article
    42

    A rare sequence variant in intron 1 of THAP1 is associated with primary dystonia.

    Published in:
    Molecular Genetics & Genomic Medicine, 2014, v. 2, n. 3, p. 261, doi. 10.1002/mgg3.67
    By:
    • Vemula, Satya R.;
    • Xiao, Jianfeng;
    • Zhao, Yu;
    • Bastian, Robert W.;
    • Perlmutter, Joel S.;
    • Racette, Brad A.;
    • Paniello, Randal C.;
    • Wszolek, Zbigniew K.;
    • Uitti, Ryan J.;
    • Gerpen, Jay A.;
    • Hedera, Peter;
    • Truong, Daniel D.;
    • Blitzer, Andrew;
    • Rudzińska, Monika;
    • Momčilović, Dragana;
    • Jinnah, Hyder A.;
    • Frei, Karen;
    • Pfeiffer, Ronald F.;
    • LeDoux, Mark S.
    Publication type:
    Article
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