Works by Ledoux, S.


Results: 86
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    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
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    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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    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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    A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic Paraplegia.

    Published in:
    Movement Disorders, 2022, v. 37, n. 2, p. 375, doi. 10.1002/mds.28821
    By:
    • Neilson, Derek E.;
    • Zech, Michael;
    • Hufnagel, Robert B.;
    • Slone, Jesse;
    • Wang, Xinjian;
    • Homan, Shelli;
    • Gutzwiller, Lisa M.;
    • Leslie, Elizabeth J.;
    • Leslie, Nancy D.;
    • Xiao, Jianfeng;
    • Hedera, Peter;
    • LeDoux, Mark S.;
    • Gebelein, Brian;
    • Wilbert, Friederike;
    • Eckenweiler, Matthias;
    • Winkelmann, Juliane;
    • Gilbert, Donald L.;
    • Huang, Taosheng
    Publication type:
    Article
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    A Multi‐center Genome‐wide Association Study of Cervical Dystonia.

    Published in:
    Movement Disorders, 2021, v. 36, n. 12, p. 2795, doi. 10.1002/mds.28732
    By:
    • Sun, Yan V.;
    • Li, Chengchen;
    • Hui, Qin;
    • Huang, Yunfeng;
    • Barbano, Richard;
    • Rodriguez, Ramon;
    • Malaty, Irene A.;
    • Reich, Stephen;
    • Bambarger, Kimberly;
    • Holmes, Katie;
    • Jankovic, Joseph;
    • Patel, Neepa J.;
    • Roze, Emmanuel;
    • Vidailhet, Marie;
    • Berman, Brian D.;
    • LeDoux, Mark S.;
    • Espay, Alberto J.;
    • Agarwal, Pinky;
    • Pirio‐Richardson, Sarah;
    • Frank, Samuel A.
    Publication type:
    Article
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    Clinical and Demographic Characteristics of Upper Limb Dystonia.

    Published in:
    Movement Disorders, 2020, v. 35, n. 11, p. 2086, doi. 10.1002/mds.28223
    By:
    • Norris, Scott A.;
    • Jinnah, Hyder A.;
    • Klein, Christine;
    • Jankovic, Joseph;
    • Berman, Brian D.;
    • Roze, Emmanuel;
    • Mahajan, Abhimanyu;
    • Espay, Alberto J.;
    • Murthy, Avinash V.;
    • Fung, Victor S.C.;
    • LeDoux, Mark S.;
    • Chang, Florence C.F.;
    • Vidailhet, Marie;
    • Testa, Claudia;
    • Barbano, Richard;
    • Malaty, Irene A.;
    • Bäumer, Tobias;
    • Loens, Sebastian;
    • Wright, Laura J.;
    • Perlmutter, Joel 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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    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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    Oromandibular Dystonia: A Clinical Examination of 2,020 Cases.

    Published in:
    Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.700714
    By:
    • Scorr, Laura M.;
    • Factor, Stewart A.;
    • Parra, Sahyli Perez;
    • Kaye, Rachel;
    • Paniello, Randal C.;
    • Norris, Scott A.;
    • Perlmutter, Joel S.;
    • Bäumer, Tobias;
    • Usnich, Tatiana;
    • Berman, Brian D.;
    • Mailly, Marie;
    • Roze, Emmanuel;
    • Vidailhet, Marie;
    • Jankovic, Joseph;
    • LeDoux, Mark S.;
    • Barbano, Richard;
    • Chang, Florence C. F.;
    • Fung, Victor S. C.;
    • Pirio Richardson, Sarah;
    • Blitzer, Andrew
    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
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    High-throughput mutational analysis of TOR1A in primary dystonia.

    Published in:
    BMC Medical Genetics, 2009, v. 10, p. 1, doi. 10.1186/1471-2350-10-24
    By:
    • Jianfeng Xiao;
    • Bastian, Robert W.;
    • Perlmutter, Joel S.;
    • Racette, Brad A.;
    • Tabbal, Samer D.;
    • Karimi, Morvarid;
    • Paniello, Randal C.;
    • Blitzer, Andrew;
    • Batish, Sat Dev;
    • Wszolek, Zbigniew K.;
    • Uitti, Ryan J.;
    • Hedera, Peter;
    • Simon, David K.;
    • Tarsy, Daniel;
    • Truong, Daniel D.;
    • Frei, Karen P.;
    • Pfeiffer, Ronald F.;
    • Suzhen Gong;
    • Yu Zhao;
    • LeDoux, Mark S.
    Publication type:
    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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    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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    The identification and neurochemical characterization of central neurons that target parasympathetic preganglionic neurons involved in the regulation of choroidal blood flow in the rat eye using pseudorabies virus, immunolabeling and conventional pathway tracing methods

    Published in:
    Frontiers in Neuroanatomy, 2015, p. 1, doi. 10.3389/fnana.2015.00065
    By:
    • Chunyan Li;
    • Fitzgerald, Malinda E. C.;
    • Del Mar, Nobel;
    • Cuthbertson-Coates, Sherry;
    • LeDoux, Mark S.;
    • Suzhen Gong;
    • Ryan, James P.;
    • Reiner, Anton
    Publication type:
    Article
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    Sex Differences in Dystonia.

    Published in:
    Movement Disorders Clinical Practice, 2024, v. 11, n. 8, p. 973, doi. 10.1002/mdc3.14059
    By:
    • Kilic‐Berkmen, Gamze;
    • Scorr, Laura M.;
    • McKay, Lucas;
    • Thayani, Mehreen;
    • Donsante, Yuping;
    • Perlmutter, Joel S.;
    • Norris, Scott A.;
    • Wright, Laura;
    • Klein, Christine;
    • Feuerstein, Jeanne S.;
    • Mahajan, Abhimanyu;
    • Wagle‐Shukla, Aparna;
    • Malaty, Irene;
    • LeDoux, Mark S.;
    • Pirio‐Richardson, Sarah;
    • Pantelyat, Alexander;
    • Moukheiber, Emile;
    • Frank, Samuel;
    • Ondo, William;
    • Saunders‐Pullman, Rachel
    Publication type:
    Article
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    An Empirical Comparison of Commonly Used Universal Rating Scales for Dystonia.

    Published in:
    Movement Disorders Clinical Practice, 2023, v. 10, n. 12, p. 1777, doi. 10.1002/mdc3.13909
    By:
    • Boz, Deniz;
    • Kilic‐Berkmen, Gamze;
    • Perlmutter, Joel S.;
    • Norris, Scott A.;
    • Wright, Laura J.;
    • Klein, Christine;
    • Bäumer, Tobias;
    • Löns, Sebastian;
    • Feuerstein, Jeanne S.;
    • Mahajan, Abhimanyu;
    • Wagle‐Shukla, Aparna;
    • Malaty, Irene;
    • LeDoux, Mark S.;
    • Ondo, William;
    • Pantelyat, Alexander;
    • Frank, Samuel;
    • Saunders‐Pullman, Rachel;
    • Jinnah, H.A.
    Publication type:
    Article