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- [21] THAP1 mutations (DYT6) are an additional cause of early-onset dystoniaNEUROLOGY, 2010, 74 (10) : 846 - 850Houlden, H.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England UCL, Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, EnglandSchneider, S. A.论文数: 0 引用数: 0 h-index: 0机构: UCL, Sobell Dept Motor Neurosci & Movement Disorders, Inst Neurol, London WC1N 3BG, England Univ Lubeck, Schilling Dept Clin & Mol Neurogenet, Dept Neurol, Lubeck, Germany UCL, Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, EnglandPaudel, R.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England UCL, Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, EnglandMelchers, A.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England UCL, Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, EnglandSchwingenschuh, P.论文数: 0 引用数: 0 h-index: 0机构: UCL, Sobell Dept Motor Neurosci & Movement Disorders, Inst Neurol, London WC1N 3BG, England UCL, Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, EnglandEdwards, M.论文数: 0 引用数: 0 h-index: 0机构: UCL, Sobell Dept Motor Neurosci & Movement Disorders, Inst Neurol, London WC1N 3BG, England UCL, Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, EnglandHardy, J.论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England UCL, Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, EnglandBhatia, K. P.论文数: 0 引用数: 0 h-index: 0机构: UCL, Sobell Dept Motor Neurosci & Movement Disorders, Inst Neurol, London WC1N 3BG, England UCL, Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England
- [22] Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelinAMERICAN JOURNAL OF HUMAN GENETICS, 2021, 108 (11) : 2145 - 2158Domingo, Aloysius论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USA Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02114 USA Harvard Med Sch, Boston, MA 02114 USA Massachusetts Gen Hosp, Collaborat Ctr X Linked Dystonia Parkinsonism, Dept Neurol, Charlestown, MA 02129 USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA Broad Inst MIT & Harvard, Stanley Ctr Psychiat Res, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USAYadav, Rachita论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USA Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02114 USA Harvard Med Sch, Boston, MA 02114 USA Massachusetts Gen Hosp, Collaborat Ctr X Linked Dystonia Parkinsonism, Dept Neurol, Charlestown, MA 02129 USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA Broad Inst MIT & Harvard, Stanley Ctr Psychiat Res, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USAShah, Shivangi论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Collaborat Ctr X Linked Dystonia Parkinsonism, Dept Neurol, Charlestown, MA 02129 USA Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USAHendriks, William T.论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02114 USA Harvard Med Sch, Boston, MA 02114 USA Massachusetts Gen Hosp, Collaborat Ctr X Linked Dystonia Parkinsonism, Dept Neurol, Charlestown, MA 02129 USA Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USAErdin, Serkan论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA Broad Inst MIT & Harvard, Stanley Ctr Psychiat Res, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USAGao, Dadi论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USA Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02114 USA Harvard Med Sch, Boston, MA 02114 USA Massachusetts Gen Hosp, Collaborat Ctr X Linked Dystonia Parkinsonism, Dept Neurol, Charlestown, MA 02129 USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA Broad Inst MIT & Harvard, Stanley Ctr Psychiat Res, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USAO'Keefe, Kathryn论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA Broad Inst MIT & Harvard, Stanley Ctr Psychiat Res, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USACurrall, Benjamin论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USA Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02114 USA Harvard Med Sch, Boston, MA 02114 USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA Broad Inst MIT & Harvard, Stanley Ctr Psychiat Res, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USAGusella, James F.论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USA Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02114 USA Harvard Med Sch, Boston, MA 02114 USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA Broad Inst MIT & Harvard, Stanley Ctr Psychiat Res, Cambridge, MA 02142 USA Harvard Med Sch, Blavatnik Inst, Dept Genet, Boston, MA 02115 USA Harvard Univ, Harvard Stem Cell Inst, Cambridge, MA 02138 USA Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USASharma, Nutan论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02114 USA Harvard Med Sch, Boston, MA 02114 USA Massachusetts Gen Hosp, Collaborat Ctr X Linked Dystonia Parkinsonism, Dept Neurol, Charlestown, MA 02129 USA Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USAOzelius, Laurie J.论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02114 USA Harvard Med Sch, Boston, MA 02114 USA Massachusetts Gen Hosp, Collaborat Ctr X Linked Dystonia Parkinsonism, Dept Neurol, Charlestown, MA 02129 USA Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USAEhrlich, Michelle E.论文数: 0 引用数: 0 h-index: 0机构: Icahn Sch Med Mt Sinai, Dept Neurol, New York, NY 10029 USA Icahn Sch Med Mt Sinai, Dept Pediat, New York, NY 10029 USA Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USA Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USATalkowski, Michael E.论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USA Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02114 USA Harvard Med Sch, Boston, MA 02114 USA Massachusetts Gen Hosp, Collaborat Ctr X Linked Dystonia Parkinsonism, Dept Neurol, Charlestown, MA 02129 USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA Broad Inst MIT & Harvard, Stanley Ctr Psychiat Res, Cambridge, MA 02142 USA Harvard Med Sch, Blavatnik Inst, Dept Genet, Boston, MA 02115 USA Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USABragg, D. Cristopher论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Dept Neurol, Boston, MA 02114 USA Harvard Med Sch, Boston, MA 02114 USA Massachusetts Gen Hosp, Collaborat Ctr X Linked Dystonia Parkinsonism, Dept Neurol, Charlestown, MA 02129 USA Massachusetts Gen Hosp, Ctr Genom Med, Boston, MA 02114 USA
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- [25] Mutations in the THAP1 (DYT6) gene - a cause of generalized dystonia with prominent spasmodic dysphoniaPARKINSONISM & RELATED DISORDERS, 2009, 15 : S46 - S47Schneider, S. A.论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Neurogenet, Lubeck, Germany Univ Lubeck, Neurogenet, Lubeck, GermanyDjarmati, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Neurogenet, Lubeck, Germany Univ Lubeck, Neurogenet, Lubeck, GermanyLohmann, K.论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Neurogenet, Lubeck, Germany Univ Lubeck, Neurogenet, Lubeck, GermanyWinkler, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Neurogenet, Lubeck, Germany Univ Lubeck, Neurogenet, Lubeck, GermanyPawlack, H.论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Neurogenet, Lubeck, Germany Univ Lubeck, Neurogenet, Lubeck, GermanyHagenah, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Neurol, Lubeck, Germany Univ Lubeck, Neurogenet, Lubeck, GermanyBrueggemann, N.论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Neurol, Lubeck, Germany Univ Lubeck, Neurogenet, Lubeck, GermanyZittel, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Hamburg, Neurol, Hamburg, Germany Univ Lubeck, Neurogenet, Lubeck, GermanyFuchs, T.论文数: 0 引用数: 0 h-index: 0机构: Mt Sinai Sch Med, Genet & Genom Sci, New York, NY USA Univ Lubeck, Neurogenet, Lubeck, GermanyRakovic, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Neurogenet, Lubeck, Germany Univ Lubeck, Neurogenet, Lubeck, GermanySchmidt, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Neurol, Lubeck, Germany Univ Lubeck, Neurogenet, Lubeck, GermanyJabusch, H. -C.论文数: 0 引用数: 0 h-index: 0机构: Hsch Musik Carl Maria von Weber, Inst Musikermed, Dresden, Germany Univ Lubeck, Neurogenet, Lubeck, GermanyWilcox, R.论文数: 0 引用数: 0 h-index: 0机构: Prince Charles Hosp, Brisbane, Qld, Australia Univ Lubeck, Neurogenet, Lubeck, GermanyKostic, V. S.论文数: 0 引用数: 0 h-index: 0机构: CCS, Inst Neurol, Belgrade, Serbia Univ Lubeck, Neurogenet, Lubeck, GermanySiebner, H.论文数: 0 引用数: 0 h-index: 0机构: Copenhagen Univ Hosp Hvidovre, Dept Magnet Resonance, Danish Res Ctr Magnet Resonance, Copenhagen, Denmark Univ Lubeck, Neurogenet, Lubeck, GermanyMuenchau, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Hamburg, Neurol, Hamburg, Germany Univ Lubeck, Neurogenet, Lubeck, GermanyOzelius, L. J.论文数: 0 引用数: 0 h-index: 0机构: Mt Sinai Sch Med, Genet & Genom Sci, New York, NY USA Mt Sinai Sch Med, Dept Neurol, New York, NJ USA Univ Lubeck, Neurogenet, Lubeck, GermanyKlein, C.论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Neurogenet, Lubeck, Germany Univ Lubeck, Neurogenet, Lubeck, Germany
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- [29] Truncating Mutations in THAP1 Define the Nuclear Localization SignalMOVEMENT DISORDERS, 2011, 26 (08) : 1565 - 1567Osmanovic, Alma论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Human Genet, Lubeck, Germany Univ Lubeck, Dept Neurol, Sect Clin & Mol Neurogenet, Lubeck, GermanyDendorfer, Andreas论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Expt & Clin Pharmacol & Toxicol, Lubeck, Germany Univ Lubeck, Dept Neurol, Sect Clin & Mol Neurogenet, Lubeck, GermanyErogullari, Alev论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Human Genet, Lubeck, Germany Univ Lubeck, Dept Neurol, Sect Clin & Mol Neurogenet, Lubeck, GermanyUflacker, Nils论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Dept Neurol, Sect Clin & Mol Neurogenet, Lubeck, Germany Univ Lubeck, Dept Neurol, Sect Clin & Mol Neurogenet, Lubeck, GermanyBraunholz, Diana论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Human Genet, Lubeck, Germany Univ Lubeck, Dept Neurol, Sect Clin & Mol Neurogenet, Lubeck, GermanyRakovic, Aleksandar论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Dept Neurol, Sect Clin & Mol Neurogenet, Lubeck, Germany Univ Lubeck, Dept Neurol, Sect Clin & Mol Neurogenet, Lubeck, GermanyVierke, Gudrun论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Expt & Clin Pharmacol & Toxicol, Lubeck, Germany Univ Lubeck, Dept Neurol, Sect Clin & Mol Neurogenet, Lubeck, GermanyGil-Rodriguez, Conchi论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Human Genet, Lubeck, Germany Univ Zaragoza, Dept Physiol & Pharmacol, Sch Med, Lab Clin Genet & Funct Genom, Zaragoza, Spain Univ Lubeck, Dept Neurol, Sect Clin & Mol Neurogenet, Lubeck, GermanyMuenchau, Alexander论文数: 0 引用数: 0 h-index: 0机构: Univ Hosp Hamburg Eppendorf, Dept Neurol, Hamburg, Germany Univ Lubeck, Dept Neurol, Sect Clin & Mol Neurogenet, Lubeck, GermanyAlbrecht, Melanie论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Human Genet, Lubeck, Germany Univ Lubeck, Dept Neurol, Sect Clin & Mol Neurogenet, Lubeck, GermanyBrueggemann, Norbert论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Dept Neurol, Sect Clin & Mol Neurogenet, Lubeck, Germany Univ Lubeck, Dept Neurol, Sect Clin & Mol Neurogenet, Lubeck, GermanyGillessen-Kaesbach, Gabriele论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Human Genet, Lubeck, Germany Univ Lubeck, Dept Neurol, Sect Clin & Mol Neurogenet, Lubeck, GermanyKlein, Christine论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Dept Neurol, Sect Clin & Mol Neurogenet, Lubeck, Germany Univ Lubeck, Dept Neurol, Sect Clin & Mol Neurogenet, Lubeck, GermanyLohmann, Katja论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Dept Neurol, Sect Clin & Mol Neurogenet, Lubeck, Germany Univ Lubeck, Dept Neurol, Sect Clin & Mol Neurogenet, Lubeck, GermanyKaiser, Frank J.论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Human Genet, Lubeck, Germany Univ Lubeck, Dept Neurol, Sect Clin & Mol Neurogenet, Lubeck, Germany
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