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- [1] A rare sequence variant in intron 1 of THAP1 is associated with primary dystoniaMOLECULAR GENETICS & GENOMIC MEDICINE, 2014, 2 (03): : 261 - 272Vemula, Satya R.论文数: 0 引用数: 0 h-index: 0机构: Univ Tennessee, Hlth Sci Ctr, Dept Neurol & Anat & Neurobiol, Memphis, TN 38163 USA Univ Tennessee, Hlth Sci Ctr, Dept Neurol & Anat & Neurobiol, Memphis, TN 38163 USAXiao, Jianfeng论文数: 0 引用数: 0 h-index: 0机构: Univ Tennessee, Hlth Sci Ctr, Dept Neurol & Anat & Neurobiol, Memphis, TN 38163 USA Univ Tennessee, Hlth Sci Ctr, Dept Neurol & Anat & Neurobiol, Memphis, TN 38163 USAZhao, Yu论文数: 0 引用数: 0 h-index: 0机构: Univ Tennessee, Hlth Sci Ctr, Dept Neurol & Anat & Neurobiol, Memphis, TN 38163 USA Univ Tennessee, Hlth Sci Ctr, Dept Neurol & Anat & Neurobiol, Memphis, TN 38163 USABastian, Robert W.论文数: 0 引用数: 0 h-index: 0机构: Bastian Voice Inst, Downers Grove, IL USA Univ Tennessee, Hlth Sci Ctr, Dept Neurol & Anat & Neurobiol, Memphis, TN 38163 USAPerlmutter, Joel S.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Dept Neurol, St Louis, MO 63110 USA Univ Tennessee, Hlth Sci Ctr, Dept Neurol & Anat & Neurobiol, Memphis, TN 38163 USARacette, Brad A.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Dept Neurol, St Louis, MO 63110 USA Univ Tennessee, Hlth Sci Ctr, Dept Neurol & Anat & Neurobiol, Memphis, TN 38163 USAPaniello, Randal C.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Dept Otolaryngol Head & Neck Surg, St Louis, MO 63110 USA Univ Tennessee, Hlth Sci Ctr, Dept Neurol & Anat & Neurobiol, Memphis, TN 38163 USAWszolek, Zbigniew K.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Neurol, Jacksonville, FL 32224 USA Univ Tennessee, Hlth Sci Ctr, Dept Neurol & Anat & Neurobiol, Memphis, TN 38163 USAUitti, Ryan J.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Neurol, Jacksonville, FL 32224 USA Univ Tennessee, Hlth Sci Ctr, Dept Neurol & Anat & Neurobiol, Memphis, TN 38163 USAVan Gerpen, Jay A.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Neurol, Jacksonville, FL 32224 USA Univ Tennessee, Hlth Sci Ctr, Dept Neurol & Anat & Neurobiol, Memphis, TN 38163 USA论文数: 引用数: h-index:机构:Truong, Daniel D.论文数: 0 引用数: 0 h-index: 0机构: Parkinsons & Movement Disorder Inst, Fountain Valley, CA 92708 USA Univ Tennessee, Hlth Sci Ctr, Dept Neurol & Anat & Neurobiol, Memphis, TN 38163 USABlitzer, Andrew论文数: 0 引用数: 0 h-index: 0机构: New York Ctr Voice & Swallowing Disorders, New York, NY USA Univ Tennessee, Hlth Sci Ctr, Dept Neurol & Anat & Neurobiol, Memphis, TN 38163 USARudzinska, Monika论文数: 0 引用数: 0 h-index: 0机构: Jagiellonian Univ, Med Coll, Dept Neurol, Krakow, Poland Univ Tennessee, Hlth Sci Ctr, Dept Neurol & Anat & Neurobiol, Memphis, TN 38163 USAMomcilovic, Dragana论文数: 0 引用数: 0 h-index: 0机构: Univ Belgrade, Med Fac, Clin Child Neurol & Psychiat, Belgrade, Serbia Univ Tennessee, Hlth Sci Ctr, Dept Neurol & Anat & Neurobiol, Memphis, TN 38163 USAJinnah, Hyder A.论文数: 0 引用数: 0 h-index: 0机构: Emory Univ, Sch Med, Dept Neurol Human Genet & Pediat, Atlanta, GA 30322 USA Univ Tennessee, Hlth Sci Ctr, Dept Neurol & Anat & Neurobiol, Memphis, TN 38163 USAFrei, Karen论文数: 0 引用数: 0 h-index: 0机构: Loma Linda Univ Hlth Syst, Dept Neurol, Loma Linda, CA 92354 USA Univ Tennessee, Hlth Sci Ctr, Dept Neurol & Anat & Neurobiol, Memphis, TN 38163 USAPfeiffer, Ronald F.论文数: 0 引用数: 0 h-index: 0机构: Univ Tennessee, Hlth Sci Ctr, Dept Neurol & Anat & Neurobiol, Memphis, TN 38163 USA Univ Tennessee, Hlth Sci Ctr, Dept Neurol & Anat & Neurobiol, Memphis, TN 38163 USALeDoux, Mark S.论文数: 0 引用数: 0 h-index: 0机构: Univ Tennessee, Hlth Sci Ctr, Dept Neurol & Anat & Neurobiol, Memphis, TN 38163 USA Univ Tennessee, Hlth Sci Ctr, Dept Neurol & Anat & Neurobiol, Memphis, TN 38163 USA
- [2] Novel THAP1 sequence variants in primary dystoniaNEUROLOGY, 2010, 74 (03) : 229 - 238Xiao, J.论文数: 0 引用数: 0 h-index: 0机构: Univ Tennessee, Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USA Univ Tennessee, Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USAZhao, Y.论文数: 0 引用数: 0 h-index: 0机构: Univ Tennessee, Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USA Univ Tennessee, Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USABastian, R. W.论文数: 0 引用数: 0 h-index: 0机构: Bastian Voice Inst, Downers Grove, IL USA Univ Tennessee, Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USAPerlmutter, J. S.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Dept Neurol, St Louis, MO 63110 USA Univ Tennessee, Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USARacette, B. A.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Dept Neurol, St Louis, MO 63110 USA Univ Tennessee, Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USATabbal, S. D.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Dept Neurol, St Louis, MO 63110 USA Univ Tennessee, Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USAKarimi, M.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Dept Neurol, St Louis, MO 63110 USA Univ Tennessee, Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USAPaniello, R. C.论文数: 0 引用数: 0 h-index: 0机构: Washington Univ, Sch Med, Dept Neurol, St Louis, MO 63110 USA Univ Tennessee, Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USAWszolek, Z. K.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Neurol, Jacksonville, FL 32224 USA Univ Tennessee, Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USAUitti, R. J.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Neurol, Jacksonville, FL 32224 USA Univ Tennessee, Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USAVan Gerpen, J. A.论文数: 0 引用数: 0 h-index: 0机构: Mayo Clin, Dept Neurol, Jacksonville, FL 32224 USA Univ Tennessee, Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USASimon, D. K.论文数: 0 引用数: 0 h-index: 0机构: Beth Israel Deaconess Med Ctr, Dept Neurol, Boston, MA 02215 USA Univ Tennessee, Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USATarsy, D.论文数: 0 引用数: 0 h-index: 0机构: Beth Israel Deaconess Med Ctr, Dept Neurol, Boston, MA 02215 USA Univ Tennessee, Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USA论文数: 引用数: h-index:机构:Truong, D. D.论文数: 0 引用数: 0 h-index: 0机构: Parkinsons & Movement Disorder Inst, Fountain Valley, CA USA Univ Tennessee, Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USAFrei, K. P.论文数: 0 引用数: 0 h-index: 0机构: Parkinsons & Movement Disorder Inst, Fountain Valley, CA USA Univ Tennessee, Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USABatish, S. Dev论文数: 0 引用数: 0 h-index: 0机构: Athena Diagnost Inc, Worcester, MA USA Univ Tennessee, Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USABlitzer, A.论文数: 0 引用数: 0 h-index: 0机构: New York Ctr Voice & Swallowing Disorders, New York, NY USA Univ Tennessee, Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USAPfeiffer, R. F.论文数: 0 引用数: 0 h-index: 0机构: Univ Tennessee, Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USA Univ Tennessee, Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USAGong, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Tennessee, Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USA Univ Tennessee, Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USALeDoux, M. S.论文数: 0 引用数: 0 h-index: 0机构: Univ Tennessee, Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USA Univ Tennessee, Hlth Sci Ctr, Dept Anat & Neurobiol, Memphis, TN 38163 USA Univ Tennessee, Hlth Sci Ctr, Dept Neurol, Memphis, TN 38163 USA
- [3] Screening for Rare Sequence Variants in the THAP1 Gene in a Primary Dystonia CohortMOVEMENT DISORDERS, 2013, 28 (12) : 1752 - 1753Newman, Jeremy R. B.论文数: 0 引用数: 0 h-index: 0机构: Griffith Univ, Eskitis Inst Cell & Mol Therapies, Brisbane, Qld 4111, Australia Griffith Univ, Eskitis Inst Cell & Mol Therapies, Brisbane, Qld 4111, AustraliaLehn, Alexander C.论文数: 0 引用数: 0 h-index: 0机构: Princess Alexandra Hosp, Dept Neurol, Brisbane, Qld 4102, Australia Griffith Univ, Eskitis Inst Cell & Mol Therapies, Brisbane, Qld 4111, AustraliaBoyle, Richard S.论文数: 0 引用数: 0 h-index: 0机构: Princess Alexandra Hosp, Dept Neurol, Brisbane, Qld 4102, Australia Griffith Univ, Eskitis Inst Cell & Mol Therapies, Brisbane, Qld 4111, AustraliaSilburn, Peter A.论文数: 0 引用数: 0 h-index: 0机构: Univ Queensland, Sch Med, Royal Brisbane & Womens Hosp, Clin Res Ctr, Brisbane, Qld, Australia Griffith Univ, Eskitis Inst Cell & Mol Therapies, Brisbane, Qld 4111, AustraliaMellick, George D.论文数: 0 引用数: 0 h-index: 0机构: Griffith Univ, Eskitis Inst Cell & Mol Therapies, Brisbane, Qld 4111, Australia Princess Alexandra Hosp, Dept Neurol, Brisbane, Qld 4102, Australia Griffith Univ, Eskitis Inst Cell & Mol Therapies, Brisbane, Qld 4111, Australia
- [4] THAP1 Associated Dystonia: An NBIA MimicMOVEMENT DISORDERS CLINICAL PRACTICE, 2023, 10 (12): : 1815 - 1817Agarwal, Ayush论文数: 0 引用数: 0 h-index: 0机构: All India Inst Med Sci, Dept Neurol, New Delhi, India All India Inst Med Sci, Dept Neurol, New Delhi, IndiaGarg, Divyani论文数: 0 引用数: 0 h-index: 0机构: All India Inst Med Sci, Dept Neurol, New Delhi, India All India Insitute Med Sci, Dept Neurol, New Delhi 110029, India All India Inst Med Sci, Dept Neurol, New Delhi, IndiaRajan, Roopa论文数: 0 引用数: 0 h-index: 0机构: All India Inst Med Sci, Dept Neurol, New Delhi, India All India Inst Med Sci, Dept Neurol, New Delhi, IndiaGarg, Ajay论文数: 0 引用数: 0 h-index: 0机构: All India Inst Med Sci, Dept Neuroimaging & Intervent Neuroradiol, New Delhi, India All India Inst Med Sci, Dept Neurol, New Delhi, IndiaSrivastava, Achal Kumar论文数: 0 引用数: 0 h-index: 0机构: All India Inst Med Sci, Dept Neurol, New Delhi, India All India Inst Med Sci, Dept Neurol, New Delhi, India
- [5] Novel THAP1 Mutations in Primary DystoniaNEUROLOGY, 2009, 73 (04) : 331 - 331Ledoux, Mark论文数: 0 引用数: 0 h-index: 0Xiao, Jianfeng论文数: 0 引用数: 0 h-index: 0Pfeiffer, Ronald F.论文数: 0 引用数: 0 h-index: 0Zhao, Yu论文数: 0 引用数: 0 h-index: 0Bastian, Robert论文数: 0 引用数: 0 h-index: 0Perlmutter, Joel S.论文数: 0 引用数: 0 h-index: 0Tabbal, Samer D.论文数: 0 引用数: 0 h-index: 0Karimi, Morvarid论文数: 0 引用数: 0 h-index: 0Paniello, Randal论文数: 0 引用数: 0 h-index: 0Racette, Brad A.论文数: 0 引用数: 0 h-index: 0Blitzer, Andrew论文数: 0 引用数: 0 h-index: 0Batish, Dev论文数: 0 引用数: 0 h-index: 0Simon, David K.论文数: 0 引用数: 0 h-index: 0Tarsy, Daniel论文数: 0 引用数: 0 h-index: 0Wszolek, Zbigniew K.论文数: 0 引用数: 0 h-index: 0Uitti, Ryan J.论文数: 0 引用数: 0 h-index: 0Van Gerpen, Jay A.论文数: 0 引用数: 0 h-index: 0Hedera, Peter论文数: 0 引用数: 0 h-index: 0Truong, Daniel D.论文数: 0 引用数: 0 h-index: 0Frei, Karen P.论文数: 0 引用数: 0 h-index: 0
- [6] Prevalence of THAP1 Sequence Variants in German Patients with Primary DystoniaMOVEMENT DISORDERS, 2010, 25 (12) : 1982 - 1986Soehn, Anne S.论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Human Genet, Dept Med Genet, D-72076 Tubingen, Germany Univ Tubingen, Inst Human Genet, Dept Med Genet, D-72076 Tubingen, GermanyGloeckle, Nicola论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Human Genet, Dept Med Genet, D-72076 Tubingen, Germany Univ Tubingen, Inst Human Genet, Dept Med Genet, D-72076 Tubingen, GermanyDoetzer, Andrea Duarte论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Human Genet, Dept Med Genet, D-72076 Tubingen, Germany Univ Tubingen, Inst Human Genet, Dept Med Genet, D-72076 Tubingen, GermanyDeuschl, Guenther论文数: 0 引用数: 0 h-index: 0机构: Univ Kiel, Dept Neurol, D-2300 Kiel, Germany Univ Tubingen, Inst Human Genet, Dept Med Genet, D-72076 Tubingen, GermanyFelbor, Ute论文数: 0 引用数: 0 h-index: 0机构: Ernst Moritz Arndt Univ Greifswald, Inst Human Genet, Greifswald, Germany Univ Tubingen, Inst Human Genet, Dept Med Genet, D-72076 Tubingen, GermanyTopka, Helge R.论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Acad Hosp Bogenhausen, Dept Neurol & Clin Neurophysiol, Munich, Germany Univ Tubingen, Inst Human Genet, Dept Med Genet, D-72076 Tubingen, GermanySchoels, Ludger论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Hertie Inst Clin Brain Res, Dept Neurodegenerat Dis, D-72076 Tubingen, Germany Univ Tubingen, Inst Human Genet, Dept Med Genet, D-72076 Tubingen, GermanyRiess, Olaf论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Human Genet, Dept Med Genet, D-72076 Tubingen, Germany Univ Tubingen, Inst Human Genet, Dept Med Genet, D-72076 Tubingen, GermanyBauer, Peter论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Human Genet, Dept Med Genet, D-72076 Tubingen, Germany Univ Tubingen, Inst Human Genet, Dept Med Genet, D-72076 Tubingen, GermanyMueller, Ulrich论文数: 0 引用数: 0 h-index: 0机构: Univ Giessen, Inst Human Genet, Giessen, Germany Univ Tubingen, Inst Human Genet, Dept Med Genet, D-72076 Tubingen, GermanyGrundmann, Kathrin论文数: 0 引用数: 0 h-index: 0机构: Univ Tubingen, Inst Human Genet, Dept Med Genet, D-72076 Tubingen, Germany Univ Tubingen, Inst Human Genet, Dept Med Genet, D-72076 Tubingen, Germany
- [7] The c.-237_236GA>TT THAP1 sequence variant is not associated with a significantly increased risk for primary dystoniaMOVEMENT DISORDERS, 2010, 25 (07) : S476 - S476LeDoux, M. S.论文数: 0 引用数: 0 h-index: 0Xiao, J.论文数: 0 引用数: 0 h-index: 0Zhao, Y.论文数: 0 引用数: 0 h-index: 0Bastian, R. W.论文数: 0 引用数: 0 h-index: 0Perlmutte, J. S.论文数: 0 引用数: 0 h-index: 0Racette, B. A.论文数: 0 引用数: 0 h-index: 0Tabbal, S. D.论文数: 0 引用数: 0 h-index: 0Karimi, M.论文数: 0 引用数: 0 h-index: 0Paniello, R. C.论文数: 0 引用数: 0 h-index: 0Wszolek, Z. K.论文数: 0 引用数: 0 h-index: 0Uitti, R. J.论文数: 0 引用数: 0 h-index: 0Van Gerpen, J. A.论文数: 0 引用数: 0 h-index: 0Simon, D. K.论文数: 0 引用数: 0 h-index: 0Tarsy, D.论文数: 0 引用数: 0 h-index: 0Hedera, P.论文数: 0 引用数: 0 h-index: 0Truong, D. D.论文数: 0 引用数: 0 h-index: 0Frei, K.论文数: 0 引用数: 0 h-index: 0Batish, S. D.论文数: 0 引用数: 0 h-index: 0Blitzer, A.论文数: 0 引用数: 0 h-index: 0Pfeiffer, R. F.论文数: 0 引用数: 0 h-index: 0Le, C.论文数: 0 引用数: 0 h-index: 0Akano, E.论文数: 0 引用数: 0 h-index: 0
- [8] Genetic screening of THAP1 in primary dystonia patients of IndiaNEUROSCIENCE LETTERS, 2017, 637 : 31 - 37Giri, Subhajit论文数: 0 引用数: 0 h-index: 0机构: Univ Calcutta, SN Pradhan Ctr Neurosci, Kolkata, India Univ Calcutta, SN Pradhan Ctr Neurosci, Kolkata, IndiaNaiya, Tufan论文数: 0 引用数: 0 h-index: 0机构: Univ Calcutta, SN Pradhan Ctr Neurosci, Kolkata, India Univ Calcutta, SN Pradhan Ctr Neurosci, Kolkata, India论文数: 引用数: h-index:机构:Sankhla, Charulata Savant论文数: 0 引用数: 0 h-index: 0机构: PD Hinduja Natl Hosp & Med Res Ctr, Bombay, Maharashtra, India Univ Calcutta, SN Pradhan Ctr Neurosci, Kolkata, IndiaDas, Shyamal Kumar论文数: 0 引用数: 0 h-index: 0机构: Bangur Inst Neurosci, Kolkata, India Univ Calcutta, SN Pradhan Ctr Neurosci, Kolkata, India论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:
- [9] THAP1 Role in focal dystonia?NEUROLOGY, 2010, 74 (03) : 192 - 193Ozelius, Laurie J.论文数: 0 引用数: 0 h-index: 0机构: Mt Sinai Sch Med, Dept Genet, New York, NY 10029 USA Mt Sinai Sch Med, Dept Genom Sci & Neurol, New York, NY 10029 USA Mt Sinai Sch Med, Dept Genet, New York, NY 10029 USABressman, Susan B.论文数: 0 引用数: 0 h-index: 0机构: Beth Israel Deaconess Med Ctr, Dept Neurol, New York, NY 10003 USA Albert Einstein Coll Med, Dept Neurol, Bronx, NY 10467 USA Mt Sinai Sch Med, Dept Genet, New York, NY 10029 USA
- [10] Oromandibular and Laryngeal Dystonia Secondary to Dystonia 6 Due to THAP1 Variant in a ChildINDIAN JOURNAL OF PEDIATRICS, 2021, 88 (06): : 596 - 596Gowda, Vykuntaraju K.论文数: 0 引用数: 0 h-index: 0机构: Indira Gandhi Inst Child Hlth, Dept Pediat Neurol, Bangalore 560029, Karnataka, India Indira Gandhi Inst Child Hlth, Dept Pediat Neurol, Bangalore 560029, Karnataka, IndiaBattina, Manojna论文数: 0 引用数: 0 h-index: 0机构: Indira Gandhi Inst Child Hlth, Dept Pediat Neurol, Bangalore 560029, Karnataka, India Indira Gandhi Inst Child Hlth, Dept Pediat Neurol, Bangalore 560029, Karnataka, IndiaSrinivasan, Varunvenkat M.论文数: 0 引用数: 0 h-index: 0机构: Indira Gandhi Inst Child Hlth, Dept Pediat Neurol, Bangalore 560029, Karnataka, India Indira Gandhi Inst Child Hlth, Dept Pediat Neurol, Bangalore 560029, Karnataka, IndiaShivappa, Sanjay K.论文数: 0 引用数: 0 h-index: 0机构: Indira Gandhi Inst Child Hlth, Dept Pediat Med, Bangalore, Karnataka, India Indira Gandhi Inst Child Hlth, Dept Pediat Neurol, Bangalore 560029, Karnataka, India