共 50 条
- [1] Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystoniaNature Genetics, 2009, 41 : 286 - 288Tania Fuchs论文数: 0 引用数: 0 h-index: 0机构: Mount Sinai School of Medicine,Department of Genetics and Genomic SciencesSophie Gavarini论文数: 0 引用数: 0 h-index: 0机构: Mount Sinai School of Medicine,Department of Genetics and Genomic SciencesRachel Saunders-Pullman论文数: 0 引用数: 0 h-index: 0机构: Mount Sinai School of Medicine,Department of Genetics and Genomic SciencesDeborah Raymond论文数: 0 引用数: 0 h-index: 0机构: Mount Sinai School of Medicine,Department of Genetics and Genomic SciencesMichelle E Ehrlich论文数: 0 引用数: 0 h-index: 0机构: Mount Sinai School of Medicine,Department of Genetics and Genomic SciencesSusan B Bressman论文数: 0 引用数: 0 h-index: 0机构: Mount Sinai School of Medicine,Department of Genetics and Genomic SciencesLaurie J Ozelius论文数: 0 引用数: 0 h-index: 0机构: Mount Sinai School of Medicine,Department of Genetics and Genomic Sciences
- [2] Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystoniaNATURE GENETICS, 2009, 41 (03) : 286 - 288Fuchs, Tania论文数: 0 引用数: 0 h-index: 0机构: Mt Sinai Sch Med, Dept Genet & Genome Sci, New York, NY 10029 USA Mt Sinai Sch Med, Dept Genet & Genome Sci, New York, NY 10029 USAGavarini, Sophie论文数: 0 引用数: 0 h-index: 0机构: Mt Sinai Sch Med, Dept Genet & Genome Sci, New York, NY 10029 USA Mt Sinai Sch Med, Dept Genet & Genome Sci, New York, NY 10029 USASaunders-Pullman, Rachel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 10461 USA Mt Sinai Sch Med, Dept Genet & Genome Sci, New York, NY 10029 USARaymond, Deborah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 Mt Sinai Sch Med, Dept Genet & Genome Sci, New York, NY 10029 USAEhrlich, Michelle E.论文数: 0 引用数: 0 h-index: 0机构: Mt Sinai Sch Med, Dept Neurol, New York, NY 10029 USA Mt Sinai Sch Med, Dept Pediat, New York, NY 10029 USA Mt Sinai Sch Med, Dept Genet & Genome Sci, 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 10461 USA Mt Sinai Sch Med, Dept Genet & Genome Sci, New York, NY 10029 USAOzelius, Laurie J.论文数: 0 引用数: 0 h-index: 0机构: Mt Sinai Sch Med, Dept Genet & Genome Sci, New York, NY 10029 USA Mt Sinai Sch Med, Dept Neurol, New York, NY 10029 USA Mt Sinai Sch Med, Dept Genet & Genome Sci, New York, NY 10029 USA
- [3] 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
- [4] Homozygous THAP1 Mutations as Cause of Early-Onset Generalized DystoniaNEUROLOGY, 2011, 76 (09) : A19 - A19Schneider, Susanne论文数: 0 引用数: 0 h-index: 0Ramirez, Alfredo论文数: 0 引用数: 0 h-index: 0Shafiee, Kaveh论文数: 0 引用数: 0 h-index: 0Kaiser, Frank论文数: 0 引用数: 0 h-index: 0Erogullari, Alev论文数: 0 引用数: 0 h-index: 0Bruggemann, Norbert论文数: 0 引用数: 0 h-index: 0Winkler, Susen论文数: 0 引用数: 0 h-index: 0Bahman, Ideh论文数: 0 引用数: 0 h-index: 0Osmanovic, Alma论文数: 0 引用数: 0 h-index: 0Shafa, M.论文数: 0 引用数: 0 h-index: 0Bhatia, Kailash论文数: 0 引用数: 0 h-index: 0Najmabadi, Hossein论文数: 0 引用数: 0 h-index: 0Klein, Christine论文数: 0 引用数: 0 h-index: 0Lohmann, Katja论文数: 0 引用数: 0 h-index: 0
- [5] Homozygous THAP1 Mutations as Cause of Early-Onset Generalized DystoniaMOVEMENT DISORDERS, 2011, 26 (05) : 858 - 861Schneider, Susanne A.论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Dept Neurol, Sect Clin & Mol Neurogenet, D-23538 Lubeck, Germany UCL Inst Neurol, Sobell Dept Motor Neurosci & Movement Disorders, London, England Univ Lubeck, Dept Neurol, Sect Clin & Mol Neurogenet, D-23538 Lubeck, GermanyRamirez, Alfredo论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Dept Neurol, Sect Clin & Mol Neurogenet, D-23538 Lubeck, Germany Univ Lubeck, Dept Neurol, Sect Clin & Mol Neurogenet, D-23538 Lubeck, Germany论文数: 引用数: h-index:机构:Kaiser, Frank J.论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Human Genet, D-23538 Lubeck, Germany Univ Lubeck, Dept Neurol, Sect Clin & Mol Neurogenet, D-23538 Lubeck, GermanyErogullari, Alev论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Human Genet, D-23538 Lubeck, Germany Univ Lubeck, Dept Neurol, Sect Clin & Mol Neurogenet, D-23538 Lubeck, GermanyBrueggemann, Norbert论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Dept Neurol, Sect Clin & Mol Neurogenet, D-23538 Lubeck, Germany Univ Lubeck, Dept Neurol, Sect Clin & Mol Neurogenet, D-23538 Lubeck, GermanyWinkler, Susen论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Dept Neurol, Sect Clin & Mol Neurogenet, D-23538 Lubeck, Germany Univ Lubeck, Dept Neurol, Sect Clin & Mol Neurogenet, D-23538 Lubeck, GermanyBahman, Ideh论文数: 0 引用数: 0 h-index: 0机构: Univ Social Welf & Rehabil Sci, Tehran, Iran Genet Res Ctr, Tehran, Iran Univ Lubeck, Dept Neurol, Sect Clin & Mol Neurogenet, D-23538 Lubeck, GermanyOsmanovic, Alma论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Inst Human Genet, D-23538 Lubeck, Germany Univ Lubeck, Dept Neurol, Sect Clin & Mol Neurogenet, D-23538 Lubeck, GermanyShafa, Mohammad A.论文数: 0 引用数: 0 h-index: 0机构: Kerman Univ Med Sci, Shafa Hosp, Dept Neurol, Kerman, Iran Univ Lubeck, Dept Neurol, Sect Clin & Mol Neurogenet, D-23538 Lubeck, GermanyBhatia, Kailish P.论文数: 0 引用数: 0 h-index: 0机构: UCL Inst Neurol, Sobell Dept Motor Neurosci & Movement Disorders, London, England Univ Lubeck, Dept Neurol, Sect Clin & Mol Neurogenet, D-23538 Lubeck, GermanyNajmabadi, Hossein论文数: 0 引用数: 0 h-index: 0机构: Univ Social Welf & Rehabil Sci, Tehran, Iran Genet Res Ctr, Tehran, Iran Univ Lubeck, Dept Neurol, Sect Clin & Mol Neurogenet, D-23538 Lubeck, GermanyKlein, Christine论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Dept Neurol, Sect Clin & Mol Neurogenet, D-23538 Lubeck, Germany Univ Lubeck, Dept Neurol, Sect Clin & Mol Neurogenet, D-23538 Lubeck, GermanyLohmann, Katja论文数: 0 引用数: 0 h-index: 0机构: Univ Lubeck, Dept Neurol, Sect Clin & Mol Neurogenet, D-23538 Lubeck, Germany Univ Lubeck, Dept Neurol, Sect Clin & Mol Neurogenet, D-23538 Lubeck, Germany
- [6] Novel THAP1 gene mutations in patients with primary dystonia from Southwest ChinaJOURNAL OF THE NEUROLOGICAL SCIENCES, 2011, 309 (1-2) : 63 - 67Song, Wei论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, W China Hosp, Dept Neurol, Chengdu 610041, Sichuan, Peoples R China Sichuan Univ, W China Hosp, Dept Neurol, Chengdu 610041, Sichuan, Peoples R ChinaChen, YongPing论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, W China Hosp, Dept Neurol, Chengdu 610041, Sichuan, Peoples R China Sichuan Univ, W China Hosp, Dept Neurol, Chengdu 610041, Sichuan, Peoples R ChinaHuang, Rui论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, W China Hosp, Dept Neurol, Chengdu 610041, Sichuan, Peoples R China Sichuan Univ, W China Hosp, Dept Neurol, Chengdu 610041, Sichuan, Peoples R ChinaChen, Ke论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, W China Hosp, Dept Neurol, Chengdu 610041, Sichuan, Peoples R China Sichuan Univ, W China Hosp, Dept Neurol, Chengdu 610041, Sichuan, Peoples R ChinaPan, PingLei论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, W China Hosp, Dept Neurol, Chengdu 610041, Sichuan, Peoples R China Sichuan Univ, W China Hosp, Dept Neurol, Chengdu 610041, Sichuan, Peoples R ChinaYang, Yuan论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, W China Hosp, Dept Med Genet, Chengdu 610041, Sichuan, Peoples R China Sichuan Univ, W China Hosp, Dept Neurol, Chengdu 610041, Sichuan, Peoples R ChinaShang, Hui-Fang论文数: 0 引用数: 0 h-index: 0机构: Sichuan Univ, W China Hosp, Dept Neurol, Chengdu 610041, Sichuan, Peoples R China Sichuan Univ, W China Hosp, Dept Neurol, Chengdu 610041, Sichuan, Peoples R China
- [7] 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
- [8] Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening studyLANCET NEUROLOGY, 2009, 8 (05): : 441 - 446Bressman, Susan B.论文数: 0 引用数: 0 h-index: 0机构: Beth Israel Deaconess Med Ctr, Alan & Barbara Mirken Dept Neurol, Dept Neurol, New York, NY 10003 USA Albert Einstein Coll Med, Dept Neurol, New York, NY USA Beth Israel Deaconess Med Ctr, Alan & Barbara Mirken Dept Neurol, Dept Neurol, New York, NY 10003 USARaymond, Deborah论文数: 0 引用数: 0 h-index: 0机构: Beth Israel Deaconess Med Ctr, Alan & Barbara Mirken Dept Neurol, Dept Neurol, New York, NY 10003 USAFuchs, Tania论文数: 0 引用数: 0 h-index: 0机构: Mt Sinai Sch Med, Dept Genet & Genom Sci, New York, NY USA Beth Israel Deaconess Med Ctr, Alan & Barbara Mirken Dept Neurol, Dept Neurol, New York, NY 10003 USAHeiman, Gary A.论文数: 0 引用数: 0 h-index: 0机构: Rutgers State Univ, Dept Genet, Piscataway, NJ USA Beth Israel Deaconess Med Ctr, Alan & Barbara Mirken Dept Neurol, Dept Neurol, New York, NY 10003 USAOzelius, Laurie论文数: 0 引用数: 0 h-index: 0机构: Mt Sinai Sch Med, Dept Genet & Genom Sci, New York, NY USA Mt Sinai Sch Med, Dept Neurol, New York, NY USA Beth Israel Deaconess Med Ctr, Alan & Barbara Mirken Dept Neurol, Dept Neurol, New York, NY 10003 USASaunders-Pullman, Rachel论文数: 0 引用数: 0 h-index: 0机构: Albert Einstein Coll Med, Dept Neurol, New York, NY USA Beth Israel Deaconess Med Ctr, Alan & Barbara Mirken Dept Neurol, Dept Neurol, New York, NY 10003 USA
- [9] Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotypeNEUROGENETICS, 2011, 12 (01) : 87 - 89Clot, Fabienne论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, F-75634 Paris, France Grp Hosp Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, F-75634 Paris, FranceGrabli, David论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 06, CRICM INSERM UMRS975, CNRS UMR 7225, Paris, France Grp Hosp Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, F-75634 Paris, FranceBurbaud, Pierre论文数: 0 引用数: 0 h-index: 0机构: CHU Bordeaux, Serv Neurophysiol Clin, Bordeaux, France Grp Hosp Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, F-75634 Paris, FranceAya, Magali论文数: 0 引用数: 0 h-index: 0机构: CHU Grenoble, Serv Neurol, F-38043 Grenoble, France Grp Hosp Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, F-75634 Paris, FranceDerkinderen, Pascal论文数: 0 引用数: 0 h-index: 0机构: CHU Nantes, CIC0004, INSERM, F-44035 Nantes 01, France Grp Hosp Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, F-75634 Paris, FranceDefebvre, Luc论文数: 0 引用数: 0 h-index: 0机构: CHU Lille, CNRS FRE 3291, Serv Neurol, F-59037 Lille, France Grp Hosp Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, F-75634 Paris, FranceDamier, Philippe论文数: 0 引用数: 0 h-index: 0机构: CHU Nantes, CIC0004, INSERM, F-44035 Nantes 01, France Grp Hosp Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, F-75634 Paris, FranceKrystkowiak, Pierre论文数: 0 引用数: 0 h-index: 0机构: CHU Amiens, CNRS FRE 3291, Serv Neurol, Amiens, France Grp Hosp Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, F-75634 Paris, FrancePollak, Pierre论文数: 0 引用数: 0 h-index: 0机构: CHU Grenoble, Serv Neurol, F-38043 Grenoble, France Grp Hosp Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, F-75634 Paris, FranceLeguern, Eric论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, F-75634 Paris, France Grp Hosp Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, F-75634 Paris, FranceSan, Chan论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, F-75634 Paris, France Grp Hosp Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, F-75634 Paris, FranceCamuzat, Agnes论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 06, CRICM INSERM UMRS975, CNRS UMR 7225, Paris, France Grp Hosp Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, F-75634 Paris, FranceRoze, Emmanuel论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 06, CRICM INSERM UMRS975, CNRS UMR 7225, Paris, France Grp Hosp Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, F-75634 Paris, FranceVidailhet, Marie论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 06, CRICM INSERM UMRS975, CNRS UMR 7225, Paris, France Grp Hosp Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, F-75634 Paris, FranceDurr, Alexandra论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, F-75634 Paris, France Univ Paris 06, CRICM INSERM UMRS975, CNRS UMR 7225, Paris, France Grp Hosp Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, F-75634 Paris, FranceBrice, Alexis论文数: 0 引用数: 0 h-index: 0机构: Grp Hosp Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, F-75634 Paris, France Univ Paris 06, CRICM INSERM UMRS975, CNRS UMR 7225, Paris, France Grp Hosp Pitie Salpetriere, AP HP, Dept Genet & Cytogenet, F-75634 Paris, France
- [10] Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotypeneurogenetics, 2011, 12 : 87 - 89Fabienne Clot论文数: 0 引用数: 0 h-index: 0机构: AP-HP,Département de Génétique et CytogénétiqueDavid Grabli论文数: 0 引用数: 0 h-index: 0机构: AP-HP,Département de Génétique et CytogénétiquePierre Burbaud论文数: 0 引用数: 0 h-index: 0机构: AP-HP,Département de Génétique et CytogénétiqueMagali Aya论文数: 0 引用数: 0 h-index: 0机构: AP-HP,Département de Génétique et CytogénétiquePascal Derkinderen论文数: 0 引用数: 0 h-index: 0机构: AP-HP,Département de Génétique et CytogénétiqueLuc Defebvre论文数: 0 引用数: 0 h-index: 0机构: AP-HP,Département de Génétique et CytogénétiquePhilippe Damier论文数: 0 引用数: 0 h-index: 0机构: AP-HP,Département de Génétique et CytogénétiquePierre Krystkowiak论文数: 0 引用数: 0 h-index: 0机构: AP-HP,Département de Génétique et CytogénétiquePierre Pollak论文数: 0 引用数: 0 h-index: 0机构: AP-HP,Département de Génétique et CytogénétiqueEric Leguern论文数: 0 引用数: 0 h-index: 0机构: AP-HP,Département de Génétique et CytogénétiqueChan San论文数: 0 引用数: 0 h-index: 0机构: AP-HP,Département de Génétique et CytogénétiqueAgnès Camuzat论文数: 0 引用数: 0 h-index: 0机构: AP-HP,Département de Génétique et CytogénétiqueEmmanuel Roze论文数: 0 引用数: 0 h-index: 0机构: AP-HP,Département de Génétique et CytogénétiqueMarie Vidailhet论文数: 0 引用数: 0 h-index: 0机构: AP-HP,Département de Génétique et CytogénétiqueAlexandra Durr论文数: 0 引用数: 0 h-index: 0机构: AP-HP,Département de Génétique et CytogénétiqueAlexis Brice论文数: 0 引用数: 0 h-index: 0机构: AP-HP,Département de Génétique et Cytogénétique