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1.

Role of Gα(olf) in familial and sporadic adult-onset primary dystonia.

Vemula, Satya R; Puschmann, Andreas; Xiao, Jianfeng; Zhao, Yu; Rudzinska, Monika; Frei, Karen P; Truong, Daniel D; Wszolek, Zbigniew K; LeDoux, Mark S.

Hum Mol Genet; 22(12): 2510-9, 2013 Jun 15.

Artículo en Inglés | MEDLINE | ID: mdl-23449625

2.

The c.-237_236GA>TT THAP1 sequence variant does not increase risk for primary dystonia.

Xiao, Jianfeng; Zhao, Yu; Bastian, Robert W; Perlmutter, Joel S; Racette, Brad A; Tabbal, Samer D; Karimi, Morvarid; Paniello, Randal C; Wszolek, Zbigniew K; Uitti, Ryan J; Van Gerpen, Jay A; Simon, David K; Tarsy, Daniel; Hedera, Peter; Truong, Daniel D; Frei, Karen P; Blitzer, Andrew; Rudzinska, Monika; Pfeiffer, Ronald F; Le, Carrie; LeDoux, Mark S.

Mov Disord; 26(3): 549-52, 2011 Feb 15.

Artículo en Inglés | MEDLINE | ID: mdl-21370264

3.

Expanding phenomenologic heterogeneity of tardive syndromes: Time for an updated assessment tool.

Bhidayasiri, Roongroj; Kane, John M; Frei, Karen P; Caroff, Stanley N; Correll, Christoph U; Fahn, Stanley; Jankovic, Joseph; Hauser, Robert A; Truong, Daniel D.

Parkinsonism Relat Disord; 77: 141-145, 2020 08.

Artículo en Inglés | MEDLINE | ID: mdl-32823151

4.

High-throughput mutational analysis of TOR1A in primary dystonia.

Xiao, Jianfeng; 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; Gong, Suzhen; Zhao, Yu; LeDoux, Mark S.

BMC Med Genet; 10: 24, 2009 Mar 11.

Artículo en Inglés | MEDLINE | ID: mdl-19284587

5.

Molecular defects of the dystonia-causing torsinA mutation.

Pham, Phuong; Frei, Karen P; Woo, William; Truong, Daniel D.

Neuroreport; 17(16): 1725-8, 2006 Nov 06.

Artículo en Inglés | MEDLINE | ID: mdl-17047461

6.

Novel human pathological mutations. Gene symbol: THAP1. Disease: dystonia 6.

Xiao, Jianfeng; Zhao, Y; Bastian, Robert W; Perlmutter, Joel S; Racette, Brad A; Tabbal, Samer D; Karimi, Morvarid; Paniello, Randal; Blitzer, Andrew; Batish, Sat Dev; Wszolek, Zbigniew K; Uitti, Ryan J; Van Gerpen, Jay A; Hedera, Peter; Simon, David K; Tarsy, Daniel; Truong, Daniel D; Frei, Karen P; Pfeiffer, Ronald F; Gong, Suzhen; LeDoux, Mark S.

Hum Genet; 127(4): 470, 2010 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-21488252

7.

Novel human pathological mutations. Gene symbol: THAP1. Disease: dystonia 6.

Xiao, Jianfeng; Zhao, Yu; Bastian, Robert W; Perlmutter, Joel S; Racette, Brad A; Tabbal, Samer D; Karimi, Morvarid; Paniello, Randal; Blitzer, Andrew; Batish, Sat Dev; Wszolek, Zbigniew K; Uitti, Ryan J; Van Gerpen, Jay A; Hedera, Peter; Simon, David K; Tarsy, Daniel; Truong, Daniel D; Frei, Karen P; Pfeiffer, Ronald F; Gong, Suzhen; LeDoux, Mark S.

Hum Genet; 127(4): 469, 2010 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-21488277

8.

Novel human pathological mutations. Gene symbol: THAP1. Disease: dystonia 6.

Xiao, Jianfeng; Zhao, Yu; Bastian, Robert W; Perlmutter, Joel S; Racette, Brad A; Tabbal, Samer D; Karimi, Morvarid; Paniello, Randal; Blitzer, Andrew; Batish, Sat Dev; Wszolek, Zbigniew K; Uitti, Ryan J; Van Gerpen, Jay A; Hedera, Peter; Simon, David K; Tarsy, Daniel; Truong, Daniel D; Frei, Karen P; Pfeiffer, Ronald F; Gong, Suzhen; LeDoux, Mark S.

Hum Genet; 127(4): 469-70, 2010 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-21488296

9.

Novel human pathological mutations. Gene symbol: THAP1. Disease: dystonia 6.

Xiao, Jianfeng; Zhao, Yu; Bastian, Robert W; Perlmutter, Joel S; Racette, Brad A; Tabbal, Samer D; Karimi, Morvarid; Paniello, Randal; Blitzer, Andrew; Batish, Sat Dev; Wszolek, Zbigniew K; Uitti, Ryan J; Van Gerpen, Jay A; Hedera, Peter; Simon, David K; Tarsy, Daniel; Truong, Daniel D; Frei, Karen P; Pfeiffer, Ronald F; Gong, Suzhen; LeDoux, Mark S.

Hum Genet; 127(4): 470, 2010 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-21488297

10.

Novel human pathological mutations. Gene symbol: THAP1. Disease: dystonia 6.

Xiao, Jianfeng; Bastian, Robert W; Perlmutter, Joel S; Racette, Brad A; Tabbal, Samer D; Karimi, Morvarid; Paniello, Randal; Blitzer, Andrew; Batish, Sat Dev; Wszolek, Zbigniew K; Uitti, Ryan J; Van Gerpen, Jay A; Hedera, Peter; Simon, David K; Tarsy, Daniel; Truong, Daniel D; Frei, Karen P; Pfeiffer, Ronald F; Gong, Suzhen; LeDoux, Mark S.

Hum Genet; 127(4): 470, 2010 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-21488298

11.

Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacement.

Moore, David F; Altarescu, Gheona; Ling, Geoffrey S F; Jeffries, Neal; Frei, Karen P; Weibel, Thais; Charria-Ortiz, Gustavo; Ferri, Raymond; Arai, Andrew E; Brady, Roscoe O; Schiffmann, Raphael.

Stroke; 33(2): 525-31, 2002 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-11823664

12.

Myoclonus in Gaucher disease.

Frei, Karen P; Schiffmann, Raphael.

Adv Neurol; 89: 41-8, 2002.

Artículo en Inglés | MEDLINE | ID: mdl-11968465

13.

Natural history of posttraumatic cervical dystonia.

Frei, Karen P; Pathak, Mayank; Jenkins, Stephen; Truong, Daniel D.

Mov Disord; 19(12): 1492-8, 2004 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-15390063

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Role of Gα(olf) in familial and sporadic adult-onset primary dystonia.

The c.-237_236GA>TT THAP1 sequence variant does not increase risk for primary dystonia.

Expanding phenomenologic heterogeneity of tardive syndromes: Time for an updated assessment tool.

High-throughput mutational analysis of TOR1A in primary dystonia.

Molecular defects of the dystonia-causing torsinA mutation.

Novel human pathological mutations. Gene symbol: THAP1. Disease: dystonia 6.

Novel human pathological mutations. Gene symbol: THAP1. Disease: dystonia 6.

Novel human pathological mutations. Gene symbol: THAP1. Disease: dystonia 6.

Novel human pathological mutations. Gene symbol: THAP1. Disease: dystonia 6.

Novel human pathological mutations. Gene symbol: THAP1. Disease: dystonia 6.

Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacement.

Myoclonus in Gaucher disease.

Natural history of posttraumatic cervical dystonia.