PMC Links for Books (Select 4689004) - PMC

Select item 66599941.

Deep Brain Stimulation in Isolated Dystonia With a GNAL Mutation

Harini Sarva, Richard Trosch, Zelma H.T. Kiss, Sarah Furtado, Marta San Luciano, Amanda Glickman, Deborah Raymond, Laurie J. Ozelius, Susan B. Bressman, Rachel Saunders-Pullman

Mov Disord. Author manuscript; available in PMC 2019 Jul 26.

Published in final edited form as: Mov Disord. 2019 Feb; 34(2): 301–303. Published online 2018 Dec 10. doi: 10.1002/mds.27585

PMCID:: PMC6659994

Article PDF–285K

Select item 49333122.

GNAL mutation in isolated laryngeal dystonia

Gregory G. Putzel, Tania Fuchs, Giovanni Battistella, Estee Rubien-Thomas, Steven J. Frucht, Andrew Blitzer, Laurie J. Ozelius, Kristina Simonyan

Mov Disord. Author manuscript; available in PMC 2017 May 1.

Published in final edited form as: Mov Disord. 2016 May; 31(5): 750–755. Published online 2016 Feb 1. doi: 10.1002/mds.26502

PMCID:: PMC4933312

Abstract Article PDF–221K

Select item 48665763.

Homozygous GNAL mutation associated with familial childhood-onset generalized dystonia

Ikuo Masuho, Mingyan Fang, Chunyu Geng, Jianguo Zhang, Hui Jiang, Riza Köksal Özgul, Didem Yücel Yılmaz, Dilek Yalnızoğlu, Deniz Yüksel, Anna Yarrow, Angela Myers, Sabrina C. Burn, Patricia L. Crotwell, Sergio Padilla-Lopez, Ali Dursun, Kirill A. Martemyanov, Michael C. Kruer

Neurol Genet. 2016 Jun; 2(3): e78. Published online 2016 May 12. doi: 10.1212/NXG.0000000000000078

PMCID:: PMC4866576

Article PDF–380K

Select item 48301994.

Clinical and genetic features of cervical dystonia in a large multicenter cohort

Mark S. LeDoux, Satya R. Vemula, Jianfeng Xiao, Misty M. Thompson, Joel S. Perlmutter, Laura J. Wright, H.A. Jinnah, Ami R. Rosen, Peter Hedera, Cynthia L. Comella, Anne Weissbach, Johanna Junker, Joseph Jankovic, Richard L. Barbano, Stephen G. Reich, Ramon L. Rodriguez, Brian D. Berman, Sylvain Chouinard, Lawrence Severt, Pinky Agarwal, Natividad P. Stover

Neurol Genet. 2016 Jun; 2(3): e69. Published online 2016 Apr 11. doi: 10.1212/NXG.0000000000000069

PMCID:: PMC4830199

Abstract Article PDF–349K

Select item 48282535.

Screening of GNAL variants in Brazilian patients with isolated dystonia reveals a novel mutation with partial loss of function

Camila Oliveira dos Santos, Ikuo Masuho, Francisco Pereira da Silva-Júnior, Egberto Reis Barbosa, Sonia Maria Cesar Azevedo Silva, Vanderci Borges, Henrique Ballalai Ferraz, Maria Sheila Guimarães Rocha, João Carlos Papaterra Limongi, Kirill A. Martemyanov, Patricia de Carvalho Aguiar

J Neurol. Author manuscript; available in PMC 2017 Apr 1.

Published in final edited form as: J Neurol. 2016 Apr; 263(4): 665–668. Published online 2016 Jan 25. doi: 10.1007/s00415-016-8026-2

PMCID:: PMC4828253

Abstract Article PDF–408K

Select item 47319256.

Timing, rates and spectra of human germline mutation

Raheleh Rahbari, Arthur Wuster, Sarah J. Lindsay, Robert J. Hardwick, Ludmil B. Alexandrov, Saeed Al Turki, Anna Dominiczak, Andrew Morris, David Porteous, Blair Smith, Michael R. Stratton, UK10K Consortium, Matthew E. Hurles

Nat Genet. Author manuscript; available in PMC 2016 Jun 14.

Published in final edited form as: Nat Genet. 2016 Feb; 48(2): 126–133. Published online 2015 Dec 14. doi: 10.1038/ng.3469

PMCID:: PMC4731925

Abstract Article PDF–1.6M

Select item 42370207.

Mutations in GNAL: A Novel Cause of Craniocervical Dystonia

Kishore R. Kumar, Katja Lohmann, Ikuo Masuho, Ryosuke Miyamoto, Andreas Ferbert, Thora Lohnau, Meike Kasten, Johann Hagenah, Norbert Brüggemann, Julia Graf, Alexander Münchau, Vladimir S. Kostic, Carolyn M. Sue, Aloysius R. Domingo, Raymond L. Rosales, Lilian V. Lee, Karen Freimann, Ana Westenberger, Youhei Mukai, Toshitaka Kawarai, Ryuji Kaji, Christine Klein, Kirill A. Martemyanov, Alexander Schmidt

JAMA Neurol. Author manuscript; available in PMC 2014 Nov 19.

Published in final edited form as: JAMA Neurol. 2014 Apr; 71(4): 490–494. doi: 10.1001/jamaneurol.2013.4677

PMCID:: PMC4237020

Abstract Article PDF–380K

Select item 42352468.

No pathogenic GNAL mutations in 192 sporadic and familial cases of cervical dystonia

Gavin Charlesworth, Kailash P. Bhatia, Nicholas W. Wood

Mov Disord. Author manuscript; available in PMC 2014 Nov 18.

Published in final edited form as: Mov Disord. 2014 Jan; 29(1): 154–155. Published online 2013 Nov 12. doi: 10.1002/mds.25713

PMCID:: PMC4235246

Article PDF–171K

Select item 40132409.

Heterogeneity in primary dystonia: lessons from THAP1, GNAL and TOR1A in Amish-Mennonites

Rachel Saunders-Pullman, Tania Fuchs, Marta San Luciano, Deborah Raymond, Alison Brashear, Robert Ortega, Andres Deik, Laurie J. Ozelius, Susan B. Bressman

Mov Disord. Author manuscript; available in PMC 2015 May 1.

Published in final edited form as: Mov Disord. 2014 May; 29(6): 812–818. Published online 2014 Feb 5. doi: 10.1002/mds.25818

PMCID:: PMC4013240

Abstract Article PDF–479K

Select item 371275410.

THAP1 (DYT6) mutations in early-onset primary dystonia

Susan B. Bressman, Deborah Raymond, Tania Fuchs, Gary A. Heiman, Laurie J. Ozelius, Rachel Saunders-Pullman

Lancet Neurol. Author manuscript; available in PMC 2013 Jul 16.

Published in final edited form as: Lancet Neurol. 2009 May; 8(5): 441–446. Published online 2009 Apr 1. doi: 10.1016/S1474-4422(09)70081-X

PMCID:: PMC3712754

Abstract Article PDF–614K

Select item 365816911.

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

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

Hum Mol Genet. 2013 Jun 15; 22(12): 2510–2519. Published online 2013 Feb 27. doi: 10.1093/hmg/ddt102

PMCID:: PMC3658169

Abstract Article PDF–951K

Select item 353062012.

Mutations in GNAL cause primary torsion dystonia

Tania Fuchs, Rachel Saunders-Pullman, Ikuo Masuho, Marta San Luciano, Deborah Raymond, Stewart Factor, Anthony E. Lang, Tsao-Wei Liang, Richard M. Trosch, Sierra White, Edmond Ainehsazan, Denis Herve, Nutan Sharma, Michelle E. Ehrlich, Kirill A. Martemyanov, Susan B. Bressman, Laurie J. Ozelius

Nat Genet. Author manuscript; available in PMC 2013 Jul 1.

Published in final edited form as: Nat Genet. 2013 Jan; 45(1): 88–92. Published online 2012 Dec 9. doi: 10.1038/ng.2496

PMCID:: PMC3530620

Abstract Article PDF–1.1M

Select item 333447213.

Mutations in CIZ1 cause adult-onset primary cervical dystonia

Jianfeng Xiao, Ryan J. Uitti, Yu Zhao, Satya R. Vemula, Joel S. Perlmutter, Zbigniew K. Wszolek, Demetrius M. Maraganore, Georg Auburger, Barbara Leube, Katja Lehnhoff, Mark S. LeDoux

Ann Neurol. Author manuscript; available in PMC 2013 Apr 1.

Published in final edited form as: Ann Neurol. 2012 Apr; 71(4): 458–469. Published online 2012 Mar 23. doi: 10.1002/ana.23547

PMCID:: PMC3334472

Abstract Article PDF–1.3M

Select item 280903214.

Novel THAP1 sequence variants in primary dystonia

J Xiao, Y Zhao, R W. Bastian, J S. Perlmutter, B A. Racette, S D. Tabbal, M Karimi, R C. Paniello, Z K. Wszolek, R J. Uitti, J A. Van Gerpen, D K. Simon, D Tarsy, P Hedera, D D. Truong, K P. Frei, S Dev Batish, A Blitzer, R F. Pfeiffer, S Gong, M S. LeDoux

Neurology. 2010 Jan 19; 74(3): 229–238. doi: 10.1212/WNL.0b013e3181ca00ca

PMCID:: PMC2809032

Abstract Article PDF–1.9M

Select item 279434115.

G-protein signaling: back to the future

C. R. McCudden, M. D. Hains, R. J. Kimple, D. P. Siderovski, F. S. Willard

Cell Mol Life Sci. 2005 Mar; 62(5): 551–577. doi: 10.1007/s00018-004-4462-3

PMCID:: PMC2794341

Abstract Article PDF–555K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from Books

Items: 15

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity