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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

Article PDF–221K

Select item 49306703.

Investigation of the G protein subunit Gα_olf gene (GNAL) in attention deficit/hyperactivity disorder

Nancy Laurin, Abel Ickowicz, Tejaswee Pathare, Molly Malone, Rosemary Tannock, Russell Schachar, James L. Kennedy, Cathy L. Barr

J Psychiatr Res. Author manuscript; available in PMC 2016 Jul 2.

Published in final edited form as: J Psychiatr Res. 2008 Jan; 42(2): 117–124. Published online 2006 Dec 12. doi: 10.1016/j.jpsychires.2006.10.010

PMCID:: PMC4930670

Article PDF–474K

Select item 48282534.

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

Article PDF–408K

Select item 42370205.

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

Article PDF–380K

Select item 42352466.

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 36581697.

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

Article PDF–951K

Select item 35306208.

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

Article PDF–1.1M

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

Article PDF–479K

Select item 376641810.

Drug-gene interactions and the search for missing heritability: a cross-sectional pharmacogenomics study of the QT interval

Christy L. Avery, Colleen M. Sitlani, Dan E. Arking, Donna K. Arnett, Joshua C. Bis, Eric Boerwinkle, Brendan M. Buckley, Y.-D. Ida Chen, Anton JM de Craen, Mark Eijgelsheim, Daniel Enquobahrie, Daniel S. Evans, Ian Ford, Melissa E. Garcia, Vilmundur Gudnason, Tamara B. Harris, Susan R. Heckbert, Hagit Hochner, Albert Hofman, Wen-Chi Hsueh, Aaron Isaacs, J. Wouter Jukema, Paul Knekt, Jan A. Kors, Bouwe P. Krijthe, Kati Kristiansson, Maarit Laaksonen, Yongmei Liu, Xiaohui Li, Peter W. MacFarlane, Christopher Newton-Cheh, Markku S. Nieminen, Ben A. Oostra, Gina M. Peloso, Kimmo Porthan, Kenneth Rice, Fernando F. Rivadeneira, Jerome I. Rotter, Veikko Salomaa, Naveed Sattar, David S. Siscovick, P. Eline Slagboom, Albert V. Smith, Nona Sotoodehnia, David J. Stott, Bruno H. Stricker, Til Stürmer, Stella Trompet, Andre G. Uitterlinden, Cornelia M. van Duijn, Rudi GJ Westendorp, Jacqueline C. Witteman, Eric A. Whitsel, Bruce M. Psaty

Pharmacogenomics J. Author manuscript; available in PMC 2014 Aug 1.

Published in final edited form as: Pharmacogenomics J. 2014 Feb; 14(1): 6–13. Published online 2013 Mar 5. doi: 10.1038/tpj.2013.4

PMCID:: PMC3766418

Article PDF–695K

Select item 4491011.

Mechanism of GTP hydrolysis by G-protein alpha subunits.

C Kleuss, A S Raw, E Lee, S R Sprang, A G Gilman

Proc Natl Acad Sci U S A. 1994 Oct 11; 91(21): 9828–9831. doi: 10.1073/pnas.91.21.9828

PMCID:: PMC44910

Summary Page Browse PDF–925K

Select item 982313112.

Flotillin-2 regulates epidermal growth factor receptor activation, degradation by Cbl-mediated ubiquitination, and cancer growth

David J. Wisniewski, Mariya S. Liyasova, Soumya Korrapati, Xu Zhang, Shashikala Ratnayake, Qingrong Chen, Samuel F. Gilbert, Alexis Catalano, Donna Voeller, Daoud Meerzaman, Udayan Guha, Natalie Porat-Shliom, Christina M. Annunziata, Stanley Lipkowitz

J Biol Chem. 2023 Jan; 299(1): 102766. Published online 2022 Dec 5. doi: 10.1016/j.jbc.2022.102766

PMCID:: PMC9823131

Article PDF–2.5M

Select item 998681713.

METTL3 protects METTL14 from STUB1‐mediated degradation to maintain m⁶A homeostasis

Zhan‐Cheng Zeng, Qi Pan, Yu‐Meng Sun, Heng‐Jing Huang, Xiao‐Tong Chen, Tian‐Qi Chen, Bo He, Hua Ye, Shun‐Xin Zhu, Ke‐Jia Pu, Ke Fang, Wei Huang, Yue‐Qin Chen, Wen‐Tao Wang

EMBO Rep. 2023 Mar; 24(3): e55762. Published online 2023 Jan 4. doi: 10.15252/embr.202255762

PMCID:: PMC9986817

Article PDF–3.5M

Select item 997863514.

Fibril treatment changes protein interactions of tau and α-synuclein in human neurons

Tagan A. Griffin, Paul D. Schnier, Elisa M. Cleveland, Robert W. Newberry, Julia Becker, George A. Carlson

J Biol Chem. 2023 Mar; 299(3): 102888. Published online 2023 Jan 10. doi: 10.1016/j.jbc.2023.102888

PMCID:: PMC9978635

Article PDF–10M

Select item 933831315.

HSF1 phosphorylation establishes an active chromatin state via the TRRAP–TIP60 complex and promotes tumorigenesis

Mitsuaki Fujimoto, Ryosuke Takii, Masaki Matsumoto, Mariko Okada, Keiich I. Nakayama, Ryuichiro Nakato, Katsunori Fujiki, Katsuhiko Shirahige, Akira Nakai

Nat Commun. 2022; 13: 4355. Published online 2022 Jul 29. doi: 10.1038/s41467-022-32034-4

PMCID:: PMC9338313

Article PDF–2.8M

Select item 271642216.

Defining the Human Deubiquitinating Enzyme Interaction Landscape

Mathew E. Sowa, Eric J. Bennett, Steven P. Gygi, J. Wade Harper

Cell. Author manuscript; available in PMC 2010 Jul 23.

Published in final edited form as: Cell. 2009 Jul 23; 138(2): 389–403. Published online 2009 Jul 16. doi: 10.1016/j.cell.2009.04.042

PMCID:: PMC2716422

Article PDF–6.1M

Select item 51531617.

Sequence Comparison of Human and Mouse Genes Reveals a Homologous Block Structure in the Promoter Regions

Yutaka Suzuki, Riu Yamashita, Matsuyuki Shirota, Yuta Sakakibara, Joe Chiba, Junko Mizushima-Sugano, Kenta Nakai, Sumio Sugano

Genome Res. 2004 Sep; 14(9): 1711–1718. doi: 10.1101/gr.2435604

PMCID:: PMC515316

Article PDF–181K

Select item 298946118.

Systematic Characterization of Human Protein Complexes Identifies Chromosome Segregation Proteins

James R.A. Hutchins, Yusuke Toyoda, Björn Hegemann, Ina Poser, Jean-Karim Hériché, Martina M. Sykora, Martina Augsburg, Otto Hudecz, Bettina A. Buschhorn, Jutta Bulkescher, Christian Conrad, David Comartin, Alexander Schleiffer, Mihail Sarov, Andrei Pozniakovsky, Mikolaj Michal Slabicki, Siegfried Schloissnig, Ines Steinmacher, Marit Leuschner, Andrea Ssykor, Steffen Lawo, Laurence Pelletier, Holger Stark, Kim Nasmyth, Jan Ellenberg, Richard Durbin, Frank Buchholz, Karl Mechtler, Anthony A. Hyman, Jan-Michael Peters

Science. Author manuscript; available in PMC 2010 Nov 22.

Published in final edited form as: Science. 2010 Apr 30; 328(5978): 593–599. Published online 2010 Apr 1. doi: 10.1126/science.1181348

PMCID:: PMC2989461

Article PDF–2.2M

Select item 464794119.

hORFeome v3.1: A resource of human open reading frames representing over 10,000 human genes

Philippe Lamesch, Ning Li, Stuart Milstein, Changyu Fan, Tong Hao, Gabor Szabo, Zhenjun Hu, Kavitha Venkatesan, Graeme Bethel, Paul Martin, Jane Rogers, Stephanie Lawlor, Stuart McLaren, Amélie Dricot, Heather Borick, Michael E. Cusick, Jean Vandenhaute, Ian Dunham, David E. Hill, Marc Vidal

Genomics. 2007 Mar; 89(3): 307–315. doi: 10.1016/j.ygeno.2006.11.012

PMCID:: PMC4647941

Article

Select item 910523520.

Cullin 3 Exon 9 Deletion in Familial Hyperkalemic Hypertension Impairs Cullin3-Ring-E3 Ligase (CRL3) Dynamic Regulation and Cycling

Ilektra Kouranti, Waed Abdel Khalek, Stephani Mazurkiewicz, Irmine Loisel-Ferreira, Alexis M. Gautreau, Lionel Pintard, Xavier Jeunemaitre, Eric Clauser

Int J Mol Sci. 2022 May; 23(9): 5151. Published online 2022 May 5. doi: 10.3390/ijms23095151

PMCID:: PMC9105235

Article PDF–5.8M

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