PMC Links for Nucleotide (Select 1519315098) - 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 48282533.

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 449104.

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 61744585.

Genetic Identification in Early Onset Parkinsonism among Norwegian Patients

Emil K. Gustavsson, Joanne Trinh, Marna McKenzie, Stephanie Bortnick, Maria Skaalum Petersen, Matthew J. Farrer, Jan O. Aasly

Mov Disord Clin Pract. 2017 Jul-Aug; 4(4): 499–508. Published online 2017 May 23. doi: 10.1002/mdc3.12501

PMCID:: PMC6174458

Abstract Article PDF–357K

Select item 48665766.

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 45359937.

Genome-wide profiling of alternative splicing in Alzheimer's disease

Mitchell K.P. Lai, Margaret M. Esiri, Michelle G.K. Tan

Genom Data. 2014 Dec; 2: 290–292. Published online 2014 Sep 7. doi: 10.1016/j.gdata.2014.09.002

PMCID:: PMC4535993

Abstract Article PDF–523K

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

Abstract Article PDF–1.1M

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