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Select item 23302521.

Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1 redefining DYT14 as DYT5

C. Wider, S. Melquist, M. Hauf, A. Solida, S.A. Cobb, J.M. Kachergus, J. Gass, K.D. Coon, M. Baker, A. Cannon, D.A. Stephan, D.F. Schorderet, J. Ghika, P.R. Burkhard, G. Kapatos, M. Hutton, M.J. Farrer, Z.K. Wszolek, F.J.G. Vingerhoets

Neurology. Author manuscript; available in PMC 2008 Apr 24.

Published in final edited form as: Neurology. 2008 Apr 15; 70(16 Pt 2): 1377–1383. Published online 2007 Sep 5. doi: 10.1212/01.wnl.0000275527.35752.c5

PMCID:: PMC2330252

Abstract Article PDF–947K

Select item 31921632.

dtorsin, the Drosophila Ortholog of the Early-Onset Dystonia TOR1A (DYT1), Plays a Novel Role in Dopamine Metabolism

Noriko Wakabayashi-Ito, Olugbenga M. Doherty, Hideaki Moriyama, Xandra O. Breakefield, James F. Gusella, Janis M. O'Donnell, Naoto Ito

PLoS One. 2011; 6(10): e26183. Published online 2011 Oct 12. doi: 10.1371/journal.pone.0026183

Correction in:: PLoS One. 2011; 6(10): 10.1371/annotation/b76ab6b8-32c7-4f47-9ec9-9f302c9507f9.

PMCID:: PMC3192163

Abstract Article PDF–1002K

Select item 67144883.

Naming Genes for Dystonia: DYT-z or Ditzy?

Niccolo E. Mencacci, H. A. Jinnah

Tremor Other Hyperkinet Mov (N Y) 2019; 9: 10.7916/tohm.v0.710. Published online 2019 Aug 28. doi: 10.7916/tohm.v0.710

PMCID:: PMC6714488

Abstract Article PDF–865K

Select item 36920364.

The genetics of dystonia: new twists in an old tale

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

Brain. 2013 Jul; 136(7): 2017–2037. Published online 2013 Jun 17. doi: 10.1093/brain/awt138

PMCID:: PMC3692036

Abstract Article PDF–640K

Select item 64209085.

Neuropathology of Dystonia

Nutan Sharma

Tremor Other Hyperkinet Mov (N Y) 2019; 9: 569. Published online 2019 Feb 25. doi: 10.7916/d8-j6sx-b156

PMCID:: PMC6420908

Abstract Article PDF–674K

Select item 35724256.

Neuropathological Diagnostic Considerations in Hyperkinetic Movement Disorders

Wilfred F. A. den Dunnen

Front Neurol. 2013; 4: 7. Published online 2013 Feb 14. doi: 10.3389/fneur.2013.00007

PMCID:: PMC3572425

Abstract Article PDF–1.3M

Select item 48799677.

The Genetics of Dystonias

Mark S. LeDoux

Adv Genet. Author manuscript; available in PMC 2016 May 25.

Published in final edited form as: Adv Genet. 2012; 79: 35–85. doi: 10.1016/B978-0-12-394395-8.00002-5

PMCID:: PMC4879967

Abstract Article PDF–374K

Select item 33103118.

Fixing the broken system of genetic locus symbols: Parkinson disease and dystonia as examples

Connie Marras, Katja Lohmann, Anthony Lang, Christine Klein

Neurology. 2012 Mar 27; 78(13): 1016–1024. doi: 10.1212/WNL.0b013e31824d58ab

PMCID:: PMC3310311

Abstract Article PDF–350K

Select item 28560839.

Primary dystonia: molecules and mechanisms

Lauren M. Tanabe, Connie E. Kim, Noga Alagem, William T. Dauer

Nat Rev Neurol. Author manuscript; available in PMC 2010 Apr 19.

Published in final edited form as: Nat Rev Neurol. 2009 Nov; 5(11): 598–609. Published online 2009 Oct 13. doi: 10.1038/nrneurol.2009.160

PMCID:: PMC2856083

Abstract Article PDF–1.3M

Select item 389947310.

Treatment of Dystonia

Mary Ann Thenganatt, Joseph Jankovic

Neurotherapeutics. 2014 Jan; 11(1): 139–152. Published online 2013 Oct 19. doi: 10.1007/s13311-013-0231-4

PMCID:: PMC3899473

Abstract Article PDF–321K

Select item 995472011.

Pathogenic Aspects and Therapeutic Avenues of Autophagy in Parkinson’s Disease

Rémi Kinet, Benjamin Dehay

Cells. 2023 Feb; 12(4): 621. Published online 2023 Feb 15. doi: 10.3390/cells12040621

PMCID:: PMC9954720

Abstract Article PDF–7.3M

Select item 596340112.

Parkinsonism in GTP cyclohydrolase 1 mutation carriers

Ilaria Guella, Holly E. Sherman, Silke Appel-Cresswell, Alex Rajput, Ali H. Rajput, Matthew J. Farrer

Brain. 2015 May; 138(5): e349. Published online 2014 Dec 13. doi: 10.1093/brain/awu341

PMCID:: PMC5963401

Article PDF–150K

Select item 508412413.

The treatment of movement disorders by deep brain stimulation

Hong Yu, Joseph S. Neimat

Neurotherapeutics. 2008 Jan; 5(1): 26–36. doi: 10.1016/j.nurt.2007.10.072

PMCID:: PMC5084124

Abstract Article PDF–2.6M

Select item 633637714.

Genetic Subtypes and Deep Brain Stimulation in Dystonia

Ron L. Alterman, Aristotelis S. Filippidis

Mov Disord Clin Pract. 2018 Jul-Aug; 5(4): 357–360. Published online 2018 Aug 11. doi: 10.1002/mdc3.12660

PMCID:: PMC6336377

Article PDF–154K

Select item 572643015.

Neuropathology of Genetic Synucleinopathies with Parkinsonism – review of the literature

Susanne A Schneider, Roy N. Alcalay

Mov Disord. Author manuscript; available in PMC 2018 Nov 1.

Published in final edited form as: Mov Disord. 2017 Nov; 32(11): 1504–1523. doi: 10.1002/mds.27193

PMCID:: PMC5726430

Abstract Article PDF–476K

Select item 402766116.

Genetics of Parkinson’s Disease - A Clinical Perspective

Sang-Myung Cheon, Lilian Chan, Daniel Kam Yin Chan, Jae Woo Kim

J Mov Disord. 2012 Oct; 5(2): 33–41. Published online 2012 Oct 30. doi: 10.14802/jmd.12009

PMCID:: PMC4027661

Abstract Article PDF–465K

Select item 252794917.

Differential involvement of striosome and matrix dopamine systems in a transgenic model of dopa-responsive dystonia

Kenta Sato, Chiho Sumi-Ichinose, Ryuji Kaji, Kazuhisa Ikemoto, Takahide Nomura, Ikuko Nagatsu, Hiroshi Ichinose, Masayuki Ito, Wataru Sako, Shinji Nagahiro, Ann M. Graybiel, Satoshi Goto

Proc Natl Acad Sci U S A. 2008 Aug 26; 105(34): 12551–12556. Published online 2008 Aug 19. doi: 10.1073/pnas.0806065105