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Select item 17365351.

Primary torsion dystonia: the search for genes is not over

P Jarman, N del Grosso, E Valente, B Leube, E Cassetta, A Bentivoglio, H Waddy, R Uitti, D Maraganore, A Albanese, M Frontali, G Auburger, S Bressman, N Wood, T Nygaard

J Neurol Neurosurg Psychiatry. 1999 Sep; 67(3): 395–397. doi: 10.1136/jnnp.67.3.395

PMCID:: PMC1736535

Summary PDF–67K

Select item 20956292.

Effect of electrode contact location on clinical efficacy of pallidal deep brain stimulation in primary generalised dystonia

S Tisch, L Zrinzo, P Limousin, K P Bhatia, N Quinn, K Ashkan, M Hariz

J Neurol Neurosurg Psychiatry. 2007 Dec; 78(12): 1314–1319. Published online 2007 Apr 18. doi: 10.1136/jnnp.2006.109694

PMCID:: PMC2095629

Abstract Article PDF–324K

Select item 20839073.

Deep brain stimulation in childhood: an effective treatment for early onset idiopathic generalised dystonia

Jeremy R Parr, Alex L Green, Carole Joint, Morag Andrew, Ralph P Gregory, Richard B Scott, Michael A McShane, Tipu Z Aziz

Arch Dis Child. 2007 Aug; 92(8): 708–711. Published online 2007 Apr 25. doi: 10.1136/adc.2006.095380

PMCID:: PMC2083907

Abstract Article PDF–111K

Select item 19183964.

The DYT1 Gene on 9q34 Is Responsible for Most Cases of Early Limb-Onset Idiopathic Torsion Dystonia in Non-Jews

P. L. Kramer, G. A. Heiman, T. Gasser, L. J. Ozelius, D. de Leon, M. F. Brin, R. E. Burke, J. Hewett, A. L. Hunt, C. Moskowitz, T. G. Nygaard, K. C. Wilhelmsen, S. Fahn, X. O. Breakefield, N. J. Risch, S. B. Bressman

Am J Hum Genet. 1994 Sep; 55(3): 468–475.

PMCID:: PMC1918396

Summary Page Browse PDF–1.0M

Select item 40074625.

The BiP Molecular Chaperone Plays Multiple Roles during the Biogenesis of TorsinA, an AAA⁺ ATPase Associated with the Neurological Disease Early-onset Torsion Dystonia

Lucía F. Zacchi, Hui-Chuan Wu, Samantha L. Bell, Linda Millen, Adrienne W. Paton, James C. Paton, Philip J. Thomas, Michal Zolkiewski, Jeffrey L. Brodsky

J Biol Chem. 2014 May 2; 289(18): 12727–12747. Published online 2014 Mar 13. doi: 10.1074/jbc.M113.529123

PMCID:: PMC4007462

Abstract Article PDF–2.4M

Select item 18671066.

Intragenic Cis and Trans Modification of Genetic Susceptibility in DYT1 Torsion Dystonia

Neil J. Risch, Susan B. Bressman, Geetha Senthil, Laurie J. Ozelius

Am J Hum Genet. 2007 Jun; 80(6): 1188–1193. Published online 2007 Apr 27. doi: 10.1086/518427

PMCID:: PMC1867106

Abstract Article PDF–110K

Select item 39629907.

ALS2 mutations: Juvenile amyotrophic lateral sclerosis and generalized dystonia

Una-Marie Sheerin, Susanne A. Schneider, Lucinda Carr, Guenther Deuschl, Franziska Hopfner, Maria Stamelou, Nicholas W. Wood, Kailash P. Bhatia

Neurology. 2014 Mar 25; 82(12): 1065–1067. doi: 10.1212/WNL.0000000000000254

PMCID:: PMC3962990

Abstract Article PDF–182K

Select item 17382128.

Childhood onset generalised dystonia can be modelled by increased gain in the indirect basal ganglia pathway

T Sanger

J Neurol Neurosurg Psychiatry. 2003 Nov; 74(11): 1509–1515. doi: 10.1136/jnnp.74.11.1509

PMCID:: PMC1738212

Summary PDF–430K

Select item 69068659.

Successful Pallidal Deep Brain Stimulation Treatment in a Case of Generalized Dystonia due to a Novel ANO3 Mutation

Lizl Lasky, Lindsay Bliss, Christos Sidiropoulos

Case Rep Neurol Med. 2019; 2019: 3154653. Published online 2019 Nov 29. doi: 10.1155/2019/3154653

PMCID:: PMC6906865

Abstract Article PDF–194K

Select item 692539310.

Generalized Dystonia and Paroxysmal Dystonic Attacks due to a Novel ATP1A3 Variant

Carlos Zúñiga-Ramírez, Mirelle Kramis-Hollands, Rodrigo Mercado-Pimentel, Héctor Alberto González-Usigli, Michel Sáenz-Farret, Alberto Soto-Escageda, Alfonso Fasano

Tremor Other Hyperkinet Mov (N Y) 2019; 9: 10.7916/tohm.v0.723. Published online 2019 Dec 13. doi: 10.7916/tohm.v0.723

PMCID:: PMC6925393

Abstract Article PDF–1.5M

Select item 301289211.

IDIOPATHIC TORSION DYSTONIA WITH SCHIZOPHRENIA IN FIRST DEGREE RELATIVES : A CASE REPORT

S.M. Channabasavanna, Utpal Goswami, H.S. Venkatesh, N. Pradhan

Indian J Psychiatry. 1982 Jan-Mar; 24(1): 92–94.

PMCID:: PMC3012892

Summary PDF–129K

Select item 707790612.

Functional and Structural Connectivity Patterns Associated with Clinical Outcomes in Deep Brain Stimulation of the Globus Pallidus Internus for Generalized Dystonia

L. Okromelidze, T. Tsuboi, R.S. Eisinger, M.R. Burns, M. Charbel, M. Rana, S.S. Grewal, C.-Q. Lu, L. Almeida, K.D. Foote, M.S. Okun, E.H. Middlebrooks

AJNR Am J Neuroradiol. 2020 Mar; 41(3): 508–514. doi: 10.3174/ajnr.A6429

PMCID:: PMC7077906

Abstract Article PDF–1.7M

Select item 715661313.

Non-motor Symptoms in Chinese Patients With Isolated Generalized Dystonia: A Case–Control Study

Shanglin Li, Lin Wang, Yingmai Yang, Lei Qiao, Dingding Zhang, Xinhua Wan

Front Neurol. 2020; 11: 209. Published online 2020 Apr 8. doi: 10.3389/fneur.2020.00209

PMCID:: PMC7156613

Abstract Article PDF–306K

Select item 169354714.

Early onset torsion dystonia (Oppenheim's dystonia)

Christoph Kamm

Orphanet J Rare Dis. 2006; 1: 48. Published online 2006 Nov 27. doi: 10.1186/1750-1172-1-48

PMCID:: PMC1693547

Abstract Article PDF–297K

Select item 168427415.

Strong allelic association between the torsion dystonia gene (DYT1) and loci on chromosome 9q34 in Ashkenazi Jews

Laurie J. Ozelius, Patricia L. Kramer, Deborah de Leon, Neil Risch, Susan B. Bressman, Deborah E. Schuback, Mitchell F. Brin, David J. Kwiatkowski, Robert E. Burke, James F. Gusella, Stanley Fahn, Xandra O. Breakefield

Am J Hum Genet. 1992 Mar; 50(3): 619–628.

PMCID:: PMC1684274

Summary Page Browse PDF–1.6M

Select item 168363416.

Segregation analysis of idiopathic torsion dystonia in Ashkenazi Jews suggests autosomal dominant inheritance.

N J Risch, S B Bressman, D deLeon, M F Brin, R E Burke, P E Greene, H Shale, E B Claus, L A Cupples, S Fahn

Am J Hum Genet. 1990 Mar; 46(3): 533–538.

PMCID:: PMC1683634

Summary Page Browse PDF–962K

Select item 168330317.

Torsion dystonia genes in two populations confined to a small region on chromosome 9q32-34.

D J Kwiatkowski, L Ozelius, P L Kramer, S Perman, D E Schuback, J F Gusella, S Fahn, X O Breakefield

Am J Hum Genet. 1991 Aug; 49(2): 366–371.

PMCID:: PMC1683303

Summary Page Browse PDF–794K

Select item 307373918.

Genetic and clinical features of primary torsion dystonia

Laurie J. Ozelius, Susan B. Bressman

Neurobiol Dis. Author manuscript; available in PMC 2012 May 1.

Published in final edited form as: Neurobiol Dis. 2011 May; 42(2): 127–135. Published online 2010 Dec 17. doi: 10.1016/j.nbd.2010.12.012

PMCID:: PMC3073739

Abstract Article PDF–89K

Select item 766822819.

Generalized Dystonia Treated With Deep Brain Stimulator: An Institutional Single Surgeon Experience

Hammad Ghanchi, Jacob E Bernstein, Taha M Taka, Tye Patchana, Samir Kashyap, Omid R Hariri, Ali O Jamshidi, Ajay K Ananda

Cureus. 2020 Oct; 12(10): e10992. Published online 2020 Oct 16. doi: 10.7759/cureus.10992

PMCID:: PMC7668228

Abstract Article PDF–429K

Select item 389519220.

Pallidal stimulation for primary generalised dystonia: effect on cognition, mood and quality of life

Marjan Jahanshahi, Mariam Torkamani, Mazda Beigi, Leonora Wilkinson, Donna Page, Laura Madeley, Kailash Bhatia, Marwan Hariz, Ludvic Zrinzo, Patricia Limousin, Diane Ruge, Stephen Tisch

J Neurol. 2014; 261(1): 164–173. Published online 2013 Nov 1. doi: 10.1007/s00415-013-7161-2