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1978 1
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1996 1
1999 2
2000 5
2001 1
2002 1
2003 3
2006 1
2007 1
2010 3
2011 2
2012 2
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2015 1
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43 results

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Page 1
Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome.
Torres RJ, Puig JG. Torres RJ, et al. Orphanet J Rare Dis. 2007 Dec 8;2:48. doi: 10.1186/1750-1172-2-48. Orphanet J Rare Dis. 2007. PMID: 18067674 Free PMC article. Review.
Human HPRT is encoded by a single structural gene on the long arm of the X chromosome at Xq26. To date, more than 300 disease-associated mutations in the HPRT1 gene have been identified. ...The lack of precise understanding of the neurological dysfunction has precluded dev …
Human HPRT is encoded by a single structural gene on the long arm of the X chromosome at Xq26. To date, more than 300 disease-associa …
Focal limb dystonia.
Pont-Sunyer C, Martí MJ, Tolosa E. Pont-Sunyer C, et al. Eur J Neurol. 2010 Jul;17 Suppl 1:22-7. doi: 10.1111/j.1468-1331.2010.03046.x. Eur J Neurol. 2010. PMID: 20590804 Review.
Limb dystonia (LD) refers to dystonia affecting one arm or leg. Depending on the site of onset, age at onset, and the etiology, progression and prognosis will be different. Usually young-onset primary dystonia affects the lower limbs and tends to gener …
Limb dystonia (LD) refers to dystonia affecting one arm or leg. Depending on the site of onset, age at onset, and the e …
Mild parkinsonian features in dystonia: Literature review, mechanisms and clinical perspectives.
Haggstrom L, Darveniza P, Tisch S. Haggstrom L, et al. Parkinsonism Relat Disord. 2017 Feb;35:1-7. doi: 10.1016/j.parkreldis.2016.10.022. Epub 2016 Oct 29. Parkinsonism Relat Disord. 2017. PMID: 27825543 Review.
Clinically, parkinsonian features are a key characteristic of some combined dystonias, including dopa-responsive dystonia, and Parkinson's disease often presents with dystonia. ...However, as the current literature is particularly scant, the present review ai …
Clinically, parkinsonian features are a key characteristic of some combined dystonias, including dopa-responsive dystonia, and …
Dystonia in corticobasal degeneration.
Vanek ZF, Jankovic J. Vanek ZF, et al. Adv Neurol. 2000;82:61-7. Adv Neurol. 2000. PMID: 10624471 Review.
Although a referral bias may have resulted in a higher proportion of atypical cases and consequently an overestimation of dystonia, asymmetric limb dystonia particularly affecting one arm initially was observed in 92% of all our CBD cases. Predominant leg …
Although a referral bias may have resulted in a higher proportion of atypical cases and consequently an overestimation of dystonia, a …
Psychogenic movement disorders.
Hallett M, Weiner WJ, Kompoliti K. Hallett M, et al. Parkinsonism Relat Disord. 2012 Jan;18 Suppl 1:S155-7. doi: 10.1016/S1353-8020(11)70048-7. Parkinsonism Relat Disord. 2012. PMID: 22166419 Review.
Psychogenic movement disorders are common, but the diagnosis may be difficult. Visual appearance alone is typically not sufficient to make a diagnosis, but such information is certainly important. ...Extreme slowness and grunting with great effort may be seen. Improvement …
Psychogenic movement disorders are common, but the diagnosis may be difficult. Visual appearance alone is typically not sufficient to …
Rest tremor in dystonia: epidemiology, differential diagnosis, and pathophysiology.
Gupta N, Pandey S. Gupta N, et al. Neurol Sci. 2020 Sep;41(9):2377-2388. doi: 10.1007/s10072-020-04402-9. Epub 2020 Apr 23. Neurol Sci. 2020. PMID: 32328831 Review.
BACKGROUND: The most common type of tremor reported in dystonia patients is postural and kinetic. There is uncertainty regarding the prevalence of rest tremor in dystonia. ...The most common body distribution is arm, and it tends to be asymmetric. Most of the …
BACKGROUND: The most common type of tremor reported in dystonia patients is postural and kinetic. There is uncertainty regarding the …
Dystonia rating scales: critique and recommendations.
Albanese A, Sorbo FD, Comella C, Jinnah HA, Mink JW, Post B, Vidailhet M, Volkmann J, Warner TT, Leentjens AF, Martinez-Martin P, Stebbins GT, Goetz CG, Schrag A. Albanese A, et al. Mov Disord. 2013 Jun 15;28(7):874-83. doi: 10.1002/mds.25579. Mov Disord. 2013. PMID: 23893443 Free PMC article. Review.
The Movement Disorders Society commissioned this task force to critique existing dystonia rating scales and place them in the clinical and clinimetric context. ...Existing scales for oromandibular, arm, and task-specific dystonia should be refined and …
The Movement Disorders Society commissioned this task force to critique existing dystonia rating scales and place them in the …
Genetics and pharmacological treatment of dystonia.
Barrett MJ, Bressman S. Barrett MJ, et al. Int Rev Neurobiol. 2011;98:525-49. doi: 10.1016/B978-0-12-381328-2.00019-5. Int Rev Neurobiol. 2011. PMID: 21907099 Review.
Adult or late-onset dystonia typically begins in the neck, arm, or cranial muscles. Compared to early-onset dystonia, the area of involvement is more likely to remain focal or segmental. ...The current 20 DYT loci comprise a heterogeneous group of disorder
Adult or late-onset dystonia typically begins in the neck, arm, or cranial muscles. Compared to early-onset dystonia, t …
Treatment of psychiatric disturbances in common hyperkinetic movement disorders.
Berardelli I, Pasquini M, Conte A, Bologna M, Berardelli A, Fabbrini G. Berardelli I, et al. Expert Rev Neurother. 2019 Jan;19(1):55-65. doi: 10.1080/14737175.2019.1555475. Epub 2018 Dec 10. Expert Rev Neurother. 2019. PMID: 30501439 Review.
Introduction: This paper reviews studies that have assessed the treatment of psychiatric disturbances in dystonia, tic disorders, Tourette syndrome, Huntington's disease, and essential tremor. Areas covered: We searched for papers in English in Pubmed using the foll …
Introduction: This paper reviews studies that have assessed the treatment of psychiatric disturbances in dystonia, tic disorders
Applications of Transcranial Magnetic Stimulation for Understanding and Treating Dystonia.
Frey J, Ramirez-Zamora A, Wagle Shukla A. Frey J, et al. Adv Neurobiol. 2023;31:119-139. doi: 10.1007/978-3-031-26220-3_7. Adv Neurobiol. 2023. PMID: 37338699 Review.
Repetitive TMS pulses (rTMS) in dystonia have therapeutic potential as they can induce local and network-wide effects through modulation of excitability and plasticity. The bulk of rTMS studies has targeted the premotor cortex with some promising results in focal hand d
Repetitive TMS pulses (rTMS) in dystonia have therapeutic potential as they can induce local and network-wide effects through modulat …
43 results