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Year Number of Results
1972 1
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1988 1
1989 1
1990 1
1992 1
1993 1
1994 2
1995 1
1996 1
1997 3
1998 1
1999 4
2001 2
2002 4
2003 1
2004 1
2006 1
2007 3
2008 1
2009 5
2010 6
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2013 6
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2015 4
2016 5
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104 results

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Page 1
Genetic Update and Treatment for Dystonia.
Koptielow J, Szyłak E, Szewczyk-Roszczenko O, Roszczenko P, Kochanowicz J, Kułakowska A, Chorąży M. Koptielow J, et al. Int J Mol Sci. 2024 Mar 22;25(7):3571. doi: 10.3390/ijms25073571. Int J Mol Sci. 2024. PMID: 38612382 Free PMC article. Review.
Genetic dystonias are linked to several genes, including pathogenic variations of VPS16, TOR1A, THAP1, GNAL, and ANO3. ...This review aims to summarize recent advances in the genetic origins and management of focal dystonia....
Genetic dystonias are linked to several genes, including pathogenic variations of VPS16, TOR1A, THAP1, GNAL, and ANO3. ...This review …
Genetic screening in patients of Meige syndrome and blepharospasm.
Teng X, Qu Q, Shu Y, Gong J, Xu B, Qu J. Teng X, et al. Neurol Sci. 2022 Jun;43(6):3683-3694. doi: 10.1007/s10072-022-05900-8. Epub 2022 Jan 19. Neurol Sci. 2022. PMID: 35044558
OBJECTIVE: Meige syndrome (MS) is cranial dystonia, including bilateral eyelid spasms (blepharospasm; BSP) and involuntary movements of the jaw muscles (oromandibular dystonia; OMD). ...METHODS: We performed Sanger sequencing of GNAL, TOR1A, TOR2A, THAP1, and REEP4 …
OBJECTIVE: Meige syndrome (MS) is cranial dystonia, including bilateral eyelid spasms (blepharospasm; BSP) and involuntary movements …
Pain Reduction in Cervical Dystonia Following Treatment with IncobotulinumtoxinA: A Pooled Analysis.
Albanese A, Wissel J, Jost WH, Castagna A, Althaus M, Comes G, Scheschonka A, Vacchelli M, Jinnah HA. Albanese A, et al. Toxins (Basel). 2023 May 12;15(5):333. doi: 10.3390/toxins15050333. Toxins (Basel). 2023. PMID: 37235367 Free PMC article.
This analysis pooled pain severity data from four phase 3 and 4 studies of incobotulinumtoxinA (incoBoNT-A) for the treatment of cervical dystonia (CD) in adults. CD-related pain severity was assessed at baseline, each injection visit, and 4 weeks after each injection of i …
This analysis pooled pain severity data from four phase 3 and 4 studies of incobotulinumtoxinA (incoBoNT-A) for the treatment of cervical …
Genotype-phenotype correlation and treatment effects in young patients with GNAO1-associated disorders.
Thiel M, Bamborschke D, Janzarik WG, Assmann B, Zittel S, Patzer S, Auhuber A, Opp J, Matzker E, Bevot A, Seeger J, van Baalen A, Stüve B, Brockmann K, Cirak S, Koy A. Thiel M, et al. J Neurol Neurosurg Psychiatry. 2023 Oct;94(10):806-815. doi: 10.1136/jnnp-2022-330261. Epub 2023 May 24. J Neurol Neurosurg Psychiatry. 2023. PMID: 37225406
In this retrospective, multicentre cohort study, we collected detailed clinical data, treatment effects and genetic data for 25 affected patients. RESULTS: The main clinical features were symptom onset within the first months of life, with central hypotonia or seizures. Wi …
In this retrospective, multicentre cohort study, we collected detailed clinical data, treatment effects and genetic data for 25 affec …
Neuropsychological Functioning in Primary Dystonia: Updated and Expanded Multidomain Meta-Analysis.
Aita SL, Del Bene VA, Marotta DA, Pizer JH, Hawley NA, Niccolai L, Walker HC, Gerstenecker A, Martin RC, Clay OJ, Crowe M, Triebel KL, Hill BD. Aita SL, et al. Mov Disord. 2022 Jul;37(7):1483-1494. doi: 10.1002/mds.29022. Epub 2022 Apr 6. Mov Disord. 2022. PMID: 35385165

RESULTS: From 866 initial results, 20 studies met criteria for analysis (dystonia n = 739, controls n = 643; 254 effect sizes extracted). Meta-analysis showed a significant combined effect size of primary dystonia across all studies (g = -0.56, P < 0.001), with l

…
RESULTS: From 866 initial results, 20 studies met criteria for analysis (dystonia n = 739, controls n = 643; 254 effect sizes extract …
Clinical practice guidelines.
Van Sant AF. Van Sant AF. Pediatr Phys Ther. 2013 Winter;25(4):347. doi: 10.1097/01.pep.0000434374.92441.97. Pediatr Phys Ther. 2013. PMID: 24076626 No abstract available.
Phenotype and genotype heterogeneity of PLA2G6-associated neurodegeneration in a cohort of pediatric and adult patients.
Dehnavi AZ, Bemanalizadeh M, Kahani SM, Ashrafi MR, Rohani M, Toosi MB, Heidari M, Hosseinpour S, Amini B, Zokaei S, Rezaei Z, Aryan H, Amanat M, Vahidnezhad H, Mohammadi P, Garshasbi M, Tavasoli AR. Dehnavi AZ, et al. Orphanet J Rare Dis. 2023 Jul 5;18(1):177. doi: 10.1186/s13023-023-02780-9. Orphanet J Rare Dis. 2023. PMID: 37403138 Free PMC article.
BACKGROUND: Phospholipase-associated neurodegeneration (PLAN) caused by mutations in the PLA2G6 gene is a rare neurodegenerative disorder that presents with four sub-groups. Infantile neuroaxonal dystrophy (INAD) and PLA2G6-related dystonia-parkinsonism are the main two su …
BACKGROUND: Phospholipase-associated neurodegeneration (PLAN) caused by mutations in the PLA2G6 gene is a rare neurodegenerative disorder th …
Clinical diagnostic exome sequencing in dystonia: Genetic testing challenges for complex conditions.
Powis Z, Towne MC, Hagman KDF, Blanco K, Palmaer E, Castro A, Sajan SA, Radtke K, Feyma TJ, Juliette K, Tang S, Sidiropoulos C. Powis Z, et al. Clin Genet. 2020 Feb;97(2):305-311. doi: 10.1111/cge.13657. Epub 2019 Oct 30. Clin Genet. 2020. PMID: 31628766
Personal and family history data were collected from test requisition forms and medical records from 189 patients with reported dystonia and available family members received for clinical DES. Of them, 20.2% patients had a positive genetic finding associated with dyston …
Personal and family history data were collected from test requisition forms and medical records from 189 patients with reported dystonia …
Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14.
Chelban V, Wiethoff S, Fabian-Jessing BK, Haridy NA, Khan A, Efthymiou S, Becker EBE, O'Connor E, Hersheson J, Newland K, Hojland AT, Gregersen PA, Lindquist SG, Petersen MB, Nielsen JE, Nielsen M, Wood NW, Giunti P, Houlden H. Chelban V, et al. Mov Disord. 2018 Jul;33(7):1119-1129. doi: 10.1002/mds.27334. Epub 2018 Mar 30. Mov Disord. 2018. PMID: 29603387 Free PMC article.
However, one third of patients presented with a complex ataxia comprising severe focal and/or task-induced dystonia, peripheral neuropathy, parkinsonism, myoclonus, and pyramidal syndrome. ...Movement Disorders published by Wiley Periodicals, Inc. on behalf of Inter …
However, one third of patients presented with a complex ataxia comprising severe focal and/or task-induced dystonia, peripheral neuro …
Quality and reporting of guidelines on the diagnosis and management of dystonia.
Tamás G, Abrantes C, Valadas A, Radics P, Albanese A, Tijssen MAJ, Ferreira JJ. Tamás G, et al. Eur J Neurol. 2018 Feb;25(2):275-283. doi: 10.1111/ene.13488. Epub 2017 Dec 22. Eur J Neurol. 2018. PMID: 29053896
METHODS: We searched for clinical practice guidelines on dystonia diagnosis/treatment in the National Guideline Clearinghouse, PubMed, National Institute for Health and Care Excellence, Guidelines International Network and Web of Science databases. ...CONCLUSIONS: T …
METHODS: We searched for clinical practice guidelines on dystonia diagnosis/treatment in the National Guideline Clearinghouse, PubMed …
104 results