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Quoted phrase not found in phrase index: "Torsion dystonia 17"
Page 1
Basal ganglia and cerebellar pathology in X-linked dystonia-parkinsonism.
Hanssen H, Heldmann M, Prasuhn J, Tronnier V, Rasche D, Diesta CC, Domingo A, Rosales RL, Jamora RD, Klein C, Münte TF, Brüggemann N. Hanssen H, et al. Brain. 2018 Oct 1;141(10):2995-3008. doi: 10.1093/brain/awy222. Brain. 2018. PMID: 30169601
X-linked dystonia-parkinsonism is a neurodegenerative movement disorder characterized by adult-onset dystonia combined with parkinsonism over the disease course. ...In this study, we aimed to (i) disentangle the degree of atrophy in the different subdivisions …
X-linked dystonia-parkinsonism is a neurodegenerative movement disorder characterized by adult-onset dystonia combined with pa …
The relationship between trauma and idiopathic torsion dystonia.
Fletcher NA, Harding AE, Marsden CD. Fletcher NA, et al. J Neurol Neurosurg Psychiatry. 1991 Aug;54(8):713-7. doi: 10.1136/jnnp.54.8.713. J Neurol Neurosurg Psychiatry. 1991. PMID: 1940944 Free PMC article.
Generalised, multifocal or segmental idiopathic torsion dystonia (ITD), is caused by an autosomal dominant gene with reduced penetrance in about 85% of cases. ...Eight of these 17 patients had affected relatives. If precipitated, dystonia appeared first in th …
Generalised, multifocal or segmental idiopathic torsion dystonia (ITD), is caused by an autosomal dominant gene with reduced p …
Onset and progression of primary torsion dystonia in sporadic and familial cases.
Elia AE, Filippini G, Bentivoglio AR, Fasano A, Ialongo T, Albanese A. Elia AE, et al. Eur J Neurol. 2006 Oct;13(10):1083-8. doi: 10.1111/j.1468-1331.2006.01387.x. Eur J Neurol. 2006. PMID: 16987160
Four hundred and sixty records of patients with primary torsion dystonia (296 women and 164 men) were evaluated. The mean age at disease onset was 48.3 +/- 17.7 years; 13 patients carried the DYT1 CAG deletion. ...Familial cases were characterized by more sites invo …
Four hundred and sixty records of patients with primary torsion dystonia (296 women and 164 men) were evaluated. The mean age …
Pallidal stimulation in children: comparison between cerebral palsy and DYT1 dystonia.
Marks W, Bailey L, Reed M, Pomykal A, Mercer M, Macomber D, Acosta F Jr, Honeycutt J. Marks W, et al. J Child Neurol. 2013 Jul;28(7):840-8. doi: 10.1177/0883073813488674. Epub 2013 May 10. J Child Neurol. 2013. PMID: 23666041
The group as a whole demonstrated significant improvement on the Barry-Albright Dystonia Scale across time. Gains in motor function were apparent in both axial and appendicular distributions involving both upper and lower extremities. Gains achieved by 6 months were sustai …
The group as a whole demonstrated significant improvement on the Barry-Albright Dystonia Scale across time. Gains in motor function w …
Long term follow-up results of deep brain stimulation of the Globus pallidus interna in pediatric patients with DYT1-positive dystonia.
Ramezani Ghamsari M, Ghourchian S, Emamikhah M, Safdarian M, Shahidi G, Parvaresh M, Moghaddasi M, Habibi SAH, Munhoz RP, Rohani M. Ramezani Ghamsari M, et al. Clin Neurol Neurosurg. 2021 Feb;201:106449. doi: 10.1016/j.clineuro.2020.106449. Epub 2020 Dec 28. Clin Neurol Neurosurg. 2021. PMID: 33395620
OBJECTIVES: Primary generalized dystonia (PGD) due to heterozygous torsin 1A (TOR1A) gene mutation (DYT1) is a childhood onset dystonia with rapid deterioration of symptoms, leading to severe disability in adolescence. ...Burke-Fahn-Marsden Dystonia Rating Sc …
OBJECTIVES: Primary generalized dystonia (PGD) due to heterozygous torsin 1A (TOR1A) gene mutation (DYT1) is a childhood onset dys …
Clinical features of Meige's disease (idiopathic orofacial dystonia): a report of 17 cases.
Tolosa ES. Tolosa ES. Arch Neurol. 1981 Mar;38(3):147-51. doi: 10.1001/archneur.1981.00510030041005. Arch Neurol. 1981. PMID: 7469847
Seventeen patients with prominent orofacial dystonia of unknown cause (idiopathic orofacial dystonia: Meige's disease) were examined and several clinical features seen that, to my knowledge, had previously not been recognized. ...The "spasm facial median" of Meige m …
Seventeen patients with prominent orofacial dystonia of unknown cause (idiopathic orofacial dystonia: Meige's disease) were ex …
Intrafamilial phenotypic variability of the DYT1 dystonia: from asymptomatic TOR1A gene carrier status to dystonic storm.
Opal P, Tintner R, Jankovic J, Leung J, Breakefield XO, Friedman J, Ozelius L. Opal P, et al. Mov Disord. 2002 Mar;17(2):339-45. doi: 10.1002/mds.10096. Mov Disord. 2002. PMID: 11921121
When primary torsion dystonia is caused by a GAG deletion in the TOR1A gene (DYT1 dystonia), it typically presents with an early-onset dystonia involving distal limbs, subsequently spreading to a generalized dystonia. ...One family member had on …
When primary torsion dystonia is caused by a GAG deletion in the TOR1A gene (DYT1 dystonia), it typically presents with …
Preimplantation genetic diagnosis for early-onset torsion dystonia.
Rechitsky S, Verlinsky O, Kuliev A, Ozen S, Laziuk K, Beck R, Gleicher N, Verlinsky Y. Rechitsky S, et al. Reprod Biomed Online. 2004 Feb;8(2):224-8. doi: 10.1016/s1472-6483(10)60520-2. Reprod Biomed Online. 2004. PMID: 14989804
Early-onset primary torsion dystonia (DYT1) is the most severe and common form of hereditary movement disorders, characterized by sustained twisting contractures that begin in childhood, which is caused in majority of cases by a 3-bp deletion of the DYT1 gene on chr …
Early-onset primary torsion dystonia (DYT1) is the most severe and common form of hereditary movement disorders, characterized …
Frequency of familial inheritance among 488 index patients with idiopathic focal dystonia and clinical variability in a large family.
Leube B, Kessler KR, Goecke T, Auburger G, Benecke R. Leube B, et al. Mov Disord. 1997 Nov;12(6):1000-6. doi: 10.1002/mds.870120625. Mov Disord. 1997. PMID: 9399227
Idiopathic torsion dystonia is characterized by involuntary twisting movements and postures. ...Assessment only on patients' report leads to underestimation of the frequency of familial idiopathic focal dystonia....
Idiopathic torsion dystonia is characterized by involuntary twisting movements and postures. ...Assessment only on patients' r …
A statistical method for quantitative evaluation of the progression of chronic diseases: the mean score graph (MSG).
Zilber N, Manor O, Inzelberg R, Kahana E, Korczyn AD. Zilber N, et al. Stat Med. 1998 Oct 30;17(20):2395-403. doi: 10.1002/(sici)1097-0258(19981030)17:20<2395::aid-sim932>3.0.co;2-q. Stat Med. 1998. PMID: 9819835
We present a quantitative method of evaluation of the clinical course of chronic disease with long-term progressive deterioration. ...We present the 'mean score graph' as a descriptive device which is an extension of a survival graph. The description of progression of idio …
We present a quantitative method of evaluation of the clinical course of chronic disease with long-term progressive deterioration. .. …
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