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Quoted phrase not found in phrase index: "Torsion dystonia 4"
Page 1
Genetics of primary torsion dystonia.
Brüggemann N, Klein C. Brüggemann N, et al. Curr Neurol Neurosci Rep. 2010 May;10(3):199-206. doi: 10.1007/s11910-010-0107-5. Curr Neurol Neurosci Rep. 2010. PMID: 20425035 Review.
Advances in the genetics of dystonia have further elucidated the pathophysiology of this clinically and etiologically heterogeneous group of movement disorders. Currently, 20 monogenic forms of dystonia, designated by the acronym DYT, are grouped as 1) pure dystonia …
Advances in the genetics of dystonia have further elucidated the pathophysiology of this clinically and etiologically heterogeneous g …
Long-term follow-up of deep brain stimulation for Meige syndrome.
Lyons MK, Birch BD, Hillman RA, Boucher OK, Evidente VG. Lyons MK, et al. Neurosurg Focus. 2010 Aug;29(2):E5. doi: 10.3171/2010.4.FOCUS1067. Neurosurg Focus. 2010. PMID: 20672922 Review.
OBJECT: Meige syndrome is characterized by blepharospasm, cervical dystonia, and facial oromandibular dystonia. The medical treatment of this condition is largely unsuccessful over time and is a major source of decreased quality of life in those patients suffering f …
OBJECT: Meige syndrome is characterized by blepharospasm, cervical dystonia, and facial oromandibular dystonia. The medical tr …
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 …
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 …
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 …
Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation.
Chinnery PF, Crompton DE, Birchall D, Jackson MJ, Coulthard A, Lombès A, Quinn N, Wills A, Fletcher N, Mottershead JP, Cooper P, Kellett M, Bates D, Burn J. Chinnery PF, et al. Brain. 2007 Jan;130(Pt 1):110-9. doi: 10.1093/brain/awl319. Epub 2006 Dec 2. Brain. 2007. PMID: 17142829
Features overlap with common extrapyramidal disorders: idiopathic torsion dystonia, idiopathic Parkinson's disease and Huntington's disease, but the phenotype and natural history have not been defined. We studied a genetically homogeneous group of 41 subjects with t …
Features overlap with common extrapyramidal disorders: idiopathic torsion dystonia, idiopathic Parkinson's disease and Hunting …
Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene.
Lohmann K, Wilcox RA, Winkler S, Ramirez A, Rakovic A, Park JS, Arns B, Lohnau T, Groen J, Kasten M, Brüggemann N, Hagenah J, Schmidt A, Kaiser FJ, Kumar KR, Zschiedrich K, Alvarez-Fischer D, Altenmüller E, Ferbert A, Lang AE, Münchau A, Kostic V, Simonyan K, Agzarian M, Ozelius LJ, Langeveld AP, Sue CM, Tijssen MA, Klein C. Lohmann K, et al. Ann Neurol. 2013 Apr;73(4):537-45. doi: 10.1002/ana.23829. Epub 2013 Apr 17. Ann Neurol. 2013. PMID: 23595291 Free PMC article.
OBJECTIVE: A study was undertaken to identify the gene underlying DYT4 dystonia, a dominantly inherited form of spasmodic dysphonia combined with other focal or generalized dystonia and a characteristic facies and body habitus, in an Australian family. ...Given that …
OBJECTIVE: A study was undertaken to identify the gene underlying DYT4 dystonia, a dominantly inherited form of spasmodic dysphonia c …
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 …
Genetics, geography and intelligence in the torsion dystonias.
Eldridge R, Edgar A, Cooper IS. Eldridge R, et al. Birth Defects Orig Artic Ser. 1971 Feb;7(1):167-77. Birth Defects Orig Artic Ser. 1971. PMID: 5173357
Personal study of 137 individuals with torsion dystonia (TD) in 92 families, and review of 476 reported cases indicate that there are at least two hereditary forms of TD in addition to acquired dystonia. Autosomal recessive TD, with onset generally between th …
Personal study of 137 individuals with torsion dystonia (TD) in 92 families, and review of 476 reported cases indicate that th …
29 results