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Quoted phrase not found in phrase index: "Early-onset generalized limb-onset dystonia"
Page 1
Non-DYT1 early-onset primary torsion dystonia: comparison with DYT1 phenotype and review of the literature.
Fasano A, Nardocci N, Elia AE, Zorzi G, Bentivoglio AR, Albanese A. Fasano A, et al. Mov Disord. 2006 Sep;21(9):1411-8. doi: 10.1002/mds.21000. Mov Disord. 2006. PMID: 16773641 Review.
To investigate the clinical features of early-onset primary torsion dystonia (EO-PTD), 57 consecutive genetically characterized patients with onset before 21 years were studied. Sex, ethnic origin, family history of dystonia, age at onset, disea …
To investigate the clinical features of early-onset primary torsion dystonia (EO-PTD), 57 consecutive genetically chara …
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
The distribution of age at onset was represented by a bi-modal curve, with a nadir at 21 year separating early onset from late onset cases. In 15.9% of cases there was a positive family history of dystonia. ...As expected, disease progression was more …
The distribution of age at onset was represented by a bi-modal curve, with a nadir at 21 year separating early onset from late …
Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia.
Zech M, Boesch S, Maier EM, Borggraefe I, Vill K, Laccone F, Pilshofer V, Ceballos-Baumann A, Alhaddad B, Berutti R, Poewe W, Haack TB, Haslinger B, Strom TM, Winkelmann J. Zech M, et al. Am J Hum Genet. 2016 Dec 1;99(6):1377-1387. doi: 10.1016/j.ajhg.2016.10.010. Epub 2016 Nov 10. Am J Hum Genet. 2016. PMID: 27839873 Free PMC article.
Early-onset generalized dystonia represents the severest form of dystonia, a hyperkinetic movement disorder defined by involuntary twisting postures. ...The phenotype of individuals with KMT2B loss-of-function mutations was dominated by childhoo …
Early-onset generalized dystonia represents the severest form of dystonia, a hyperkinetic movement disord …
GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in Germany.
Kamm C, Castelon-Konkiewitz E, Naumann M, Heinen F, Brack M, Nebe A, Ceballos-Baumann A, Gasser T. Kamm C, et al. Mov Disord. 1999 Jul;14(4):681-3. doi: 10.1002/1531-8257(199907)14:4<681::aid-mds1020>3.0.co;2-m. Mov Disord. 1999. PMID: 10435508
Three of five patients with early limb-onset ITD, one of them with a positive family history, tested positive for the mutation, as did one young patient with multifocal dystonia and a short course of the disease. Two patients with early- …
Three of five patients with early limb-onset ITD, one of them with a positive family history, tested positive for the m …