id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_jx4rvqykm5cdfgkrg7ctxl3vxa	Monica Bonetti	Mutation screening of the DYT6/THAP1gene in Italy	2009.0	4	.pdf	application/pdf	2851	291	62	Mutation screening of the DYT6/THAP1 gene in Italy THAP1 gene in 158 patients with DYT1-negative PTD with right writer's cramp at age of 10 years and, subsequently, developed left arm dystonia and an extremely upper body involvement, including the cranial and cervical districts that are usually spared in DYT1-PTD. Key words: primary torsion dystonia; DYT6; THAP1; torticollis DYT1-negative families with early-onset nonfocal PTD patients with THAP1 mutations so far reported, the particular, up to 78% patients presented cranial dystonia, of whom a large proportion experienced speech The THAP1 gene was first tested in 130 patients of known patients with THAP1 mutations had an onset reported by Bressman et al who included in the screening only familial cases in which at least 1 patient had Ferraris, Emanuele Bellacchio, Alessandro Giovanetti, Tamara Ialongo, Giovanna Zorzi, Carla Piano, Martina Petracca, THAP1 gene are responsible for DYT6 primary torsion dystonia. Mutations in THAP1 (DYT6) in early-onset 2427DYT6/THAP1 DYSTONIA IN ITALY 2427DYT6/THAP1 DYSTONIA IN ITALY	./cache/work_jx4rvqykm5cdfgkrg7ctxl3vxa.pdf	./txt/work_jx4rvqykm5cdfgkrg7ctxl3vxa.txt