id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_m2a5km56vbdo3iuizern5xhkvi	Vincenzo Leuzzi	Ataxia-telangiectasia	2018	5	.pdf	application/pdf	2559	243	48	Vincenzo Leuzzi, MD, Daniela D'Agnano, MD, Michele Menotta, PhD, Caterina Caputi, MD, Luciana Chessa, MD, on the clinical characteristics and transcriptome profile of patients with a typical AT presentation and genotype who experienced an unexpected favorable course. of healthy controls and patients with the classic AT phenotype. profile: while 90% of transcripts were expressed as in patients with the classic AT presentation, The unexpected mild clinical outcome and transcriptome profile of this patient with AT suggest Full disclosure form information provided by the authors is available with the full text of this article at Here, we report on a new clinical variant with an early progressive course, late remission, and stable neurologic status genotype of our patient is characterized by an inframe deletion and a missense mutation without residual ATM activity. Recent reports showed that absent ATM activity and high AFP may be associated with a late-onset or http://ng.neurology.org//cgi/collection/spinocerebellar_ataxia http://ng.neurology.org//cgi/collection/spinocerebellar_ataxia	./cache/work_m2a5km56vbdo3iuizern5xhkvi.pdf	./txt/work_m2a5km56vbdo3iuizern5xhkvi.txt