id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_mefs2makyzgunc4iept5aozrwu	M. du Moulin	Cerebral vasculopathy is a common feature in Aicardi-Goutieres syndrome associated with SAMHD1 mutations	2011.0	1	.pdf	application/pdf	841	121	60	gene sequencing, the authors identified the homozygous mutation c.1411-2A > G in SAMHD1 being associated with this entity. Although mutations in SAMHD1 have been found to be diseasecausing in Aicardi–Goutières syndrome (AGS) (2), Xin et al. and cerebral vasculopathy in patients with AGS carrying mutations in SAMHD1 (4, 5). present a new clinical condition but described a heterogeneous group of Old Order Amish individuals with AGS and intracerebral arteriopathy. common phenomenon in patients with SAMHD1 mutations. This work was supported by a grant from the Interdisciplinary Center for Clinical Research Münster (to M.d.M and F.R.). (2011) Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke. (2009) Mutations involved in Aicardi-Goutières syndrome implicate (2010) Intracerebral large artery disease in Aicardi-Goutières syndrome (2010) Cerebral arterial stenoses and stroke: Novel features of AicardiGoutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with	./cache/work_mefs2makyzgunc4iept5aozrwu.pdf	./txt/work_mefs2makyzgunc4iept5aozrwu.txt