TY  - GEN
AU  - Thiele,Holger
AU  - du Moulin,Marcel
AU  - Barczyk,Katarzyna
AU  - George,Christel
AU  - Schwindt,Wolfram
AU  - Nürnberg,Gudrun
AU  - Frosch,Michael
AU  - Kurlemann,Gerhard
AU  - Roth,Johannes
AU  - Nürnberg,Peter
AU  - Rutsch,Frank
TI  - Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression
SN  - 1098-1004
PY  - 2010///1216
KW  - Adult
KW  - Autoimmune Diseases of the Nervous System
KW  - genetics
KW  - Base Sequence
KW  - Cerebral Arterial Diseases
KW  - Codon, Nonsense
KW  - Consanguinity
KW  - Constriction, Pathologic
KW  - Cytokines
KW  - DNA Mutational Analysis
KW  - DNA Primers
KW  - Female
KW  - Gene Expression
KW  - Haplotypes
KW  - Homozygote
KW  - Humans
KW  - Male
KW  - Monomeric GTP-Binding Proteins
KW  - Nervous System Malformations
KW  - Pedigree
KW  - SAM Domain and HD Domain-Containing Protein 1
KW  - Siblings
KW  - Stroke
KW  - Young Adult
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/humu.21357
ER  -