Thomas Voit

Thomas Voit

University College London - London / United Kingdom
Others
AD Scientific Index ID: 1340612
person_outline Thomas Voit's MOST POPULAR ARTICLES
1-) Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus Nature genetics 38 (8), 917-920, 2006
2-) Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1 Developmental cell 1 (5), 717-724, 2001
3-) Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection Nature genetics 38 (8), 910-916, 2006
4-) Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome The American Journal of Human Genetics 71 (5), 1033-1043, 2002
5-) Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin α2 deficiency and abnormal glycosylation of α-dystroglycan The American Journal of Human Genetics 69 (6), 1198-1209, 2001