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-Goutieres syndrome at the AGS1 locusYJ Crow, BE Hayward, R Parmar, P Robins, A Leitch, M Ali, DN Black, ...Nature genetics 38 (8), 917-920, 20068262006
2-) Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1A Yoshida, K Kobayashi, H Manya, K Taniguchi, H Kano, M Mizuno, ...Developmental cell 1 (5), 717-724, 20018152001
3-) Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infectionYJ Crow, A Leitch, BE Hayward, A Garner, R Parmar, E Griffith, M Ali, ...Nature genetics 38 (8), 910-916, 20068022006
4-) Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndromeDBV de Bernabé, S Currier, A Steinbrecher, J Celli, E Van Beusekom, ...The American Journal of Human Genetics 71 (5), 1033-1043, 20028012002
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-dystroglycanM Brockington, DJ Blake, P Prandini, SC Brown, S Torelli, MA Benson, ...The American Journal of Human Genetics 69 (6), 1198-1209, 20016802001