Spremljaj
Thomas Voit
Thomas Voit
Preverjeni e-poštni naslov na ucl.ac.uk
Naslov
Navedeno
Navedeno
Leto
Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus
YJ Crow, BE Hayward, R Parmar, P Robins, A Leitch, M Ali, DN Black, ...
Nature genetics 38 (8), 917-920, 2006
9392006
Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1
A Yoshida, K Kobayashi, H Manya, K Taniguchi, H Kano, M Mizuno, ...
Developmental cell 1 (5), 717-724, 2001
8582001
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome
DBV de Bernabé, S Currier, A Steinbrecher, J Celli, E Van Beusekom, ...
The American Journal of Human Genetics 71 (5), 1033-1043, 2002
7942002
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection
YJ Crow, A Leitch, BE Hayward, A Garner, R Parmar, E Griffith, M Ali, ...
Nature genetics 38 (8), 910-916, 2006
7722006
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
M Brockington, DJ Blake, P Prandini, SC Brown, S Torelli, MA Benson, ...
The American Journal of Human Genetics 69 (6), 1198-1209, 2001
6722001
Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C
M Brockington, Y Yuva, P Prandini, SC Brown, S Torelli, MA Benson, ...
Human molecular genetics 10 (25), 2851-2859, 2001
5782001
G protein-coupled receptor-dependent development of human frontal cortex
X Piao, RS Hill, A Bodell, BS Chang, L Basel-Vanagaite, R Straussberg, ...
Science 303 (5666), 2033-2036, 2004
5672004
Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy
MR di Barletta, E Ricci, G Galluzzi, P Tonali, M Mora, L Morandi, ...
The American Journal of Human Genetics 66 (4), 1407-1412, 2000
5122000
Ataluren treatment of patients with nonsense mutation dystrophinopathy
K Bushby, R Finkel, B Wong, R Barohn, C Campbell, GP Comi, ...
Muscle & nerve 50 (4), 477-487, 2014
5102014
Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of α-dystroglycan
C Longman, M Brockington, S Torelli, C Jimenez-Mallebrera, C Kennedy, ...
Human molecular genetics 12 (21), 2853-2861, 2003
4912003
Lack of myostatin results in excessive muscle growth but impaired force generation
H Amthor, R Macharia, R Navarrete, M Schuelke, SC Brown, A Otto, T Voit, ...
Proceedings of the National Academy of Sciences 104 (6), 1835-1840, 2007
4812007
Clinical and molecular phenotype of Aicardi-Goutieres syndrome
G Rice, T Patrick, R Parmar, CF Taylor, A Aeby, J Aicardi, R Artuch, ...
The American Journal of Human Genetics 81 (4), 713-725, 2007
4762007
Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial
CM McDonald, C Campbell, RE Torricelli, RS Finkel, KM Flanigan, ...
The Lancet 390 (10101), 1489-1498, 2017
4542017
Mutations in the a3 subunit of the vacuolar H+-ATPase cause infantile malignant osteopetrosis
U Kornak, A Schulz, W Friedrich, S Uhlhaas, B Kremens, T Voit, C Hasan, ...
Human molecular genetics 9 (13), 2059-2063, 2000
4242000
Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology …
A Ferreiro, S Quijano-Roy, C Pichereau, B Moghadaszadeh, N Goemans, ...
The American Journal of Human Genetics 71 (4), 739-749, 2002
3972002
Safety and efficacy of drisapersen for the treatment of Duchenne muscular dystrophy (DEMAND II): an exploratory, randomised, placebo-controlled phase 2 study
T Voit, H Topaloglu, V Straub, F Muntoni, N Deconinck, G Campion, ...
The Lancet Neurology 13 (10), 987-996, 2014
3782014
Chinese hamster ovary cell-derived recombinant human acid α-glucosidase in infantile-onset Pompe disease
PS Kishnani, M Nicolino, T Voit, RC Rogers, ACH Tsai, J Waterson, ...
The Journal of pediatrics 149 (1), 89-97, 2006
3582006
Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice
E Dominguez, T Marais, N Chatauret, S Benkhelifa-Ziyyat, S Duque, ...
Human molecular genetics 20 (4), 681-693, 2011
3502011
Patterns and predictors of sleep disordered breathing in primary myopathies
R Ragette, U Mellies, C Schwake, T Voit, H Teschler
Thorax 57 (8), 724-728, 2002
3222002
Immortalized pathological human myoblasts: towards a universal tool for the study of neuromuscular disorders
K Mamchaoui, C Trollet, A Bigot, E Negroni, S Chaouch, A Wolff, ...
Skeletal muscle 1, 1-11, 2011
3212011
Sistem trenutno ne more izvesti postopka. Poskusite znova pozneje.
Članki 1–20