Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus
2006 · Nature Genetics · 883 citations
https://doi.org/10.1038/ng1845
T
Thomas Voït
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Thomas Voït is an academic researcher from University of Bayreuth. The author has contributed to research in topics: Muscle Physiology and Disorders & Cardiomyopathy and Myosin Studies & Neurogenetic and Muscular Disorders Research. The author has an h-index of 59, co-authored 244 publications.
Papers by this author
worksImmortalized pathological human myoblasts: towards a universal tool for the study of neuromuscular disorders
2011 · Skeletal Muscle · 311 citations
https://doi.org/10.1186/2044-5040-1-34
Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome
2007 · Human Genetics · 142 citations
https://doi.org/10.1007/s00439-007-0362-y
Repair of Mybpc3 mRNA by 5′-trans-splicing in a Mouse Model of Hypertrophic Cardiomyopathy
2013 · Molecular Therapy — Nucleic Acids · 71 citations
https://doi.org/10.1038/mtna.2013.31
Pharmacokinetics and safety of single doses of drisapersen in non-ambulant subjects with Duchenne muscular dystrophy: Results of a double-blind randomized clinical trial
2013 · Neuromuscular Disorders · 69 citations
https://doi.org/10.1016/j.nmd.2013.09.004
Idebenone reduces respiratory complications in patients with Duchenne muscular dystrophy
2016 · Neuromuscular Disorders · 63 citations
https://doi.org/10.1016/j.nmd.2016.05.008
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