Thomas Voït - Concepedia

Author

Thomas Voït

Institut de Myologie

Also Known As

Harvey Sarnat, M. van den Hauwe, T Voit, T. VOIT, T. Voit, T. Voït, Thomas Voit, Thomas Voït, Voit, T., Voit, Thomas

286

Publications

11.9K

Citations

H-Index

150

Concepts

All Affiliations

Institut de Myologie Sorbonne Université Inserm Centre de Recherche en Myologie Centre National de la Recherche Scientifique

About

Thomas Voït is an author at Institut de Myologie specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	40	58	7.5K
2	Health Sciences	7	7	507
3	Natural Sciences	6	6	953
4	Public Health	3	3	603
5	Engineering	1	1	65

Thomas Voït

108

Publications

11.4K

Citations

H-Index

Page 1

	Year	Citations
Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus Yanick J. Crow, Bruce E. Hayward, Rekha Parmar, Nature Genetics Ags1 LocusMendelian DisorderGenetic DisorderMedicineGenetics	2006	876
Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome Daniel Beltrán-Valero de Bernabé, Sophie Currier, Alice Steinbrecher, The American Journal of Human Genetics Molecular NeuroscienceDevelopmental BiologyMendelian DisorderGenetic DisorderGenetics	2002	684
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection Yanick J. Crow, Andrea Leitch, Bruce E. Hayward, Nature Genetics Ribonuclease H2Viral EvolutionGenetic DisorderNeurovirologyGenetics	2006	666
Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial Craig M. McDonald, Craig Campbell, Ricardo Erazo Torricelli, The Lancet Rare DiseasesUrologyClinical TrialsDegenerative DiseaseRehabilitation	2017	446
Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome Gillian Rice, Teresa Patrick, Rekha Parmar, The American Journal of Human Genetics CardiomyopathyHeart FailureCardiorenal SyndromesCardiovascular DiseaseMolecular Phenotype	2007	442
Ataluren treatment of patients with nonsense mutation dystrophinopathy K. Bushby, Richard S. Finkel, Brenda Wong, Muscle & Nerve	2014	416
Immortalized pathological human myoblasts: towards a universal tool for the study of neuromuscular disorders Kamel Mamchaoui, Capucine Trollet, Anne Bigot, Skeletal Muscle	2011	311
Functional correction in mouse models of muscular dystrophy using exon-skipping tricyclo-DNA oligomers Aurélie Goyenvalle, Graziella Griffith, Arran Babbs, Nature Medicine ChromatinGenome InstabilityExon-skipping Tricyclo-dna OligomersNatural SciencesOligonucleotide	2015	306
Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice Elisa Dominguez, Thibaut Marais, Nicolas Chatauret, Human Molecular Genetics	2010	288
Chinese hamster ovary cell-derived recombinant human acid α-glucosidase in infantile-onset Pompe disease Priya S. Kishnani, Marc Nicolino, Thomas Voït, The Journal of Pediatrics Autoimmune DiseasePathogenesisImmunologyGynecologyPathology	2006	282

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