Thomas Voit

Overview

Best Publications

• Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

  Richard S. Finkel;Eugenio Mercuri;Basil T. Darras;Anne M. Connolly

  2302
  Citations

• Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus.

  Yanick J Crow;Yanick J Crow;Bruce E Hayward;Rekha Parmar;Peter Robins

  982
  Citations

• Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.

  Aruto Yoshida;Kazuhiro Kobayashi;Hiroshi Manya;Kiyomi Taniguchi

  833
  Citations

• 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;Jacopo Celli

  802
  Citations

• Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.

  Yanick J Crow;Yanick J Crow;Andrea Leitch;Bruce E Hayward;Anna Garner

  783
  Citations

• Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.

  Martin Brockington;Derek J. Blake;Paola Prandini;Susan C. Brown

  674
  Citations

• Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C

  Martin Brockington;Yeliz Yuva;Paola Prandini;Susan C. Brown

  580
  Citations

• G protein-coupled receptor-dependent development of human frontal cortex.

  Xianhua Piao;Sean S. Hill;Adria Bodell;Bernard S. Chang

  560
  Citations

• Different Mutations in the LMNA Gene Cause Autosomal Dominant and Autosomal Recessive Emery-Dreifuss Muscular Dystrophy

  Marina Raffaele di Barletta;Enzo Ricci;Giuliana Galluzzi;Pietro Tonali

  505
  Citations

• Lack of myostatin results in excessive muscle growth but impaired force generation

  Helge Amthor;Raymond Macharia;Roberto Navarrete;Markus Schuelke

  503
  Citations

• Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

  Gillian Rice;Teresa Patrick;Rekha Parmar;Claire F Taylor

  499
  Citations

• 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

  Cheryl Longman;Martin Brockington;Silvia Torelli;Cecilia Jimenez-Mallebrera

  490
  Citations

• Ataluren treatment of patients with nonsense mutation dystrophinopathy

  Katharine Bushby;Richard Finkel;Brenda Wong;Richard Barohn

  477
  Citations

• Mutations of the Selenoprotein N Gene, Which Is Implicated in Rigid Spine Muscular Dystrophy, Cause the Classical Phenotype of Multiminicore Disease: Reassessing the Nosology of Early-Onset Myopathies

  Ana Ferreiro;Susana Quijano-Roy;Claire Pichereau;Behzad Moghadaszadeh

  440
  Citations

• 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;Richard S Finkel;Richard S Finkel

  424
  Citations

• Mutations in the a3 subunit of the vacuolar H+-ATPase cause infantile malignant osteopetrosis

  Uwe Kornak;Ansgar Schulz;Wilhelm Friedrich;Siegfried Uhlhaas

  424
  Citations

• Safety and efficacy of drisapersen for the treatment of Duchenne muscular dystrophy (DEMAND II): an exploratory, randomised, placebo-controlled phase 2 study.

  Thomas Voit;Haluk Topaloglu;Volker Straub;Francesco F. Muntoni

  383
  Citations

• CHINESE HAMSTER OVARY CELL-DERIVED RECOMBINANT HUMAN ACID α-GLUCOSIDASE IN INFANTILE-ONSET POMPE DISEASE

  Priya Sunil Kishnani;Marc Nicolino;Thomas Voit;R. Curtis Rogers

  343
  Citations

• Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice

  Elisa Dominguez;Thibaut Marais;Nicolas Chatauret;Nicolas Chatauret;Sofia Benkhelifa-Ziyyat

  338
  Citations

• The congenital muscular dystrophies in 2004: a century of exciting progress.

  Francesco Muntoni;Thomas Voit

  318
  Citations