Thomas Voit

Thomas Voit publication distribution in Medicine in 2026

The chart shows the distribution of publications by all Research.com ranked scientists in the field of Medicine in 2026. The highlighted bar marks where Thomas Voit sits on this spectrum.

Thomas Voit D-index placement in Medicine in 2026

The chart shows the D-index (discipline H-index) distribution of Medicine scientists ranked by Research.com in 2026. The highlighted bar marks where Thomas Voit sits on this spectrum.

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