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Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease

  • Sandra Donkervoort
  • , Martijn van de Locht
  • , Dario Ronchi
  • , Janine Reunert
  • , Catriona A McLean
  • , Maha Zaki
  • , Rotem Orbach
  • , Daan Hoomoedt
  • , Josine M de Winter
  • , Stefan Conijn
  • , Osorio Lopes Abath Neto
  • , Francesca Magri
  • , Angela N Viaene
  • , A Reghan Foley
  • , Svetlana Gorokhova
  • , Véronique Bolduc
  • , Ying Hu
  • , Nicole Acquaye
  • , Laura Napoli
  • , Julien H Park
    • Kalyan Immadisetty, Lee B Miles, Mona Essawi, Salar McModie, Leonardo F Ferreira, Simona Zanotti, Sarah B Neuhaus, Livija Medne, Nagham ElBagoury, Kory R Johnson, Yong Zhang, Nigel G Laing, Mark R Davis, Robert J Bryson-Richardson, Darren T Hwee, James J Hartman, Fady I Malik, Peter M Kekenes-Huskey, Giacomo Pietro Comi, Wessam Sharaf-Eldin, Thorsten Marquardt, Gianina Ravenscroft, Carsten G Bönnemann, Coen A C Ottenheijm
  • University of Milan
  • University of Münster
  • The Alfred Hospital
  • Human Genetics and Genome Research Institute
  • National Institutes of Health
  • Department of Physiology
  • Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
  • Perelman School of Medicine, University of Pennsylvania
  • University Hospital Münster
  • Loyola Marymount University
  • Monash University
  • Department of Neurology
  • Children's Hospital of Philadelphia
  • Neurogenetics Unit, Nedlands, Australia
  • Research and Development
  • Western Australia Centre for Health and Ageing, Centre for Medical Research, University of Western Australia

Research output: Contribution to journal › Article › Academic › peer-review

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Biochemistry, Genetics and Molecular Biology

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