Early clinical and pre-clinical therapy development in Nemaline myopathy
Open Access
- 3 October 2022
- journal article
- research article
- Published by Taylor & Francis in Expert Opinion on Therapeutic Targets
- Vol. 26 (10) , 853-867
Abstract
: Nemaline myopathies (NM) represent a group of clinically and genetically heterogeneous congenital muscle disorders with the common denominator of nemaline rods on muscle biopsy. NEB and ACTA1 are...Keywords
This publication has 131 references indexed in Scilit:
- P.9.3 Repair of mutant nebulin transcripts by exon exchangeNeuromuscular Disorders, 2013
- Activation of fast skeletal muscle troponin as a potential therapeutic approach for treating neuromuscular diseasesNature Medicine, 2012
- The role of myostatin in muscle wasting: an overviewJournal of Cachexia, Sarcopenia and Muscle, 2011
- Endplate structure and parameters of neuromuscular transmission in sporadic centronuclear myopathy associated with myastheniaNeuromuscular Disorders, 2011
- SIMAP—a comprehensive database of pre-calculated protein sequence similarities, domains, annotations and clustersNucleic Acids Research, 2009
- The vertebrate muscle Z-disc: sarcomere anchor for structure and signallingJournal of Muscle Research and Cell Motility, 2009
- Rescue of skeletal muscle α-actin–null mice by cardiac (fetal) α-actinJournal of Cell Biology, 2009
- Protein kinase A–dependent modulation of Ca2+ sensitivity in cardiac and fast skeletal muscles after reconstitution with cardiac troponinJournal of General Physiology, 2009
- Defective regulation of contractile function in muscle fibres carrying an E41K β‐tropomyosin mutationThe Journal of Physiology, 2008
- Complete genomic structure of the human nebulin gene and identification of alternatively spliced transcriptsEuropean Journal of Human Genetics, 2004