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Science (New York, N.Y.)|April 2, 2005
The kinase domain of titin controls muscle gene expression and protein turnoverStephan Lange, Fengqing Xiang, Andrey Yakovenko, et al.
American Journal of Human Genetics|January 26, 2010
Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophiesVéronique Bolduc, Gareth Marlow, Kym M Boycott, et al.
Annals of Neurology|April 21, 2007
C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathyVirginie Carmignac, Mustafa A M Salih, Susana Quijano-Roy, et al.
Acta Neuropathologica Communications|March 22, 2023
Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variantNastasia Cardone, Melissa Moula, Rianne J Baelde, et al.
Quality of Life Research : an International Journal of Quality of Life Aspects of Treatment, Care and Rehabilitation|July 5, 2015
Construction of a Quality of Life Questionnaire for slowly progressive neuromuscular diseaseAntoine Dany, Coralie Barbe, Amandine Rapin, et al.
Human Molecular Genetics|June 11, 2015
Serum proteomic profiling reveals fragments of MYOM3 as potential biomarkers for monitoring the outcome of therapeutic interventions in muscular dystrophiesJérémy Rouillon, Jérôme Poupiot, Aleksandar Zocevic, et al.
Neurology|November 20, 2015
A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathyRafael De Cid, Rabah Ben Yaou, Carinne Roudaut, et al.
Science Advances|October 22, 2025
Lysosomal damage is a therapeutic target in Duchenne muscular dystrophyAbbass Jaber, Laura Palmieri, Rania Bakour, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|February 4, 2018
Rescue of GSDIII Phenotype with Gene Transfer Requires Liver- and Muscle-Targeted GDE ExpressionPatrice Vidal, Serena Pagliarani, Pasqualina Colella, et al.
European Heart Journal|July 14, 2023
Cardiometabolic risk management: insights from a European Society of Cardiology Cardiovascular Round TableFrancesco Cosentino, Subodh Verma, Philip Ambery, et al.
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