Associated Papers
The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.
Fernandez-Falgueras A et al.
Plos One, 2024
Finnish Parkinson's disease study integrating protein-protein interaction network data with exome sequencing analysis.
Siitonen A et al.
Scientific Reports, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Genetic epidemiology of titin-truncating variants in the etiology of dilated cardiomyopathy.
Tabish AM et al.
Biophysical Reviews, 2017
Increasing Role of Titin Mutations in Neuromuscular Disorders.
Savarese M et al.
Journal of Neuromuscular Diseases, 2016
Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.
Sanchez O et al.
Plos One, 2016
Rare Titin (TTN) Variants in Diseases Associated with Sudden Cardiac Death.
Campuzano O et al.
International Journal of Molecular Sciences, 2015
Broad-based molecular autopsy: a potential tool to investigate the involvement of subtle cardiac conditions in sudden unexpected death in infancy and early childhood.
Santori M et al.
Archives of Disease in Childhood, 2015
A rising titan: TTN review and mutation update.
Chauveau C et al.
Human Mutation, 2014
Mechano-signaling in heart failure.
Buyandelger B et al.
Pflugers Archiv : European Journal of Physiology, 2014
Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain.
Lange S et al.
Brain : a Journal of Neurology, 2014
Reply: Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain.
Pfeffer G et al.
Brain : a Journal of Neurology, 2014
Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain.
Hedberg C et al.
Brain : a Journal of Neurology, 2014
Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure.
Pfeffer G et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2014
Recessive TTN truncating mutations define novel forms of core myopathy with heart disease.
Chauveau C et al.
Human Molecular Genetics, 2014
Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins.
Toro C et al.
Bmc Neurology, 2013
A novel titin mutation in adult-onset familial dilated cardiomyopathy.
Yoskovitz G et al.
The American Journal of Cardiology, 2012
Titin mutation segregates with hereditary myopathy with early respiratory failure.
Pfeffer G et al.
Brain : a Journal of Neurology, 2012
Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin.
Ohlsson M et al.
Brain : a Journal of Neurology, 2012
An Italian case of hereditary myopathy with early respiratory failure (HMERF) not associated with the titin kinase domain R279W mutation.
Tasca G et al.
Neuromuscular Disorders : Nmd, 2010
Limb-girdle muscular dystrophy-associated protein diseases.
Broglio L et al.
The Neurologist, 2010
Muscle giants: molecular scaffolds in sarcomerogenesis.
Kontrogianni-Konstantopoulos A et al.
Physiological Reviews, 2009
Titin-based mechanical signalling in normal and failing myocardium.
Krüger M et al.
Journal of Molecular and Cellular Cardiology, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Sense and stretchability: the role of titin and titin-associated proteins in myocardial stress-sensing and mechanical dysfunction.
Linke WA
Cardiovascular Research, 2008
The kinase domain of titin controls muscle gene expression and protein turnover.
Lange S et al.
Science (new York, N.y.), 2005