Publication Library
Note: This is a work in progress, please return again soon for an updated listing
Congenital Myopathy:

Titin
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The constantly evolving spectrum of phenotypes in titinopathies - will it ever stop?, Udd, 2020
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Genetic Dilated Cardiomyopathy Due to TTN Variants without Known Familial Disease, Brown, 2020
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Broad Genetic Testing in a Clinical Setting Uncovers a High Prevalence of Titin Loss-of-Function Variants in Very Early-Onset Atrial Fibrillation, Goodyear, 2020
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Making sense of missense variants in TTN-related congenital myopathies, Rees, 2020
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Prevalence of TTN mutations in patients with dilated cardiomyopathy : A meta-analysis, Fang, 2020
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Upregulation of Yy1 Suppresses Dilated Cardiomyopathy caused by Ttn insufficiency, Liao, 2020
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Discovery of TITIN Gene Truncating Variant Mutations and 5-year Outcomes in Patients with Non-Ischemic Dilated Cardiomyopathy, Anderson, 2020
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Titinopathy, an atypical respiratory failure, Morais, 2020
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Regulation of titin-based cardiac stiffness by unfolded domain oxidation (UnDOx), Loescher, 2020
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Maintenance of sarcomeric integrity in adult muscle cells crucially depends on Z-disc anchored titin, Swist, 2020
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Modifications of Titin Contribute to the Progression of Cardiomyopathy and Represent a Therapeutic Target for Treatment of Heart Failure, Tharp, 2020
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Genotype-phenotype correlations in recessive titinopathies, Savarese, 2020
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Identification of a Novel titin-cap/telethonin Mutation in a Portuguese Family With Hypertrophic Cardiomyopathy, Toste, 2020
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N2A Titin: Signaling Hub and Mechanical Switch in Skeletal Muscle, Nishikawa-2020
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Prognostic implications of pathogenic truncating variants in the TTN gene, Pena, 2020
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Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10, Khan, 2019
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Atrial Fibrillation
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Titin in muscular dystrophy and cardiomyopathy: Urinary titin as a novel marker, Misaka, 2019
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Understanding Titin Variants in the Age of Next-Generation Sequencing—A Titanic Challenge, Bonnemann
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Engineering protein polymers of ultrahigh molecular weight via supramolecular polymerization: towards mimicking the giant muscle protein titin, Want, 2019
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Novel missense variant in TTN cosegregating with familial atrioventricular block, Liu, 2019
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End-diastolic force pre-activates cardiomyocytes and determines contractile force; role of titin and calcium, Najafi, 2019
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Novel TTN mutations and muscle imaging characteristics in congenital titinopathy, Yu, 2019
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Two novel mutations in TTN of a patient with congenital myopathy: A case report, Jang, 2019
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Association of Titin-Truncating Genetic Variants With Life threatening Cardiac Arrhythmias in Patients With Dilated Cardiomyopathy and Implanted Defibrillators, Corden, 2019
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Prevalence of TTN mutations in patients with dilated cardiomyopathy : A meta-analysis, Fang, 2019
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The giant titin: how to evaluate its role in cardiomyopathies, Azad, 2019
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Titin fragment in urine: A noninvasive biomarker of muscle degradation, Matsuo, 2019
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Recessive mutations in proximal I-band of TTN gene cause severe congenital multi-minicore disease without cardiac involvement, Ge, 2019
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Diaphragm contractile weakness due to altered mechanical loading: role of titin, Van Der Pijl, 2019
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Titin in muscular dystrophy and cardiomyopathy: Urinary titin as a novel marker, Misaka, 2019
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A homozygous TTN gene variant associated with lethal congenital contracture syndrome, Chervins, 2019
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Z-band and M-band titin splicing and regulation by RNA binding, Chen, 2018
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Centronuclear myopathy with cardiomyopathy due to recessive titinopathy, Martinez-Thompson, 2018
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Association Between Titin Loss-of-Function Variants and Early- Onset Atrial Fibrillation, Choi, 2018
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Titin as a force generating muscle protein under regulatory control motif 20 in striated muscles, Freundt, 2018
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Dilated Cardiomyopathy Factsheet
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Titin Variants in Dilated Cardiomyopathy
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A-Band Titin Truncation in Zebrafish Causes Dilated Cardiomyopathy and Hemodynamic Stress Intolerance, Huttner, 2018
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Congenital titinopathy: Comprehensive characterisation and pathogenic insights, Oates, 2018
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An Extended Targeted Copy Number Variation Detection Array Including 187 Genes for the Diagnostics of Neuromuscular Disorders, Sagath, 2018
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A homozygous TTN gene variant associated with lethal congenital contracture syndrome, Chervinsky, 2018
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Titin-based mechanosensing modulates muscle hypertrophy, van der Pijl, 2018
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Understanding Titin Variants in the Age of Next-Generation Sequencing-A Titanic Challenge, Bonnemann, 2018