The embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscle

Genotype-phenotype relationships in Freeman-Sheldon syndrome

(2014) Anita E. Beck et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Thin filament incorporation of an engineered cardiac troponin C variant (L48Q) enhances contractility in intact cardiomyocytes from healthy and infarcted hearts

(2014) Erik R. Feest et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Spectrum of mutations that cause distal arthrogryposis types 1 and 2B

(2013) Anita E. Beck et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Loss of actomyosin regulation in distal arthrogryposis myopathy due to mutant myosin binding protein-C slow

(2013) Maegen A. Ackermann et al.   FASEB JOURNAL

Contractility and kinetics of human fetal and human adult skeletal muscle

(2013) Alice W. Racca et al.   JOURNAL OF PHYSIOLOGY-LONDON

Transgenic overexpression of ribonucleotide reductase improves cardiac performance

(2013) S. G. Nowakowski et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Upregulation of cardiomyocyte ribonucleotide reductase increases intracellular 2 deoxy-ATP, contractility, and relaxation

(2011) F.S. Korte et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1

(2010) Christina A. Gurnett et al.   HUMAN MOLECULAR GENETICS

Calcium binding kinetics of troponin C strongly modulate cooperative activation and tension kinetics in cardiac muscle

(2010) Kareen L. Kreutziger et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Axial and Radial Forces of Cross-Bridges Depend on Lattice Spacing

(2010) C. David Williams et al.   PLoS Computational Biology

Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency

(2009) C. A.C. Ottenheijm et al.   HUMAN MOLECULAR GENETICS

Cell therapy enhances function of remote non-infarcted myocardium

(2009) Alicia Moreno-Gonzalez et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Functional diversity among a family of human skeletal muscle myosin motors

(2009) D. I. Resnicow et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Embryonic Myosin Heavy-Chain Mutations Cause Distal Arthrogryposis and Developmental Myosin Myopathy That Persists Postnatally

(2008) Homa Tajsharghi et al.   ARCHIVES OF NEUROLOGY

Thin filament proteins mutations associated with skeletal myopathies: Defective regulation of muscle contraction

(2008) Julien Ochala   JOURNAL OF MOLECULAR MEDICINE-JMM

Thin filament Ca2+binding properties and regulatory unit interactions alter kinetics of tension development and relaxation in rabbit skeletal muscle

(2008) Kareen L. Kreutziger et al.   JOURNAL OF PHYSIOLOGY-LONDON

Defective regulation of contractile function in muscle fibres carrying an E41K β-tropomyosin mutation

(2008) Julien Ochala et al.   JOURNAL OF PHYSIOLOGY-LONDON