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Publications by Norma Romero
Force-Sarcomere Length Relations in Patients With Thin Filament Myopathy Caused by Mutations in NEB, ACTA1, TPM2, TPM3, KBTBD13, KLHL40 and KLHL41
Biophysical Journal
Biophysics
1st ENMC European Meeting: THE EURO-NMD Pathology Working Group Recommended Standards for Muscle Pathology 7 December 2018, Amsterdam, the Netherlands
Neuromuscular Disorders
Child Health
Neurology
Pediatrics
Perinatology
Genetics
Related publications
KLHL40 Deficiency Destabilizes Thin Filament Proteins and Promotes Nemaline Myopathy
Journal of Clinical Investigation
Medicine
Sarcomere Length Dependence of the Force-Velocity Relation in Single Frog Muscle Fibers
Biophysical Journal
Biophysics
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy
American Journal of Human Genetics
Genetics
Sarcomere Mutations in Cardiomyopathy With Left Ventricular Hypertrabeculation
Circulation: Cardiovascular Genetics
Mutations in GMPPB Presenting With Pseudometabolic Myopathy
JIMD Reports
Internal Medicine
Genetics
Molecular Biology
Biochemistry
Endocrinology
Metabolism
Diabetes
Residual Force Enhancement Exceeds the Isometric Force at Optimal Sarcomere Length for Optimized Stretch Conditions
Journal of Applied Physiology
Medicine
Physiology
Sports Science
Sarcomere Gene Mutations in Hypertrophy and Heart Failure
Journal of Cardiovascular Translational Research
Genetics
Pharmaceutical Science
Cardiovascular Medicine
Molecular Medicine
Cardiology
Molecular Dynamics Studies of Single Point Mutations in the Cardiac Thin Filament
Biophysical Journal
Biophysics
Dynamin GTPase Regulation Is Altered by PH Domain Mutations Found in Centronuclear Myopathy Patients
EMBO Journal
Immunology
Molecular Biology
Biochemistry
Microbiology
Neuroscience
Medicine
Genetics
