Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

Michaela Yuen, Sarah A. Sandaradura, James J. Dowling, +54

Journal of Clinical Investigation

MechanobiologyThin FilamentsSystems BiologyDevelopmental BiologyEngineering +13

Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores

Nyamkhishig Sambuughin, Kyle S. Yau, Montse Olivé, +18

The American Journal of Human Genetics

Genetic DisorderGeneticsPathologyMolecular GeneticsCause Nemaline Myopathy +3

Nemaline Myopathy Caused by Mutations in the Muscle α-Skeletal-Actin Gene

Biljana Ilkovski, Sandra T. Cooper, Kristen L. Nowak, +13

The American Journal of Human Genetics

Muscle PhysiologyMuscle FunctionHealth SciencesMuscle InjurySkeletal Muscle +8

Clinical course correlates poorly with muscle pathology in nemaline myopathy

Monique M. Ryan, Biljana Ilkovski, Corinne D. Strickland, +12

Neurology

Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy

Rachel Susman, Susana Quijano-Roy, Nan Yang, +20

Neuromuscular Disorders

Mri PhenotypePathologyDegenerative DiseaseNeuropathologyMedicine +2

Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms

Biljana Ilkovski

Human Molecular Genetics

Muscle FunctionActa1 Nm PatientsMutant Actin IsoformsMolecular BiologyCytoskeleton +17

Defining α-skeletal and α-cardiac actin expression in human heart and skeletal muscle explains the absence of cardiac involvement in ACTA1 nemaline myopathy

Biljana Ilkovski, Sophie Clément, Caroline A. Sewry, +2

Neuromuscular Disorders

MechanobiologyCardiac MuscleMuscle PhysiologyCardiomyopathyKinesiology +9

Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization

Gina O’Grady, Heather Best, Tamar E. Sztal, +38

The American Journal of Human Genetics

Internalized NucleiMyofibrillar DisorganizationBiochemistryNatural SciencesPhysiology +1

Mutations in Contactin-1, a Neural Adhesion and Neuromuscular Junction Protein, Cause a Familial Form of Lethal Congenital Myopathy

Alison G. Compton, Douglas E. Albrecht, Jane T. Seto, +9

The American Journal of Human Genetics

Lethal Congenital MyopathyDevelopmental BiologyMendelian DisorderGenetic DisorderMedicine +10

Mutations in<i>PIGY</i>: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies

Biljana Ilkovski, Alistair T. Pagnamenta, Gina O’Grady, +21

Human Molecular Genetics