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Publications by L Thierfelder

Sporadic Hypertrophic Cardiomyopathy Due to De Novo Myosin Mutations.

Journal of Clinical Investigation

English

Related publications

The Myosin Mesa and Hypertrophic Cardiomyopathy: Mutations to Mechanisms to Therapies

Biophysical Journal

English

Variable Cardiac Myosin Binding Protein-C Expression in the Myofilaments Due to MYBPC3 Mutations in Hypertrophic Cardiomyopathy

Journal of Molecular and Cellular Cardiology

Cardiovascular Medicine

Molecular Biology

English

Impact of Hypertrophic Cardiomyopathy Mutations on the Cardiac Myosin Super-Relaxed State

Biophysical Journal

English

Exome Sequencing to Identify De Novo Mutations in Sporadic ALS Trios

Nature Neuroscience

English

The Effect of Regulatory Light Chain Phosphorylation on Myosin Bearing Familial Hypertrophic Cardiomyopathy-Linked Mutations

Biophysical Journal

English

Impact of Hypertrophic Cardiomyopathy Mutations and the Role of Myosin Binding Protein-C on the Sequestered State of Myosin

Biophysical Journal

English

Mutations in the Β-Myosin Heavy Chain Gene in Southern Chinese Families With Hypertrophic Cardiomyopathy

Journal of International Medical Research

English

De Novo Mutations in Sporadic Deletional Duchenne Muscular Dystrophy (DMD) Cases

Experimental & Molecular Medicine

English

Molecular Pathology of Familial Hypertrophic Cardiomyopathy Caused by Mutations in the Cardiac Myosin Binding Protein C Gene.

Journal of Medical Genetics

English