Associated Papers
Natural History, Phenotype Spectrum and Clinical Outcomes of Desmin (DES)-Associated Cardiomyopathy.
Asatryan B et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Pathogenic Mutations and Putative Phenotype-Affecting Variants in Polish Myofibrillar Myopathy Patients.
Potulska-Chromik A et al.
Journal of Clinical Medicine, 2021
Usefulness of comprehensive targeted multigene panel sequencing for neuromuscular disorders in Korean patients.
Park J et al.
Molecular Genetics & Genomic Medicine, 2019
Myofibrillar myopathy in the genomic context.
Fichna JP et al.
Journal of Applied Genetics, 2018
Molecular insights into cardiomyopathies associated with desmin (DES) mutations.
Brodehl A et al.
Biophysical Reviews, 2018
Abnormal spontaneous activity in primary myopathic disorders.
Nojszewska M et al.
Muscle & Nerve, 2017
Two desmin gene mutations associated with myofibrillar myopathies in Polish families.
Fichna JP et al.
Plos One, 2014
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