Associated Papers
OXPHOS complex deficiency in congenital myopathy: A systematic review.
du Preez MJ et al.
European Journal of Clinical Investigation, 2025
Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions.
Sagath L et al.
European Journal of Human Genetics : Ejhg, 2025
40517164 (PubMed )
Supplement: 41431_2025_1891_MOESM3_ESM.xlsx › STable1._LOVD
Retrospective Cohort Analysis of Clinical, Molecular, and Histopathologic Characteristics of 275 Patients With Nemaline Myopathy.
Hildebrandt C et al.
Neurology. Genetics, 2025
40661861 (PubMed )
Supplement: Supplements.pdf
Iron Accumulation and Lipid Peroxidation in Cellular Models of Nemaline Myopathies.
López-Cabrera A et al.
International Journal of Molecular Sciences, 2025
Structural variation in nebulin and its implications on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions.
Sagath L et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
39802796 (PubMed )
Supplement: media-1.xlsx › STable1._LOVD
Characterization of NEB pathogenic variants in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effects.
Karimi E et al.
Acta Neuropathologica, 2024
Characterization of NEB mutations in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effects.
Karimi E et al.
Biorxiv : the Preprint Server for Biology, 2023
Actin Polymerization Defects Induce Mitochondrial Dysfunction in Cellular Models of Nemaline Myopathies.
Piñero-Pérez R et al.
Antioxidants (basel, Switzerland), 2023
Characterization of congenital myopathies at a Korean neuromuscular center.
Park YE et al.
Muscle & Nerve, 2018
Clinical and genetic diversity of nemaline myopathy from a single neuromuscular center in Korea.
Lee JM et al.
Journal of the Neurological Sciences, 2017
Select a paper to view details