Associated Papers
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
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
Myosin ATPase inhibition fails to rescue the metabolically dysregulated proteome of nebulin-deficient muscle.
Laitila J et al.
The Journal of Physiology, 2024
Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes-phenotypes correlations.
de Feraudy Y et al.
Genome Medicine, 2024
38982518 (PubMed )
Supplement: 13073_2024_1353_MOESM1_ESM.xlsx › Feuil2
A patient with slowly progressive adult-onset nemaline myopathy and novel compound heterozygous mutations in the nebulin gene.
Tsunoda K et al.
Journal of the Neurological Sciences, 2017
Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype.
Malfatti E et al.
Acta Neuropathologica Communications, 2014
An integrated diagnosis strategy for congenital myopathies.
Böhm J et al.
Plos One, 2013
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