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
Nemaline myopathy: reclassification of previously reported variants according to ACMG guidelines, and report of novel genetic variants.
Haghighi A et al.
European Journal of Human Genetics : Ejhg, 2023
Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders.
Sakaguchi N et al.
Npj Genomic Medicine, 2022
35304488 (PubMed )
Supplement: 41525_2022_294_MOESM2_ESM.xlsx › Table_1
Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy.
Ross JA et al.
Acta Neuropathologica, 2019
A recurrent copy number variation of the NEB triplicate region: only revealed by the targeted nemaline myopathy CGH array.
Kiiski K et al.
European Journal of Human Genetics : Ejhg, 2016
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