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
Removal of MuRF1 Increases Muscle Mass in Nemaline Myopathy Models, but Does Not Provide Functional Benefits.
Lindqvist J et al.
International Journal of Molecular Sciences, 2022
Recent advances in nemaline myopathy.
Laitila J et al.
Neuromuscular Disorders : Nmd, 2021
Triggering typical nemaline myopathy with compound heterozygous nebulin mutations reveals myofilament structural changes as pathomechanism.
Lindqvist J et al.
Nature Communications, 2020
Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy.
Ross JA et al.
Acta Neuropathologica, 2019
Nemaline myopathies: a current view.
Sewry CA et al.
Journal of Muscle Research and Cell Motility, 2019
Myopathology in congenital myopathies.
Sewry CA et al.
Neuropathology and Applied Neurobiology, 2017
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
Two novel nebulin variants in an adult patient with congenital nemaline myopathy.
Güttsches AK et al.
Neuromuscular Disorders : Nmd, 2015
Mutation update: the spectra of nebulin variants and associated myopathies.
Lehtokari VL et al.
Human Mutation, 2014
Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations.
Marttila M et al.
Skeletal Muscle, 2014
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