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
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
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
A childhood-onset nemaline myopathy caused by novel heterozygote variants in the nebulin gene with literature review.
Wen Q et al.
Acta Neurologica Belgica, 2020
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
Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy.
Lawlor MW et al.
Skeletal Muscle, 2011
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