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
Myosin ATPase inhibition fails to rescue the metabolically dysregulated proteome of nebulin-deficient muscle.
Laitila J et al.
The Journal of Physiology, 2024
Marked neuropsychiatric involvement and dysmorphic features in nemaline myopathy.
Nóbrega PR et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2024
Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization.
Gurgel-Giannetti J et al.
International Journal of Molecular Sciences, 2022
An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families.
Juntas Morales R et al.
Genes, 2021
34440373 (PubMed )
Supplement: genes-12-01199-s001.zip › MORALES_et_al.__Supplemental_table_2.pdf
Evaluating next-generation sequencing in neuromuscular diseases with neonatal respiratory distress.
François-Heude MC et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2021
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