Associated Papers
Integrated single-cell functional-proteomic profiling reveals a shift in myofibre specificity in human nemaline myopathy: A proof-of-principle study.
Seaborne RAE et al.
The Journal of Physiology, 2025
Human skeletal muscle fiber heterogeneity beyond myosin heavy chains.
Moreno-Justicia R et al.
Nature Communications, 2025
39971958 (PubMed )
Supplement: 41467_2025_56896_MOESM1_ESM.pdf
A rare TNNT1 gene variant causing creatine kinase elevation in nemaline myopathy: c.271_273del (p.Lys91del).
Yavaş C et al.
Genes & Genomics, 2024
WiTNNess: An international natural history study of infantile-onset TNNT1 myopathy.
Strauss KA et al.
Annals of Clinical and Translational Neurology, 2023
Clinical and genetic features of infancy-onset congenital myopathies from a Chinese paediatric centre.
Zhang Y et al.
Bmc Pediatrics, 2022
'Amish Nemaline Myopathy' in 2 Italian siblings harbouring a novel homozygous mutation in Troponin-I gene.
D'Amico A et al.
Neuromuscular Disorders : Nmd, 2019
Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.
Crowgey EL et al.
The Journal of Molecular Diagnostics : Jmd, 2019
31028937 (PubMed )
Supplement: mmc1.xlsx › SuppTable1_VariantsPanel
TNNT1 nemaline myopathy: natural history and therapeutic frontier.
Fox MD et al.
Human Molecular Genetics, 2018
Genetic heritage of the Old Order Mennonites of southeastern Pennsylvania.
Puffenberger EG
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2003
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