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Muscle & Nerve|July 29, 2024
Dominant stop-loss HNRNPA1 variants in juvenile-onset myopathyJohnnie Turner, Christine C Bruels, Audrey L Daugherty, et al.The Journal of Clinical Investigation|February 20, 2018
TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutationsYouJin Lee, Per Harald Jonson, Jaakko Sarparanta, et al.Brain : a Journal of Neurology|December 20, 2021
Forecasting stroke-like episodes and outcomes in mitochondrial diseaseYi Shiau Ng, Nichola Z Lax, Alasdair P Blain, et al.Ebiomedicine|March 7, 2018
MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant LoadYi Shiau Ng, Nichola Z Lax, Paul Maddison, et al.Human Mutation|April 23, 2013
ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutationAnna Sarkozy, Debbie Hicks, Judith Hudson, et al.Pageof 6