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A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy.
De Cid R, Ben Yaou R, Roudaut C, Charton K, Baulande S, Leturcq F, Romero NB, Malfatti E, Beuvin M, Vihola A, Criqui A, Nelson I, Nectoux J, Ben Aim L, Caloustian C, Olaso R, Udd B, Bonne G, Eymard B, Richard I. De Cid R, et al. Among authors: charton k. Neurology. 2015 Dec 15;85(24):2126-35. doi: 10.1212/WNL.0000000000002200. Epub 2015 Nov 18. Neurology. 2015. PMID: 26581302 Free PMC article.
Diagnostic anoctamin-5 protein defect in patients with ANO5-mutated muscular dystrophy.
Vihola A, Luque H, Savarese M, Penttilä S, Lindfors M, Leturcq F, Eymard B, Tasca G, Brais B, Conte T, Charton K, Richard I, Udd B. Vihola A, et al. Among authors: charton k. Neuropathol Appl Neurobiol. 2018 Aug;44(5):441-448. doi: 10.1111/nan.12410. Epub 2017 Jun 6. Neuropathol Appl Neurobiol. 2018. PMID: 28489263
RNA-targeting approaches for neuromuscular diseases.
Le Roy F, Charton K, Lorson CL, Richard I. Le Roy F, et al. Among authors: charton k. Trends Mol Med. 2009 Dec;15(12):580-91. doi: 10.1016/j.molmed.2009.10.005. Epub 2009 Nov 10. Trends Mol Med. 2009. PMID: 19906562 Review.
Titin splicing regulates cardiotoxicity associated with calpain 3 gene therapy for limb-girdle muscular dystrophy type 2A.
Lostal W, Roudaut C, Faivre M, Charton K, Suel L, Bourg N, Best H, Smith JE, Gohlke J, Corre G, Li X, Elbeck Z, Knöll R, Deschamps JY, Granzier H, Richard I. Lostal W, et al. Among authors: charton k. Sci Transl Med. 2019 Nov 27;11(520):eaat6072. doi: 10.1126/scitranslmed.aat6072. Sci Transl Med. 2019. PMID: 31776291 Free PMC article.
19 results