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2025

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PubMed for id: 815551

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Page 1
Congenital Titinopathies Linked to Mutations in TTN Metatranscript-Only Exons.
Perrin A, Garcia-Uzquiano R, Stojkovic T, Tard C, Metay C, Bergougnoux A, Van Goethem C, Thèze C, Larrieux M, Faure-Gautron H, Laporte J, Lefebvre G, Krahn M, Juntas-Morales R, Titin's Network Collaborators, Koenig M, Quijano-Roy S, Carlier RY, Cossée M. Perrin A, et al. Int J Mol Sci. 2024 Dec 3;25(23):12994. doi: 10.3390/ijms252312994. Int J Mol Sci. 2024. PMID: 39684706 Free PMC article.
Immune-Mediated Megaconial Myopathy: A Novel Subtype of Autoimmune Myopathy.
Santilli AR, Ni O, Milone M, Selcen D, Mehrabyan AC, Seth A, Hsieh C, Raslan WF, Alkhalifah MM, Alenezi RM, Nicolau S, Soontrapa P, Liewluck T. Santilli AR, et al. Neurology. 2024 Nov 26;103(10):e210001. doi: 10.1212/WNL.0000000000210001. Epub 2024 Oct 30. Neurology. 2024. PMID: 39475687
500 results