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Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure.
Pfeffer G, Barresi R, Wilson IJ, Hardy SA, Griffin H, Hudson J, Elliott HR, Ramesh AV, Radunovic A, Winer JB, Vaidya S, Raman A, Busby M, Farrugia ME, Ming A, Everett C, Emsley HC, Horvath R, Straub V, Bushby K, Lochmüller H, Chinnery PF, Sarkozy A. Pfeffer G, et al. Among authors: raman a. J Neurol Neurosurg Psychiatry. 2014 Mar;85(3):331-8. doi: 10.1136/jnnp-2012-304728. Epub 2013 Mar 13. J Neurol Neurosurg Psychiatry. 2014. PMID: 23486992 Free PMC article.
ROSIE: AI generation of multiplex immunofluorescence staining from histopathology images.
Wu E, Bieniosek M, Wu Z, Thakkar N, Charville GW, Makky A, Schürch C, Huyghe JR, Peters U, Li CI, Li L, Giba H, Behera V, Raman A, Trevino AE, Mayer AT, Zou J. Wu E, et al. Among authors: raman a. bioRxiv [Preprint]. 2024 Nov 18:2024.11.10.622859. doi: 10.1101/2024.11.10.622859. bioRxiv. 2024. PMID: 39605711 Free PMC article. Preprint.
533 results