Below are the most recent publications written about "Muscular Dystrophy, Facioscapulohumeral" by people in Profiles.
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Salsi V, Vattemi GNA, Tupler RG. The FSHD jigsaw: are we placing the tiles in the right position? Curr Opin Neurol. 2023 10 01; 36(5):455-463.
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Knox RN, Eidahl JO, Wallace LM, Choudury SG, Rashnonejad A, Daman K, Guggenbiller MJ, Saad NY, Hoover ME, Zhang L, Branson OE, Emerson CP, Freitas MA, Harper SQ. Post-Translational Modifications of the DUX4 Protein Impact Toxic Function in FSHD Cell Models. Ann Neurol. 2023 08; 94(2):398-413.
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Brennan CM, Hill AS, St Andre M, Li X, Madeti V, Breitkopf S, Garren S, Xue L, Gilbert T, Hadjipanayis A, Monetti M, Emerson CP, Moccia R, Owens J, Christoforou N. DUX4 expression activates JNK and p38 MAP kinases in myoblasts. Dis Model Mech. 2022 11 01; 15(11).
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Pini S, Napoli FM, Tagliafico E, La Marca A, Bertucci E, Salsi V, Tupler R. De novo variants and recombination at 4q35: Hints for preimplantation genetic testing in facioscapulohumeral muscular dystrophy. Clin Genet. 2023 02; 103(2):242-246.
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Mellion ML, Widholm P, Karlsson M, Ahlgren A, Tawil R, Wagner KR, Statland JM, Wang L, Shieh PB, van Engelen BGM, Kools J, Ronco L, Odueyungbo A, Jiang J, Han JJ, Hatch M, Towles J, Leinhard OD, Cadavid D. Quantitative Muscle Analysis in FSHD Using Whole-Body Fat-Referenced MRI: Composite Scores for Longitudinal and Cross-sectional Analysis. Neurology. 2022 08 30; 99(9):e877-e889.
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Widholm P, Ahlgren A, Karlsson M, Romu T, Tawil R, Wagner KR, Statland JM, Wang LH, Shieh PB, van Engelen BGM, Cadavid D, Ronco L, Odueyungbo AO, Jiang JG, Mellion ML, Dahlqvist Leinhard O. Quantitative muscle analysis in facioscapulohumeral muscular dystrophy using whole-body fat-referenced MRI: Protocol development, multicenter feasibility, and repeatability. Muscle Nerve. 2022 08; 66(2):183-192.
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Ghasemi M, Emerson CP, Hayward LJ. Outcome Measures in Facioscapulohumeral Muscular Dystrophy Clinical Trials. Cells. 2022 02 16; 11(4).
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Guo D, Daman K, Chen JJ, Shi MJ, Yan J, Matijasevic Z, Rickard AM, Bennett MH, Kiselyov A, Zhou H, Bang AG, Wagner KR, Maehr R, King OD, Hayward LJ, Emerson CP. iMyoblasts for ex vivo and in vivo investigations of human myogenesis and disease modeling. Elife. 2022 01 25; 11.
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Jagannathan S, de Greef JC, Hayward LJ, Yokomori K, Gabellini D, Mul K, Sacconi S, Arjomand J, Kinoshita J, Harper SQ. Meeting report: the 2021 FSHD International Research Congress. Skelet Muscle. 2022 01 17; 12(1):1.
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Bettio C, Salsi V, Orsini M, Calanchi E, Magnotta L, Gagliardelli L, Kinoshita J, Bergamaschi S, Tupler R. The Italian National Registry for FSHD: an enhanced data integration and an analytics framework towards Smart Health Care and Precision Medicine for a rare disease. Orphanet J Rare Dis. 2021 11 04; 16(1):470.