Below are the most recent publications written about "Muscular Dystrophy, Facioscapulohumeral" by people in Profiles.
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Tawil R, Wagner KR, Hamel JI, Leung DG, Statland JM, Wang LH, Genge A, Sacconi S, Lochm?ller H, Reyes-Leiva D, Diaz-Manera J, Alonso-Perez J, Muelas N, Vilchez JJ, Pestronk A, Gibson S, Goyal NA, Hayward LJ, Johnson N, LoRusso S, Freimer M, Shieh PB, Subramony SH, van Engelen B, Kools J, Leinhard OD, Widholm P, Morabito C, Moxham CM, Cadavid D, Mellion ML, Odueyungbo A, Tracewell WG, Accorsi A, Ronco L, Gould RJ, Shoskes J, Rojas LA, Jiang JG. Safety and efficacy of losmapimod in facioscapulohumeral muscular dystrophy (ReDUX4): a randomised, double-blind, placebo-controlled phase 2b trial. Lancet Neurol. 2024 May; 23(5):477-486.
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Cohen J, Huang S, Koczwara KE, Woods KT, Ho V, Woodman KG, Arbiser JL, Daman K, Lek M, Emerson CP, DeSimone AM. Flavones provide resistance to DUX4-induced toxicity via an mTor-independent mechanism. Cell Death Dis. 2023 11 16; 14(11):749.
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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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Campbell AE, Arjomand J, King OD, Tawil R, Jagannathan S. A Targeted Approach for Evaluating DUX4-Regulated Proteins as Potential Serum Biomarkers for Facioscapulohumeral Muscular Dystrophy Using Immunoassay Proteomics. J Neuromuscul Dis. 2023; 10(6):1031-1040.
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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).