Below are the most recent publications written about "Muscular Dystrophy, Facioscapulohumeral" by people in Profiles.
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Salsi V, Losi F, Fosso B, Ferrarini M, Pini S, Manfredi M, Vattemi G, Mongini T, Maggi L, Pesole G, Henras AK, Kaufman PD, McStay B, Tupler R. Nucleolar FRG2 lncRNAs inhibit rRNA transcription and cytoplasmic translation, linking FSHD to dysregulation of muscle-specific protein synthesis. Nucleic Acids Res. 2025 Jul 08; 53(13).
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Bareja N, Desai B, Vytopil M, Srinivasan J, Ghasemi M. Cancer and benign tumors in myotonic dystrophy, facioscapulohumeral muscular dystrophy, and oculopharyngeal muscular dystrophy: a 23-year, single-center, retrospective study. Acta Myol. 2025 Jun; 44(2):49-56.
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Salsi V, Losi F, Salani M, Kaufman PD, Tupler R. Posttranscriptional RNA stabilization of telomeric RNAs FRG2, DBE-T, D4Z4 at human 4q35 in response to genotoxic stress and D4Z4 macrosatellite repeat length. Clin Epigenetics. 2025 May 04; 17(1):73.
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Wong MM, Hachmer S, Gardner E, Runfola V, Arezza E, Megeney LA, Emerson CP, Gabellini D, Dilworth FJ. SMCHD1 activates the expression of genes required for the expansion of human myoblasts. Nucleic Acids Res. 2024 Sep 09; 52(16):9450-9462.
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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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D'Ambrosio ES, Chuang K, David WS, Amato AA, Gonzalez-Perez P. Frequency and type of cancers in myotonic dystrophy: A retrospective cross-sectional study. Muscle Nerve. 2023 08; 68(2):142-148.
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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.