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Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy.
Feichtinger RG, Mucha BE, Hengel H, Orfi Z, Makowski C, Dort J, D'Anjou G, Nguyen TTM, Buchert R, Juenger H, Freisinger P, Baumeister S, Schoser B, Ahting U, Keimer R, Nguyen CE, Fabre P, Gauthier J, Miguet M, Lopes F, AlHakeem A, AlHashem A, Tabarki B, Kandaswamy KK, Bauer P, Steinbacher P, Prokisch H, Sturm M, Strom TM, Ellezam B, Mayr JA, Schöls L, Michaud JL, Campeau PM, Haack TB, Dumont NA. Feichtinger RG, et al. Among authors: dort j. Genet Med. 2019 Nov;21(11):2521-2531. doi: 10.1038/s41436-019-0532-z. Epub 2019 May 16. Genet Med. 2019. PMID: 31092906 Free article.
N-acetylneuraminate pyruvate lyase controls sialylation of muscle glycoproteins essential for muscle regeneration and function.
Da Silva A, Dort J, Orfi Z, Pan X, Huang S, Kho I, Heckel E, Muscarnera G, van Vliet PP, Sturiale L, Messina A, Romeo DA, van Karnebeek CDM, Wen XY, Hinek A, Molina T, Andelfinger G, Ellezam B, Yamanaka Y, Olivos HJ, Morales CR, Joyal JS, Lefeber DJ, Garozzo D, Dumont NA, Pshezhetsky AV. Da Silva A, et al. Among authors: dort j. Sci Adv. 2023 Jun 30;9(26):eade6308. doi: 10.1126/sciadv.ade6308. Epub 2023 Jun 30. Sci Adv. 2023. PMID: 37390204 Free PMC article.
259 results