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Journal Abstract Search

678 related items for PubMed ID: 29478599

  • 1. Facioscapulohumeral muscular dystrophy.
    Tawil R.
    Handb Clin Neurol; 2018; 148():541-548. PubMed ID: 29478599
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  • 8. Facioscapulohumeral muscular dystrophy: molecular pathological advances and future directions.
    Statland JM, Tawil R.
    Curr Opin Neurol; 2011 Oct; 24(5):423-8. PubMed ID: 21734574
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  • 9. Homozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy.
    Hamanaka K, Šikrová D, Mitsuhashi S, Masuda H, Sekiguchi Y, Sugiyama A, Shibuya K, Lemmers RJLF, Goossens R, Ogawa M, Nagao K, Obuse C, Noguchi S, Hayashi YK, Kuwabara S, Balog J, Nishino I, van der Maarel SM.
    Neurology; 2020 Jun 09; 94(23):e2441-e2447. PubMed ID: 32467133
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  • 16. Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.
    Lemmers RJ, Tawil R, Petek LM, Balog J, Block GJ, Santen GW, Amell AM, van der Vliet PJ, Almomani R, Straasheijm KR, Krom YD, Klooster R, Sun Y, den Dunnen JT, Helmer Q, Donlin-Smith CM, Padberg GW, van Engelen BG, de Greef JC, Aartsma-Rus AM, Frants RR, de Visser M, Desnuelle C, Sacconi S, Filippova GN, Bakker B, Bamshad MJ, Tapscott SJ, Miller DG, van der Maarel SM.
    Nat Genet; 2012 Dec 09; 44(12):1370-4. PubMed ID: 23143600
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  • 18. Individual epigenetic status of the pathogenic D4Z4 macrosatellite correlates with disease in facioscapulohumeral muscular dystrophy.
    Jones TI, King OD, Himeda CL, Homma S, Chen JC, Beermann ML, Yan C, Emerson CP, Miller JB, Wagner KR, Jones PL.
    Clin Epigenetics; 2015 Dec 09; 7(1):37. PubMed ID: 25904990
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  • 19. Simultaneous measurement of the size and methylation of chromosome 4qA-D4Z4 repeats in facioscapulohumeral muscular dystrophy by long-read sequencing.
    Hiramuki Y, Kure Y, Saito Y, Ogawa M, Ishikawa K, Mori-Yoshimura M, Oya Y, Takahashi Y, Kim DS, Arai N, Mori C, Matsumura T, Hamano T, Nakamura K, Ikezoe K, Hayashi S, Goto Y, Noguchi S, Nishino I.
    J Transl Med; 2022 Nov 08; 20(1):517. PubMed ID: 36348371
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