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Journal Abstract Search

242 related items for PubMed ID: 31266720

  • 1. Dilated cardiomyopathy and limb-girdle muscular dystrophy-dystroglycanopathy due to novel pathogenic variants in the DPM3 gene.
    Svahn J, Laforêt P, Vial C, Streichenberger N, Romero N, Bouchet-Séraphin C, Bruneel A, Dupré T, Seta N, Menassa R, Michel-Calemard L, Stojkovic T.
    Neuromuscul Disord; 2019 Jul; 29(7):497-502. PubMed ID: 31266720
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  • 2. A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy.
    Van den Bergh PYK, Sznajer Y, Van Parys V, van Tol W, Wevers RA, Lefeber DJ, Xu L, Lek M, MacArthur DG, Johnson K, Phillips L, Töpf A, Straub V.
    Neuromuscul Disord; 2017 Nov; 27(11):1043-1046. PubMed ID: 28803818
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  • 4. Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy.
    Yang AC, Ng BG, Moore SA, Rush J, Waechter CJ, Raymond KM, Willer T, Campbell KP, Freeze HH, Mehta L.
    Mol Genet Metab; 2013 Nov; 110(3):345-351. PubMed ID: 23856421
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  • 6. DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.
    Barone R, Aiello C, Race V, Morava E, Foulquier F, Riemersma M, Passarelli C, Concolino D, Carella M, Santorelli F, Vleugels W, Mercuri E, Garozzo D, Sturiale L, Messina S, Jaeken J, Fiumara A, Wevers RA, Bertini E, Matthijs G, Lefeber DJ.
    Ann Neurol; 2012 Oct; 72(4):550-8. PubMed ID: 23109149
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  • 10. A mutation in mannose-phosphate-dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy.
    van Tol W, Ashikov A, Korsch E, Abu Bakar N, Willemsen MA, Thiel C, Lefeber DJ.
    JIMD Rep; 2019 Nov; 50(1):31-39. PubMed ID: 31741824
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  • 11. ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies.
    Cirak S, Foley AR, Herrmann R, Willer T, Yau S, Stevens E, Torelli S, Brodd L, Kamynina A, Vondracek P, Roper H, Longman C, Korinthenberg R, Marrosu G, Nürnberg P, UK10K Consortium, Michele DE, Plagnol V, Hurles M, Moore SA, Sewry CA, Campbell KP, Voit T, Muntoni F.
    Brain; 2013 Jan; 136(Pt 1):269-81. PubMed ID: 23288328
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  • 12. Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.
    Carss KJ, Stevens E, Foley AR, Cirak S, Riemersma M, Torelli S, Hoischen A, Willer T, van Scherpenzeel M, Moore SA, Messina S, Bertini E, Bönnemann CG, Abdenur JE, Grosmann CM, Kesari A, Punetha J, Quinlivan R, Waddell LB, Young HK, Wraige E, Yau S, Brodd L, Feng L, Sewry C, MacArthur DG, North KN, Hoffman E, Stemple DL, Hurles ME, van Bokhoven H, Campbell KP, Lefeber DJ, UK10K Consortium, Lin YY, Muntoni F.
    Am J Hum Genet; 2013 Jul 11; 93(1):29-41. PubMed ID: 23768512
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  • 13. Whole exome sequencing identified a novel DAG1 mutation in a patient with rare, mild and late age of onset muscular dystrophy-dystroglycanopathy.
    Dai Y, Liang S, Dong X, Zhao Y, Ren H, Guan Y, Yin H, Li C, Chen L, Cui L, Banerjee S.
    J Cell Mol Med; 2019 Feb 11; 23(2):811-818. PubMed ID: 30450679
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  • 14. Three new cases of dilated cardiomyopathy caused by mutations in LMNA gene.
    Sivitskaya LN, Danilenko NG, Vaikhanskaya TG, Kurushka TV, Davydenko OG.
    Acta Myol; 2017 Dec 11; 36(4):207-212. PubMed ID: 29770364
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  • 15. A fourth case of POMT2-related limb girdle muscle dystrophy with mild reduction of α-dystroglycan glycosylation.
    Saredi S, Gibertini S, Ardissone A, Fusco I, Zanotti S, Blasevich F, Morandi L, Moroni I, Mora M.
    Eur J Paediatr Neurol; 2014 May 11; 18(3):404-8. PubMed ID: 24183756
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  • 17. Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation.
    Puckett RL, Moore SA, Winder TL, Willer T, Romansky SG, Covault KK, Campbell KP, Abdenur JE.
    Neuromuscul Disord; 2009 May 11; 19(5):352-6. PubMed ID: 19342235
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  • 18. Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy.
    Godfrey C, Escolar D, Brockington M, Clement EM, Mein R, Jimenez-Mallebrera C, Torelli S, Feng L, Brown SC, Sewry CA, Rutherford M, Shapira Y, Abbs S, Muntoni F.
    Ann Neurol; 2006 Nov 11; 60(5):603-610. PubMed ID: 17044012
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