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Journal Abstract Search

155 related items for PubMed ID: 19472918

  • 1. Candidate-gene testing for orphan limb-girdle muscular dystrophies.
    Aurino S, Piluso G, Saccone V, Cacciottolo M, D'Amico F, Dionisi M, Totaro A, Belsito A, Di Vicino U, Nigro V.
    Acta Myol; 2008 Dec; 27(3):90-7. PubMed ID: 19472918
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  • 2. Frequency of LGMD gene mutations in Italian patients with distinct clinical phenotypes.
    Fanin M, Nascimbeni AC, Aurino S, Tasca E, Pegoraro E, Nigro V, Angelini C.
    Neurology; 2009 Apr 21; 72(16):1432-5. PubMed ID: 19380703
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  • 3. Elucidation of the Genetic Cause in Dutch Limb Girdle Muscular Dystrophy Families: A 27-Year's Journey.
    Ten Dam L, de Visser M, Ginjaar IB, van Duyvenvoorde HA, van Koningsbruggen S, van der Kooi AJ.
    J Neuromuscul Dis; 2021 Apr 21; 8(2):261-272. PubMed ID: 33386810
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  • 7. Exome analysis of two limb-girdle muscular dystrophy families: mutations identified and challenges encountered.
    McDonald KK, Stajich J, Blach C, Ashley-Koch AE, Hauser MA.
    PLoS One; 2012 Apr 21; 7(11):e48864. PubMed ID: 23155419
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  • 8. Beta-sarcoglycan gene mutations in Turkey.
    Balci B, Wilichowski E, Haliloğlu G, Talim B, Aurino S, Kremer E, Ebinger F, Senbil N, Anlar B, Kale G, Nigro V, Topaloğlu H, Bonnemann C, Dinçer P.
    Acta Myol; 2004 Dec 21; 23(3):154-8. PubMed ID: 15938573
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  • 13. Transportin 3 (TNPO3) and related proteins in limb girdle muscular dystrophy D2 muscle biopsies: A morphological study and pathogenetic hypothesis.
    Costa R, Rodia MT, Vianello S, Santi S, Lattanzi G, Angelini C, Pegoraro E, Cenacchi G.
    Neuromuscul Disord; 2020 Aug 21; 30(8):685-692. PubMed ID: 32690349
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  • 15. Clinical, pathological, imaging, and genetic characterization in a Taiwanese cohort with limb-girdle muscular dystrophy.
    Liang WC, Jong YJ, Wang CH, Wang CH, Tian X, Chen WZ, Kan TM, Minami N, Nishino I, Wong LC.
    Orphanet J Rare Dis; 2020 Jun 23; 15(1):160. PubMed ID: 32576226
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  • 17. Exome sequencing as a second-tier diagnostic approach for clinically suspected dysferlinopathy patients.
    Bartoli M, Desvignes JP, Nicolas L, Martin K.
    Muscle Nerve; 2014 Dec 23; 50(6):1007-10. PubMed ID: 25046369
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