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Journal Abstract Search

199 related items for PubMed ID: 25864073

  • 1. Clinical and genetic features of anoctaminopathy in Saudi Arabia.
    Bohlega S, Monies DM, Abulaban AA, Murad HN, Alhindi HN, Meyer BF.
    Neurosciences (Riyadh); 2015 Apr; 20(2):173-7. PubMed ID: 25864073
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  • 5. Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5.
    Penttilä S, Palmio J, Suominen T, Raheem O, Evilä A, Muelas Gomez N, Tasca G, Waddell LB, Clarke NF, Barboi A, Hackman P, Udd B.
    Neurology; 2012 Mar 20; 78(12):897-903. PubMed ID: 22402862
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  • 7. Decreased Aerobic Capacity in ANO5-Muscular Dystrophy.
    Ylikallio E, Auranen M, Mahjneh I, Lamminen A, Kousi M, Träskelin AL, Muurinen T, Löfberg M, Salmi T, Paetau A, Lehesjoki AE, Piirilä P, Kiuru-Enari S.
    J Neuromuscul Dis; 2016 Nov 29; 3(4):475-485. PubMed ID: 27911336
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  • 8. A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy.
    Hicks D, Sarkozy A, Muelas N, Köehler K, Huebner A, Hudson G, Chinnery PF, Barresi R, Eagle M, Polvikoski T, Bailey G, Miller J, Radunovic A, Hughes PJ, Roberts R, Krause S, Walter MC, Laval SH, Straub V, Lochmüller H, Bushby K.
    Brain; 2011 Jan 29; 134(Pt 1):171-182. PubMed ID: 21186264
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  • 9. Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.
    Ghaoui R, Cooper ST, Lek M, Jones K, Corbett A, Reddel SW, Needham M, Liang C, Waddell LB, Nicholson G, O'Grady G, Kaur S, Ong R, Davis M, Sue CM, Laing NG, North KN, MacArthur DG, Clarke NF.
    JAMA Neurol; 2015 Dec 29; 72(12):1424-32. PubMed ID: 26436962
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  • 11. Muscle MRI findings in limb girdle muscular dystrophy type 2L.
    Sarkozy A, Deschauer M, Carlier RY, Schrank B, Seeger J, Walter MC, Schoser B, Reilich P, Leturq F, Radunovic A, Behin A, Laforet P, Eymard B, Schreiber H, Hicks D, Vaidya SS, Gläser D, Carlier PG, Bushby K, Lochmüller H, Straub V.
    Neuromuscul Disord; 2012 Oct 01; 22 Suppl 2():S122-9. PubMed ID: 22980763
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  • 12. Phenotypic Spectrum of Myopathies with Recessive Anoctamin-5 Mutations.
    Vázquez J, Lefeuvre C, Escobar RE, Luna Angulo AB, Miranda Duarte A, Delia Hernandez A, Brisset M, Carlier RY, Leturcq F, Durand-Canard MC, Nicolas G, Laforet P, Malfatti E.
    J Neuromuscul Dis; 2020 Oct 01; 7(4):443-451. PubMed ID: 32925086
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  • 13. ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation.
    Sarkozy A, Hicks D, Hudson J, Laval SH, Barresi R, Hilton-Jones D, Deschauer M, Harris E, Rufibach L, Hwang E, Bashir R, Walter MC, Krause S, van den Bergh P, Illa I, Pénisson-Besnier I, De Waele L, Turnbull D, Guglieri M, Schrank B, Schoser B, Seeger J, Schreiber H, Gläser D, Eagle M, Bailey G, Walters R, Longman C, Norwood F, Winer J, Muntoni F, Hanna M, Roberts M, Bindoff LA, Brierley C, Cooper RG, Cottrell DA, Davies NP, Gibson A, Gorman GS, Hammans S, Jackson AP, Khan A, Lane R, McConville J, McEntagart M, Al-Memar A, Nixon J, Panicker J, Parton M, Petty R, Price CJ, Rakowicz W, Ray P, Schapira AH, Swingler R, Turner C, Wagner KR, Maddison P, Shaw PJ, Straub V, Bushby K, Lochmüller H.
    Hum Mutat; 2013 Aug 01; 34(8):1111-8. PubMed ID: 23606453
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  • 14. First familial limb-girdle muscular dystrophy 2L in China: Clinical, imaging, pathological, and genetic features.
    Hu B, Xiong L, Zhou Y, Lu X, Xiong Q, Liu Q, Qi X, Ding W.
    Medicine (Baltimore); 2018 Sep 01; 97(38):e12506. PubMed ID: 30235762
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  • 15. Clinical and genetic characterization of limb girdle muscular dystrophy R7 telethonin-related patients from three unrelated Chinese families.
    Chen H, Xu G, Lin F, Jin M, Cai N, Qiu L, Ye Z, Wang L, Lin M, Wang N.
    Neuromuscul Disord; 2020 Feb 01; 30(2):137-143. PubMed ID: 32005491
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  • 16. Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort.
    de Bruyn A, Montagnese F, Holm-Yildiz S, Scharff Poulsen N, Stojkovic T, Behin A, Palmio J, Jokela M, De Bleecker JL, de Visser M, van der Kooi AJ, Ten Dam L, Domínguez González C, Maggi L, Gallone A, Kostera-Pruszczyk A, Macias A, Łusakowska A, Nedkova V, Olive M, Álvarez-Velasco R, Wanschitz J, Paradas C, Mavillard F, Querin G, Fernández-Eulate G, Quinlivan R, Walter MC, Depuydt CE, Udd B, Vissing J, Schoser B, Claeys KG.
    Brain; 2023 Sep 01; 146(9):3800-3815. PubMed ID: 36913258
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  • 19. Novel mutations in the Anoctamin 5 gene (ANO5) associated with limb-girdle muscular dystrophy 2L.
    Little AA, McKeever PE, Gruis KL.
    Muscle Nerve; 2013 Feb 01; 47(2):287-91. PubMed ID: 23169617
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