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Journal Abstract Search

160 related items for PubMed ID: 22980764

  • 1. Selective pattern of muscle involvement seen in distal muscular dystrophy associated with anoctamin 5 mutations: a follow-up muscle MRI study.
    Mahjneh I, Bashir R, Kiuru-Enari S, Linssen W, Lamminen A, Visser Md.
    Neuromuscul Disord; 2012 Oct 01; 22 Suppl 2():S130-6. PubMed ID: 22980764
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  • 2. Miyoshi-like distal myopathy with mutations in anoctamin 5 gene.
    Bouquet F, Cossée M, Béhin A, Deburgrave N, Romero N, Leturcq F, Eymard B.
    Rev Neurol (Paris); 2012 Feb 01; 168(2):135-41. PubMed ID: 22336395
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  • 3. Comparing clinical data and muscle imaging of DYSF and ANO5 related muscular dystrophies.
    Ten Dam L, van der Kooi AJ, Rövekamp F, Linssen WH, de Visser M.
    Neuromuscul Disord; 2014 Dec 01; 24(12):1097-102. PubMed ID: 25176504
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  • 4. ANO5 mutations in the Dutch limb girdle muscular dystrophy population.
    van der Kooi AJ, Ten Dam L, Frankhuizen WS, Straathof CS, van Doorn PA, de Visser M, Ginjaar IB.
    Neuromuscul Disord; 2013 Jun 01; 23(6):456-60. PubMed ID: 23607914
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  • 5. Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and Miyoshi type of muscular dystrophy.
    Schessl J, Kress W, Schoser B.
    Muscle Nerve; 2012 May 01; 45(5):740-2. PubMed ID: 22499103
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  • 6. 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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  • 7. 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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  • 9. 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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  • 10. Whole-Body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutations.
    Jarraya M, Quijano-Roy S, Monnier N, Béhin A, Avila-Smirnov D, Romero NB, Allamand V, Richard P, Barois A, May A, Estournet B, Mercuri E, Carlier PG, Carlier RY.
    Neuromuscul Disord; 2012 Oct 01; 22 Suppl 2():S137-47. PubMed ID: 22980765
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  • 16. Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies.
    Bolduc V, Marlow G, Boycott KM, Saleki K, Inoue H, Kroon J, Itakura M, Robitaille Y, Parent L, Baas F, Mizuta K, Kamata N, Richard I, Linssen WH, Mahjneh I, de Visser M, Bashir R, Brais B.
    Am J Hum Genet; 2010 Feb 12; 86(2):213-21. PubMed ID: 20096397
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  • 17. A novel MYH7 mutation with prominent paraspinal and proximal muscle involvement.
    Park JM, Kim YJ, Yoo JH, Hong YB, Park JH, Koo H, Chung KW, Choi BO.
    Neuromuscul Disord; 2013 Jul 12; 23(7):580-6. PubMed ID: 23707328
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  • 19. New phenotype and pathology features in MYH7-related distal myopathy.
    Tasca G, Ricci E, Penttilä S, Monforte M, Giglio V, Ottaviani P, Camastra G, Silvestri G, Udd B.
    Neuromuscul Disord; 2012 Jul 12; 22(7):640-7. PubMed ID: 22521714
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