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Journal Abstract Search

217 related items for PubMed ID: 24843231

  • 1. Limb girdle muscular dystrophy type 2L presenting as necrotizing myopathy.
    Schneider I, Stoltenburg G, Deschauer M, Winterholler M, Hanisch F.
    Acta Myol; 2014 May; 33(1):19-21. PubMed ID: 24843231
    [Abstract] [Full Text] [Related]

  • 2. 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; 134(Pt 1):171-182. PubMed ID: 21186264
    [Abstract] [Full Text] [Related]

  • 3. Anoctamin-5 Muscular Dystrophy: Report of Two Cases with Different Phenotypes and Genotypes from the Indian Subcontinent.
    Mahajan S, Dhall A, Jassal B, Saluja A, Faruq M, Suri V, Rajan R, Vishnu VY, Sharma MC.
    Neurol India; 2022 Jan; 70(5):2169-2173. PubMed ID: 36352632
    [Abstract] [Full Text] [Related]

  • 4. Anoctamin 5 (ANO5) muscular dystrophy-three different phenotypes and a new histological pattern.
    Seguí F, Gonzalez-Quereda L, Sanchez A, Matas-García A, Garrabou G, Rodriguez MJ, Gallano P, Grau JM, Milisenda JC.
    Neurol Sci; 2020 Oct; 41(10):2967-2971. PubMed ID: 32399949
    [Abstract] [Full Text] [Related]

  • 5. 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; 7(4):443-451. PubMed ID: 32925086
    [Abstract] [Full Text] [Related]

  • 6. 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; 45(5):740-2. PubMed ID: 22499103
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 8. A novel ANO5 splicing variant in a LGMD2L patient leads to production of a truncated aggregation-prone Ano5 peptide.
    Xu J, Xu L, Lau YS, Gao Y, Moore SA, Han R.
    J Pathol Clin Res; 2018 Apr 20; 4(2):135-145. PubMed ID: 29665321
    [Abstract] [Full Text] [Related]

  • 9. 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 20; 23(6):456-60. PubMed ID: 23607914
    [Abstract] [Full Text] [Related]

  • 10. 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 20; 97(38):e12506. PubMed ID: 30235762
    [Abstract] [Full Text] [Related]

  • 11. Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients.
    Magri F, Del Bo R, D'Angelo MG, Sciacco M, Gandossini S, Govoni A, Napoli L, Ciscato P, Fortunato F, Brighina E, Bonato S, Bordoni A, Lucchini V, Corti S, Moggio M, Bresolin N, Comi GP.
    Neuromuscul Disord; 2012 Nov 20; 22(11):934-43. PubMed ID: 22742934
    [Abstract] [Full Text] [Related]

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  • 13.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Penttilä S, Vihola A, Palmio J, Udd B.
    ; 1993 Nov 20. PubMed ID: 23193613
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  • 14. Anoctamin 5 (ANO5) Muscle Disorders: A Narrative Review.
    Soontrapa P, Liewluck T.
    Genes (Basel); 2022 Sep 27; 13(10):. PubMed ID: 36292621
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  • 19. 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
    [Abstract] [Full Text] [Related]

  • 20. 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
    [Abstract] [Full Text] [Related]

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