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Journal Abstract Search

368 related items for PubMed ID: 23607914

  • 1. 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; 23(6):456-60. PubMed ID: 23607914
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 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; 24(12):1097-102. PubMed ID: 25176504
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. 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 20; 168(2):135-41. PubMed ID: 22336395
    [Abstract] [Full Text] [Related]

  • 6. 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 Feb 20; 7(4):443-451. PubMed ID: 32925086
    [Abstract] [Full Text] [Related]

  • 7. 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 20; 134(Pt 1):171-182. PubMed ID: 21186264
    [Abstract] [Full Text] [Related]

  • 8. 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
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 10. 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
    [Abstract] [Full Text] [Related]

  • 11. ANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structure.
    Jarmula A, Łusakowska A, Fichna JP, Topolewska M, Macias A, Johnson K, Töpf A, Straub V, Rosiak E, Szczepaniak K, Dunin-Horkawicz S, Maruszak A, Kaminska AM, Redowicz MJ.
    Sci Rep; 2019 Aug 08; 9(1):11533. PubMed ID: 31395899
    [Abstract] [Full Text] [Related]

  • 12. 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 08; 22(11):934-43. PubMed ID: 22742934
    [Abstract] [Full Text] [Related]

  • 13. [Muscular dystrophy due to mutations in anoctamin 5: clinical and molecular genetic findings].
    Deschauer M, Joshi PR, Gläser D, Hanisch F, Stoltenburg G, Zierz S.
    Nervenarzt; 2011 Dec 08; 82(12):1596-603. PubMed ID: 21739273
    [Abstract] [Full Text] [Related]

  • 14. Defective membrane fusion and repair in Anoctamin5-deficient muscular dystrophy.
    Griffin DA, Johnson RW, Whitlock JM, Pozsgai ER, Heller KN, Grose WE, Arnold WD, Sahenk Z, Hartzell HC, Rodino-Klapac LR.
    Hum Mol Genet; 2016 May 15; 25(10):1900-1911. PubMed ID: 26911675
    [Abstract] [Full Text] [Related]

  • 15. Update on the genetics of limb girdle muscular dystrophy.
    Mitsuhashi S, Kang PB.
    Semin Pediatr Neurol; 2012 Dec 15; 19(4):211-8. PubMed ID: 23245554
    [Abstract] [Full Text] [Related]

  • 16. 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 Dec 15; 70(5):2169-2173. PubMed ID: 36352632
    [Abstract] [Full Text] [Related]

  • 17. Other limb-girdle muscular dystrophies.
    Amato AA.
    Handb Clin Neurol; 2011 Dec 15; 101():119-24. PubMed ID: 21496628
    [Abstract] [Full Text] [Related]

  • 18. 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 15; 20(2):173-7. PubMed ID: 25864073
    [Abstract] [Full Text] [Related]

  • 19. Clinical spectrum and gene mutations in a Chinese cohort with anoctaminopathy.
    Cai S, Gao M, Xi J, Liu Z, Yue D, Wu H, Bi H, Li J, Liang Z, Zhao C, Udd B, Luo S, Lu J.
    Neuromuscul Disord; 2019 Aug 15; 29(8):628-633. PubMed ID: 31350120
    [Abstract] [Full Text] [Related]

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