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Journal Abstract Search

262 related items for PubMed ID: 26911675

  • 1. 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
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  • 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 15; 134(Pt 1):171-182. PubMed ID: 21186264
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  • 3. 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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  • 4. Anoctamin 5 Knockout Mouse Model Recapitulates LGMD2L Muscle Pathology and Offers Insight Into in vivo Functional Deficits.
    Thiruvengadam G, Sreetama SC, Charton K, Hogarth M, Novak JS, Suel-Petat L, Chandra G, Allard B, Richard I, Jaiswal JK.
    J Neuromuscul Dis; 2021 Feb 12; 8(s2):S243-S255. PubMed ID: 34633328
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  • 9. 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 12; 168(2):135-41. PubMed ID: 22336395
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  • 10. 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 12; 23(6):456-60. PubMed ID: 23607914
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  • 13. 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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  • 15. Proteasomal inhibition restores biological function of mis-sense mutated dysferlin in patient-derived muscle cells.
    Azakir BA, Di Fulvio S, Kinter J, Sinnreich M.
    J Biol Chem; 2012 Mar 23; 287(13):10344-10354. PubMed ID: 22318734
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  • 16. Early-onset limb-girdle muscular dystrophy-2L in a female athlete.
    Blackburn PR, Selcen D, Jackson JL, Guthrie KJ, Cousin MA, Boczek NJ, Clift KE, Klee EW, Dimberg EL, Atwal PS.
    Muscle Nerve; 2017 May 23; 55(5):E19-E21. PubMed ID: 27862037
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  • 18. A new distal myopathy with mutation in anoctamin 5.
    Mahjneh I, Jaiswal J, Lamminen A, Somer M, Marlow G, Kiuru-Enari S, Bashir R.
    Neuromuscul Disord; 2010 Dec 23; 20(12):791-5. PubMed ID: 20692837
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  • 19. Muscle Cells Fix Breaches by Orchestrating a Membrane Repair Ballet.
    Barthélémy F, Defour A, Lévy N, Krahn M, Bartoli M.
    J Neuromuscul Dis; 2018 Dec 23; 5(1):21-28. PubMed ID: 29480214
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