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Journal Abstract Search

368 related items for PubMed ID: 23607914

  • 21. 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
    [Abstract] [Full Text] [Related]

  • 22. A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12.
    Jarry J, Rioux MF, Bolduc V, Robitaille Y, Khoury V, Thiffault I, Tétreault M, Loisel L, Bouchard JP, Brais B.
    Brain; 2007 Feb 01; 130(Pt 2):368-80. PubMed ID: 17008331
    [Abstract] [Full Text] [Related]

  • 23. Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies.
    Preisler N, Lukacs Z, Vinge L, Madsen KL, Husu E, Hansen RS, Duno M, Andersen H, Laub M, Vissing J.
    Mol Genet Metab; 2013 Nov 01; 110(3):287-9. PubMed ID: 24011652
    [Abstract] [Full Text] [Related]

  • 24. 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]

  • 25. Limb-girdle muscular dystrophy in the Netherlands: gene defect identified in half the families.
    van der Kooi AJ, Frankhuizen WS, Barth PG, Howeler CJ, Padberg GW, Spaans F, Wintzen AR, Wokke JH, van Ommen GJ, de Visser M, Bakker E, Ginjaar HB.
    Neurology; 2007 Jun 12; 68(24):2125-8. PubMed ID: 17562833
    [Abstract] [Full Text] [Related]

  • 26. 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 12; 97(38):e12506. PubMed ID: 30235762
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  • 27. Limb girdle muscular dystrophy type 2L presenting as necrotizing myopathy.
    Schneider I, Stoltenburg G, Deschauer M, Winterholler M, Hanisch F.
    Acta Myol; 2014 May 12; 33(1):19-21. PubMed ID: 24843231
    [Abstract] [Full Text] [Related]

  • 28. Two novel CAV3 gene mutations in Japanese families.
    Sugie K, Murayama K, Noguchi S, Murakami N, Mochizuki M, Hayashi YK, Nonaka I, Nishino I.
    Neuromuscul Disord; 2004 Dec 12; 14(12):810-4. PubMed ID: 15564037
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  • 30. Anoctamin 5 (ANO5) Muscle Disorders: A Narrative Review.
    Soontrapa P, Liewluck T.
    Genes (Basel); 2022 Sep 27; 13(10):. PubMed ID: 36292621
    [Abstract] [Full Text] [Related]

  • 31. DYSF mutation analysis in a group of Chinese patients with dysferlinopathy.
    Zhao Z, Hu J, Sakiyama Y, Okamoto Y, Higuchi I, Li N, Shen H, Takashima H.
    Clin Neurol Neurosurg; 2013 Aug 27; 115(8):1234-7. PubMed ID: 23254335
    [Abstract] [Full Text] [Related]

  • 32. 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 27; 34(8):1111-8. PubMed ID: 23606453
    [Abstract] [Full Text] [Related]

  • 33. Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies.
    Inashkina I, Jankevics E, Stavusis J, Vasiljeva I, Viksne K, Micule I, Strautmanis J, Naudina MS, Cimbalistiene L, Kucinskas V, Krumina A, Utkus A, Burnyte B, Matuleviciene A, Lace B.
    BMC Musculoskelet Disord; 2016 May 04; 17():200. PubMed ID: 27142102
    [Abstract] [Full Text] [Related]

  • 34. Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J.
    Udd B, Vihola A, Sarparanta J, Richard I, Hackman P.
    Neurology; 2005 Feb 22; 64(4):636-42. PubMed ID: 15728284
    [Abstract] [Full Text] [Related]

  • 35. Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients.
    Ten Dam L, Frankhuizen WS, Linssen WHJP, Straathof CS, Niks EH, Faber K, Fock A, Kuks JB, Brusse E, de Coo R, Voermans N, Verrips A, Hoogendijk JE, van der Pol L, Westra D, de Visser M, van der Kooi AJ, Ginjaar I.
    Clin Genet; 2019 Aug 22; 96(2):126-133. PubMed ID: 30919934
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  • 37. 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 Aug 22; 8(s2):S243-S255. PubMed ID: 34633328
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