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Journal Abstract Search

756 related items for PubMed ID: 25663498

  • 1. LAMA2-related myopathy: Frequency among congenital and limb-girdle muscular dystrophies.
    Løkken N, Born AP, Duno M, Vissing J.
    Muscle Nerve; 2015 Oct; 52(4):547-53. PubMed ID: 25663498
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  • 2. Limb girdle muscular dystrophy due to LAMA2 gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosis.
    Magri F, Brusa R, Bello L, Peverelli L, Del Bo R, Govoni A, Cinnante C, Colombo I, Fortunato F, Tironi R, Corti S, Grimoldi N, Sciacco M, Bresolin N, Pegoraro E, Moggio M, Comi GP.
    Acta Myol; 2020 Jun; 39(2):67-82. PubMed ID: 32904964
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  • 3. Limb girdle muscular dystrophy due to LAMA2 mutations: diagnostic difficulties due to associated peripheral neuropathy.
    Chan SH, Foley AR, Phadke R, Mathew AA, Pitt M, Sewry C, Muntoni F.
    Neuromuscul Disord; 2014 Aug; 24(8):677-83. PubMed ID: 24957499
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  • 5. Clinical and molecular genetic analysis of a family with late-onset LAMA2-related muscular dystrophy.
    Ding J, Zhao D, Du R, Zhang Y, Yang H, Liu J, Yan C, Zhang F, Xiong H.
    Brain Dev; 2016 Feb; 38(2):242-9. PubMed ID: 26304763
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  • 6. Clinical and neuroimaging findings in two brothers with limb girdle muscular dystrophy due to LAMA2 mutations.
    Harris E, McEntagart M, Topf A, Lochmüller H, Bushby K, Sewry C, Straub V.
    Neuromuscul Disord; 2017 Feb; 27(2):170-174. PubMed ID: 27932089
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  • 7. Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohort.
    Tan D, Ge L, Fan Y, Chang X, Wang S, Wei C, Ding J, Liu A, Wang S, Li X, Gao K, Yang H, Que C, Huang Z, Li C, Zhu Y, Mao B, Jin B, Hua Y, Zhang X, Zhang B, Zhu W, Zhang C, Wang Y, Yuan Y, Jiang Y, Rutkowski A, Bönnemann CG, Wu X, Xiong H.
    Orphanet J Rare Dis; 2021 Jul 19; 16(1):319. PubMed ID: 34281576
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  • 8. Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations.
    Gavassini BF, Carboni N, Nielsen JE, Danielsen ER, Thomsen C, Svenstrup K, Bello L, Maioli MA, Marrosu G, Ticca AF, Mura M, Marrosu MG, Soraru G, Angelini C, Vissing J, Pegoraro E.
    Muscle Nerve; 2011 Nov 19; 44(5):703-9. PubMed ID: 21953594
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  • 9. Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.
    Ghaoui R, Cooper ST, Lek M, Jones K, Corbett A, Reddel SW, Needham M, Liang C, Waddell LB, Nicholson G, O'Grady G, Kaur S, Ong R, Davis M, Sue CM, Laing NG, North KN, MacArthur DG, Clarke NF.
    JAMA Neurol; 2015 Dec 19; 72(12):1424-32. PubMed ID: 26436962
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  • 10. A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients.
    Polavarapu K, Mathur A, Joshi A, Nashi S, Preethish-Kumar V, Bardhan M, Sharma P, Parveen S, Seth M, Vengalil S, Chawla T, Shingavi L, Shamim U, Nayak S, Vivekanand A, Töpf A, Roos A, Horvath R, Lochmüller H, Nandeesh B, Arunachal G, Nalini A, Faruq M.
    Neurogenetics; 2021 Oct 19; 22(4):271-285. PubMed ID: 34333724
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  • 11. Increased polyamines as protective disease modifiers in congenital muscular dystrophy.
    Kemaladewi DU, Benjamin JS, Hyatt E, Ivakine EA, Cohn RD.
    Hum Mol Genet; 2018 Jun 01; 27(11):1905-1912. PubMed ID: 29566247
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  • 13. Update on the genetics of limb girdle muscular dystrophy.
    Mitsuhashi S, Kang PB.
    Semin Pediatr Neurol; 2012 Dec 01; 19(4):211-8. PubMed ID: 23245554
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  • 18. Limb-girdle muscular dystrophy type 2I is not rare in Taiwan.
    Liang WC, Hayashi YK, Ogawa M, Wang CH, Huang WT, Nishino I, Jong YJ.
    Neuromuscul Disord; 2013 Aug 01; 23(8):675-81. PubMed ID: 23800702
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  • 19. Novel mutation identification and copy number variant detection via exome sequencing in congenital muscular dystrophy.
    Cauley ES, Pittman A, Mummidivarpu S, Karimiani EG, Martinez S, Moroni I, Boostani R, Podini D, Mora M, Jamshidi Y, Hoffman EP, Manzini MC.
    Mol Genet Genomic Med; 2020 Nov 01; 8(11):e1387. PubMed ID: 32936536
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  • 20. Reliability and accuracy of skeletal muscle imaging in limb-girdle muscular dystrophies.
    ten Dam L, van der Kooi AJ, van Wattingen M, de Haan RJ, de Visser M.
    Neurology; 2012 Oct 16; 79(16):1716-23. PubMed ID: 23035061
    [Abstract] [Full Text] [Related]

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