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Journal Abstract Search

278 related items for PubMed ID: 24957499

  • 1. 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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  • 2. 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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  • 3. 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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  • 4. Atypical phenotype in two patients with LAMA2 mutations.
    Marques J, Duarte ST, Costa S, Jacinto S, Oliveira J, Oliveira ME, Santos R, Bronze-da-Rocha E, Silvestre AR, Calado E, Evangelista T.
    Neuromuscul Disord; 2014 May; 24(5):419-24. PubMed ID: 24534542
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  • 5. Laminin alpha 2-chain gene mutations in two siblings presenting with limb-girdle muscular dystrophy.
    Naom I, D'Alessandro M, Sewry CA, Philpot J, Manzur AY, Dubowitz V, Muntoni F.
    Neuromuscul Disord; 1998 Oct; 8(7):495-501. PubMed ID: 9829280
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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. A cryptic intronic LAMA2 insertion in a boy with mild congenital muscular dystrophy type 1A.
    Specht S, Duff J, Charlton R, Polvikoski T, Barresi R, Töpf A, Straub V.
    Neuromuscul Disord; 2021 Jul; 31(7):660-665. PubMed ID: 34074572
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  • 9. Mutations in LAMA2 and CAPN3 genes associated with genetic and phenotypic heterogeneities within a single consanguineous family involving both congenital and progressive muscular dystrophies.
    Hadj Salem I, Kamoun F, Louhichi N, Rouis S, Mziou M, Fendri-Kriaa N, Makni-Ayadi F, Triki C, Fakhfakh F.
    Biosci Rep; 2011 Apr; 31(2):125-35. PubMed ID: 20477750
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  • 10. The expanding phenotype of laminin alpha2 chain (merosin) abnormalities: case series and review.
    Jones KJ, Morgan G, Johnston H, Tobias V, Ouvrier RA, Wilkinson I, North KN.
    J Med Genet; 2001 Oct; 38(10):649-57. PubMed ID: 11584042
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  • 11. Merosin and congenital muscular dystrophy.
    Miyagoe-Suzuki Y, Nakagawa M, Takeda S.
    Microsc Res Tech; 2001 Oct; 48(3-4):181-91. PubMed ID: 10679965
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  • 13. Congenital muscular dystrophy with primary laminin alpha2 (merosin) deficiency presenting as inflammatory myopathy.
    Pegoraro E, Mancias P, Swerdlow SH, Raikow RB, Garcia C, Marks H, Crawford T, Carver V, Di Cianno B, Hoffman EP.
    Ann Neurol; 1996 Nov; 40(5):782-91. PubMed ID: 8957020
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  • 16. Mild clinical phenotype in a 12-year-old boy with partial merosin deficiency and central and peripheral nervous system abnormalities.
    Mora M, Moroni I, Uziel G, di Blasi C, Barresi R, Farina L, Morandi L.
    Neuromuscul Disord; 1996 Oct; 6(5):377-81. PubMed ID: 8938702
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  • 17. Expression of laminin chains in skin in merosin-deficient congenital muscular dystrophy.
    Sewry CA, D'Alessandro M, Wilson LA, Sorokin LM, Naom I, Bruno S, Ferlini A, Dubowitz V, Muntoni F.
    Neuropediatrics; 1997 Aug; 28(4):217-22. PubMed ID: 9309712
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  • 18. High creatine kinase levels and white matter changes: clinical and genetic spectrum of congenital muscular dystrophies with laminin alpha-2 deficiency.
    Beytía Mde L, Dekomien G, Hoffjan S, Haug V, Anastasopoulos C, Kirschner J.
    Mol Cell Probes; 2014 Aug; 28(4):118-22. PubMed ID: 24225367
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  • 20. The zebrafish candyfloss mutant implicates extracellular matrix adhesion failure in laminin alpha2-deficient congenital muscular dystrophy.
    Hall TE, Bryson-Richardson RJ, Berger S, Jacoby AS, Cole NJ, Hollway GE, Berger J, Currie PD.
    Proc Natl Acad Sci U S A; 2007 Apr 24; 104(17):7092-7. PubMed ID: 17438294
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