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Journal Abstract Search

343 related items for PubMed ID: 19294599

  • 1. Genetically confirmed patients with merosin-deficient congenital muscular dystrophy in China.
    Yuan J, Takashima H, Higuchi I, Arimura K, Li N, Zhao Z, Shen H, Hu J.
    Neuropediatrics; 2008 Oct; 39(5):264-7. PubMed ID: 19294599
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  • 2. 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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  • 5. Prenatal diagnosis in laminin alpha2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of five international centers.
    Vainzof M, Richard P, Herrmann R, Jimenez-Mallebrera C, Talim B, Yamamoto LU, Ledeuil C, Mein R, Abbs S, Brockington M, Romero NB, Zatz M, Topaloglu H, Voit T, Sewry C, Muntoni F, Guicheney P, Tomé FM.
    Neuromuscul Disord; 2005 Oct; 15(9-10):588-94. PubMed ID: 16084089
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  • 7. Severe congenital muscular dystrophy in a Mexican family with a new nonsense mutation (R2578X) in the laminin alpha-2 gene.
    Coral-Vazquez RM, Rosas-Vargas H, Meza-Espinosa P, Mendoza I, Huicochea JC, Ramon G, Salamanca F.
    J Hum Genet; 2003 Oct; 48(2):91-5. PubMed ID: 12601554
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  • 10. [Congenital muscular dystrophy with merosin deficiency: clinical, histopathological, immunocytochemical and genetic analysis].
    Fardeau M, Tomé FM, Helbling-Leclerc A, Evangelista T, Ottolini A, Chevallay M, Barois A, Estournet B, Harpey JP, Fauré S, Guicheney P, Hillaire D.
    Rev Neurol (Paris); 1996 Jan; 152(1):11-9. PubMed ID: 8729391
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  • 11. Novel mutations in three patients with LGMD2C with phenotypic differences.
    Vermeer S, Verrips A, Willemsen MA, ter Laak HJ, Ginjaar IB, Hamel BC.
    Pediatr Neurol; 2004 Apr; 30(4):291-4. PubMed ID: 15087111
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  • 12. LAMA2 stop-codon mutation: merosin-deficient congenital muscular dystrophy with occipital polymicrogyria, epilepsy and psychomotor regression.
    Vigliano P, Dassi P, Di Blasi C, Mora M, Jarre L.
    Eur J Paediatr Neurol; 2009 Jan; 13(1):72-6. PubMed ID: 18406646
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  • 13. Merosin negative congenital muscular dystrophy: a short report.
    Ralte AM, Sharma MC, Gulati S, Das M, Sarkar C.
    Neurol India; 2003 Sep; 51(3):417-9. PubMed ID: 14652462
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  • 14. 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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  • 15. [Muscular dystrophies due to alterations at extracellular space level: congenital muscular dystrophy caused by merosin deficiency].
    Smeyers P.
    Rev Neurol; 2011 Apr; 28(2):141-9. PubMed ID: 10101782
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  • 16. Merosin-deficient congenital muscular dystrophy in Korea.
    Chae JH, Lee JS, Hwang H, Kim KJ, Hwang YS, Park JD, Cheon JE, Kim IO, Choe GY, Park SH.
    Brain Dev; 2009 May; 31(5):341-6. PubMed ID: 18723302
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  • 17. Merosin-deficient congenital muscular dystrophy: A novel homozygous mutation in the laminin-2 gene.
    Turner C, Mein R, Sharpe C, Love DR.
    J Clin Neurosci; 2015 Dec; 22(12):1983-5. PubMed ID: 26249246
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  • 18. Merosin and congenital muscular dystrophy.
    Miyagoe-Suzuki Y, Nakagawa M, Takeda S.
    Microsc Res Tech; 2015 Dec; 48(3-4):181-91. PubMed ID: 10679965
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  • 19. Congenital muscular dystrophy with rigid spine syndrome: a clinical, pathological, radiological, and genetic study.
    Flanigan KM, Kerr L, Bromberg MB, Leonard C, Tsuruda J, Zhang P, Gonzalez-Gomez I, Cohn R, Campbell KP, Leppert M.
    Ann Neurol; 2000 Feb; 47(2):152-61. PubMed ID: 10665485
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  • 20. Readjusting the localization of merosin (laminin alpha 2-chain) deficient congenital muscular dystrophy locus on chromosome 6q2.
    Helbling-Leclerc A, Topaloglu H, Tomé FM, Sewry C, Gyapay G, Naom I, Muntoni F, Dubowitz V, Barois A, Estournet B.
    C R Acad Sci III; 1995 Dec; 318(12):1245-52. PubMed ID: 8745640
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