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Items: 1 to 20 of 111

1.

Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations.

Geranmayeh F, Clement E, Feng LH, Sewry C, Pagan J, Mein R, Abbs S, Brueton L, Childs AM, Jungbluth H, De Goede CG, Lynch B, Lin JP, Chow G, Sousa Cd, O'Mahony O, Majumdar A, Straub V, Bushby K, Muntoni F.

Neuromuscul Disord. 2010 Apr;20(4):241-50. doi: 10.1016/j.nmd.2010.02.001. Epub 2010 Mar 6.

PMID:
20207543
2.

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. doi: 10.1016/j.jocn.2015.04.016. Epub 2015 Aug 4.

PMID:
26249246
3.

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. doi: 10.1055/s-0029-1202288. Epub 2009 Mar 17.

PMID:
19294599
4.

A splice site mutation in laminin-α2 results in a severe muscular dystrophy and growth abnormalities in zebrafish.

Gupta VA, Kawahara G, Myers JA, Chen AT, Hall TE, Manzini MC, Currie PD, Zhou Y, Zon LI, Kunkel LM, Beggs AH.

PLoS One. 2012;7(8):e43794. doi: 10.1371/journal.pone.0043794. Epub 2012 Aug 27.

5.

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. Review.

6.

LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients.

Oliveira J, Santos R, Soares-Silva I, Jorge P, Vieira E, Oliveira ME, Moreira A, Coelho T, Ferreira JC, Fonseca MJ, Barbosa C, Prats J, Aríztegui ML, Martins ML, Moreno T, Heinimann K, Barbot C, Pascual-Pascual SI, Cabral A, Fineza I, Santos M, Bronze-da-Rocha E.

Clin Genet. 2008 Dec;74(6):502-12. doi: 10.1111/j.1399-0004.2008.01068.x. Epub 2008 Jun 11.

PMID:
18700894
8.

Merosin-deficient congenital muscular dystrophy type 1A.

Buteică E, Roşulescu E, Burada F, Stănoiu B, Zăvăleanu M.

Rom J Morphol Embryol. 2008;49(2):229-33.

9.

Novel mutations in LAMA2 gene responsible for a severe phenotype of congenital muscular dystrophy in two Tunisian families.

Louhichi N, Richard P, Triki CH, Meziou M, Ayadi H, Guicheney P, Fakhfakh F.

Arch Inst Pasteur Tunis. 2006;83(1-4):19-23.

PMID:
19388593
10.

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. doi: 10.1016/j.ejpn.2008.01.010. Epub 2008 Apr 11.

PMID:
18406646
11.

LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect.

Di Blasi C, Piga D, Brioschi P, Moroni I, Pini A, Ruggieri A, Zanotti S, Uziel G, Jarre L, Della Giustina E, Scuderi C, Jonsrud C, Mantegazza R, Morandi L, Mora M.

Arch Neurol. 2005 Oct;62(10):1582-6.

PMID:
16216942
12.

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. doi: 10.1042/BSR20100026.

PMID:
20477750
13.

[Clinical, molecular pathological and genetic analyses of a Chinese family with congenital muscular dystrophy type 1A].

Wang S, Xiong H, Luo J, Chang X, Yuan Y, Wu X.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010 Feb;27(1):13-7. doi: 10.3760/cma.j.issn.1003-9406.2010.01.003. Chinese.

PMID:
20140860
14.

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. doi: 10.1016/j.mcp.2013.11.002. Epub 2013 Nov 10.

PMID:
24225367
15.

Clinical and histopathological study of merosin-deficient and merosin-positive congenital muscular dystrophy.

Talim B, Kale G, Topaloglu H, Akçören Z, Caglar M, Gögüş S, Elkay M.

Pediatr Dev Pathol. 2000 Mar-Apr;3(2):168-76.

PMID:
10679036
16.

PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy.

Guicheney P, Vignier N, Zhang X, He Y, Cruaud C, Frey V, Helbling-Leclerc A, Richard P, Estournet B, Merlini L, Topaloglu H, Mora M, Harpey JP, Haenggeli CA, Barois A, Hainque B, Schwartz K, Tomé FM, Fardeau M, Tryggvason K.

J Med Genet. 1998 Mar;35(3):211-7.

17.

Congenital muscular dystrophy type 1A with residual merosin expression.

Kim HJ, Choi YC, Park HJ, Lee YM, Kim HD, Lee JS, Kang HC.

Korean J Pediatr. 2014 Mar;57(3):149-52. doi: 10.3345/kjp.2014.57.3.149. Epub 2014 Mar 31.

18.

Genotype/phenotype analysis in Chinese laminin-α2 deficient congenital muscular dystrophy patients.

Xiong H, Tan D, Wang S, Song S, Yang H, Gao K, Liu A, Jiao H, Mao B, Ding J, Chang X, Wang J, Wu Y, Yuan Y, Jiang Y, Zhang F, Wu H, Wu X.

Clin Genet. 2015 Mar;87(3):233-43. doi: 10.1111/cge.12366. Epub 2014 Mar 31.

PMID:
24611677
19.

Segmental uniparental isodisomy of chromosome 6 causing transient diabetes mellitus and merosin-deficient congenital muscular dystrophy.

Andrade RC, Nevado J, de Faria Domingues de Lima MA, Saad T, Moraes L, Chimelli L, Lapunzina P, Vargas FR.

Am J Med Genet A. 2014 Nov;164A(11):2908-13. doi: 10.1002/ajmg.a.36716. Epub 2014 Aug 14.

PMID:
25124546
20.

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.

PMID:
9829280
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