Format
Sort by

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 143

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. doi: 10.1016/j.nmd.2014.05.008.

PMID:
24957499
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. doi: 10.1002/mus.24588.

PMID:
25663498
3.

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.

4.

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
5.

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.

PMID:
8938702
6.

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. doi: 10.1016/j.nmd.2014.01.004.

PMID:
24534542
7.

Late onset muscular dystrophy with cerebral white matter changes due to partial merosin deficiency.

Tan E, Topaloglu H, Sewry C, Zorlu Y, Naom I, Erdem S, D'Alessandro M, Muntoni F, Dubowitz V.

Neuromuscul Disord. 1997 Mar;7(2):85-9.

PMID:
9131648
8.
9.

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;48(2):91-5.

PMID:
12601554
10.

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
11.

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.

12.

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;44(5):703-9. doi: 10.1002/mus.22132.

PMID:
21953594
13.

Coexisting muscular dystrophies and epilepsy in children.

Tsao CY, Mendell JR.

J Child Neurol. 2006 Feb;21(2):148-50.

PMID:
16566880
14.

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. doi: 10.1016/j.braindev.2015.08.005.

PMID:
26304763
15.

Substitution of a conserved cysteine-996 in a cysteine-rich motif of the laminin alpha2-chain in congenital muscular dystrophy with partial deficiency of the protein.

Nissinen M, Helbling-Leclerc A, Zhang X, Evangelista T, Topaloglu H, Cruaud C, Weissenbach J, Fardeau M, Tomé FM, Schwartz K, Tryggvason K, Guicheney P.

Am J Hum Genet. 1996 Jun;58(6):1177-84.

16.

Merosin and congenital muscular dystrophy.

Miyagoe-Suzuki Y, Nakagawa M, Takeda S.

Microsc Res Tech. 2000 Feb 1-15;48(3-4):181-91. Review.

PMID:
10679965
17.

Dysmyelinating sensory-motor neuropathy in merosin-deficient congenital muscular dystrophy.

Di Muzio A, De Angelis MV, Di Fulvio P, Ratti A, Pizzuti A, Stuppia L, Gambi D, Uncini A.

Muscle Nerve. 2003 Apr;27(4):500-6.

PMID:
12661054
18.

Variable clinical phenotype in merosin-deficient congenital muscular dystrophy associated with differential immunolabelling of two fragments of the laminin alpha 2 chain.

Sewry CA, Naom I, D'Alessandro M, Sorokin L, Bruno S, Wilson LA, Dubowitz V, Muntoni F.

Neuromuscul Disord. 1997 May;7(3):169-75.

PMID:
9185180
19.

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.

PMID:
8957020
20.

Telethonin-deficiency initially presenting as a congenital muscular dystrophy.

Ferreiro A, Mezmezian M, Olivé M, Herlicoviez D, Fardeau M, Richard P, Romero NB.

Neuromuscul Disord. 2011 Jun;21(6):433-8. doi: 10.1016/j.nmd.2011.03.005. Review.

PMID:
21530252
Items per page

Supplemental Content

Support Center