D'Alessandro M - Search Results

1

Prenatal diagnosis in merosin-deficient congenital muscular dystrophy.

Naom I, Sewry C, D'Alessandro M, Topaloglu H, Ferlini A, Wilson L, Dubowitz V, Muntoni F. Naom I, et al. Neuromuscul Disord. 1997 May;7(3):176-9. doi: 10.1016/s0960-8966(97)00448-3. Neuromuscul Disord. 1997. PMID: 9185181

2

Diagnosis of merosin (laminin-2) deficient congenital muscular dystrophy by skin biopsy.

Sewry CA, Philpot J, Sorokin LM, Wilson LA, Naom I, Goodwin F, D'Alessandro M, Dubowitz V, Muntoni F. Sewry CA, et al. Lancet. 1996 Mar 2;347(9001):582-4. doi: 10.1016/s0140-6736(96)91274-x. Lancet. 1996. PMID: 8596321

3

The protein defect in congenital muscular dystrophy.

Sewry CA, Naom I, D'Alessandro M, Ferlini A, Philpot J, Mercuri E, Dubowitz V, Muntoni F. Sewry CA, et al. Biochem Soc Trans. 1996 May;24(2):281S. doi: 10.1042/bst024281s. Biochem Soc Trans. 1996. PMID: 8736939 No abstract available.

4

Refinement of the laminin alpha2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy.

Naom IS, D'Alessandro M, Topaloglu H, Sewry C, Ferlini A, Helbling-Leclerc A, Guicheney P, Weissenbach J, Schwartz K, Bushby K, Philpot J, Dubowitz V, Muntoni F. Naom IS, et al. J Med Genet. 1997 Feb;34(2):99-104. doi: 10.1136/jmg.34.2.99. J Med Genet. 1997. PMID: 9039983 Free PMC article.

5

The role of immunocytochemistry and linkage analysis in the prenatal diagnosis of merosin-deficient congenital muscular dystrophy.

Naom I, D'Alessandro M, Sewry C, Ferlini A, Topaloglu H, Helbling-Leclerc A, Guicheney P, Schwartz K, Akcoren Z, Dubowitz V, Muntoni F. Naom I, et al. Hum Genet. 1997 Apr;99(4):535-40. doi: 10.1007/s004390050402. Hum Genet. 1997. PMID: 9099847

6

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. Tan E, et al. Neuromuscul Disord. 1997 Mar;7(2):85-9. doi: 10.1016/s0960-8966(96)00421-x. Neuromuscul Disord. 1997. PMID: 9131648

7

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. Sewry CA, et al. Neuromuscul Disord. 1997 May;7(3):169-75. doi: 10.1016/s0960-8966(97)00425-2. Neuromuscul Disord. 1997. PMID: 9185180

8

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. Sewry CA, et al. Neuropediatrics. 1997 Aug;28(4):217-22. doi: 10.1055/s-2007-973703. Neuropediatrics. 1997. PMID: 9309712

9

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. Naom I, et al. Neuromuscul Disord. 1998 Oct;8(7):495-501. doi: 10.1016/s0960-8966(98)00065-0. Neuromuscul Disord. 1998. PMID: 9829280

10

Is there selection in favour of heterozygotes in families with merosin-deficient congenital muscular dystrophy?

D'Alessandro M, Naom I, Ferlini A, Sewry C, Dubowitz V, Muntoni F. D'Alessandro M, et al. Hum Genet. 1999 Oct;105(4):308-13. doi: 10.1007/s004399900093. Hum Genet. 1999. PMID: 10543397

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