Patrosso MC - Search Results

1

Homozygosity and heterozygosity for the transthyretin Leu64 mutation: clinical, biochemical and molecular findings.

Ferlini A, Salvi F, Uncini A, el-Chami J, Winter P, Altland K, Repetto M, Littardi M, Campoleoni A, Vezzoni P, Patrosso MC. Ferlini A, et al. Among authors: patrosso mc. Clin Genet. 1996 Jan;49(1):10-4. doi: 10.1111/j.1399-0004.1996.tb04317.x. Clin Genet. 1996. PMID: 8721565

2

Novel transthyretin missense mutation (Thr34) in an Italian family with hereditary amyloidosis.

Patrosso MC, Salvi F, De Grandis D, Vezzoni P, Jacobson DR, Ferlini A. Patrosso MC, et al. Am J Med Genet. 1998 May 1;77(2):135-8. doi: 10.1002/(sici)1096-8628(19980501)77:2<135::aid-ajmg5>3.0.co;2-r. Am J Med Genet. 1998. PMID: 9605286

3

Molecular strategies in genetic diagnosis of transthyretin-related hereditary amyloidosis.

Ferlini A, Fini S, Salvi F, Patrosso MC, Vezzoni P, Forabosco A. Ferlini A, et al. Among authors: patrosso mc. FASEB J. 1992 Jul;6(10):2864-6. doi: 10.1096/fasebj.6.10.1353040. FASEB J. 1992. PMID: 1353040

4

A new mutation (TTR Ala-47) in the transthyretin gene associated with hereditary amyloidosis.

Ferlini A, Patrosso MC, Repetto M, Frattini A, Villa A, Fini S, Salvi F, Vezzoni P, Forabosco A. Ferlini A, et al. Among authors: patrosso mc. Hum Mutat. 1994;4(1):61-4. doi: 10.1002/humu.1380040110. Hum Mutat. 1994. PMID: 7951260 No abstract available.

5

Electromyographic findings in transthyretin (TTR)-related familial amyloid polyneuropathy (FAP).

Montagna P, Marchello L, Plasmati R, Ferlini A, Patrosso MC, Salvi F. Montagna P, et al. Among authors: patrosso mc. Electroencephalogr Clin Neurophysiol. 1996 Oct;101(5):423-30. Electroencephalogr Clin Neurophysiol. 1996. PMID: 8913196

6

Androgen receptor gene (CAG)n repeat analysis in the differential diagnosis between Kennedy disease and other motoneuron disorders.

Ferlini A, Patrosso MC, Guidetti D, Merlini L, Uncini A, Ragno M, Plasmati R, Fini S, Repetto M, Vezzoni P, et al. Ferlini A, et al. Among authors: patrosso mc. Am J Med Genet. 1995 Jan 2;55(1):105-11. doi: 10.1002/ajmg.1320550125. Am J Med Genet. 1995. PMID: 7702080

7

An Italian kindred with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

Ragno M, Tournier-Lasserve E, Fiori MG, Manca A, Patrosso MC, Ferlini A, Sirocchi G, Trojano L, Chabriat H, Salvi F. Ragno M, et al. Among authors: patrosso mc. Ann Neurol. 1995 Aug;38(2):231-6. doi: 10.1002/ana.410380216. Ann Neurol. 1995. PMID: 7654071

8

C to T mutation causing premature termination of CD40 ligand at amino acid 221 in a patient affected by hyper IgM syndrome.

Villa A, Strina D, Macchi P, Patrosso MC, Vezzoni P, Tovo PA, Giliani S, Ugazio AG, Notarangelo LD. Villa A, et al. Among authors: patrosso mc. Hum Mutat. 1994;3(1):73-5. doi: 10.1002/humu.1380030115. Hum Mutat. 1994. PMID: 7906987 No abstract available.

9

The exon-intron organization of the human X-linked gene (FLN1) encoding actin-binding protein 280.

Patrosso MC, Repetto M, Villa A, Milanesi L, Frattini A, Faranda S, Mancini M, Maestrini E, Toniolo D, Vezzoni P. Patrosso MC, et al. Genomics. 1994 May 1;21(1):71-6. doi: 10.1006/geno.1994.1226. Genomics. 1994. PMID: 8088819

10

Capillary electrophoresis of polymerase chain reaction-amplified products in polymer networks: the case of Kennedy's disease.

Nesi M, Righetti PG, Patrosso MC, Ferlini A, Chiari M. Nesi M, et al. Among authors: patrosso mc. Electrophoresis. 1994 May;15(5):644-6. doi: 10.1002/elps.1150150190. Electrophoresis. 1994. PMID: 7925243

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