Ferlini A - Search Results

1

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. Am J Med Genet. 1995 Jan 2;55(1):105-11. doi: 10.1002/ajmg.1320550125. Am J Med Genet. 1995. PMID: 7702080

2

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: ferlini a. Electrophoresis. 1994 May;15(5):644-6. doi: 10.1002/elps.1150150190. Electrophoresis. 1994. PMID: 7925243

3

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. Among authors: ferlini a. 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

4

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. FASEB J. 1992 Jul;6(10):2864-6. doi: 10.1096/fasebj.6.10.1353040. FASEB J. 1992. PMID: 1353040

5

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. Hum Mutat. 1994;4(1):61-4. doi: 10.1002/humu.1380040110. Hum Mutat. 1994. PMID: 7951260 No abstract available.

6

X-linked bulbar and spinal muscular atrophy, or Kennedy disease: clinical, neurophysiological, neuropathological, neuropsychological and molecular study of a large family.

Guidetti D, Vescovini E, Motti L, Ghidoni E, Gemignani F, Marbini A, Patrosso MC, Ferlini A, Solime F. Guidetti D, et al. Among authors: ferlini a. J Neurol Sci. 1996 Feb;135(2):140-8. doi: 10.1016/0022-510x(95)00283-8. J Neurol Sci. 1996. PMID: 8867070

7

Hydrocephalus, skeletal anomalies, and mental disturbances in a mother and three daughters: a new syndrome.

Ferlini A, Ragno M, Gobbi P, Marinucci C, Rossi R, Zanetti A, Milan M, Camera G, Calzolari E. Ferlini A, et al. Am J Med Genet. 1995 Dec 4;59(4):506-11. doi: 10.1002/ajmg.1320590419. Am J Med Genet. 1995. PMID: 8585573

8

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. Clin Genet. 1996 Jan;49(1):10-4. doi: 10.1111/j.1399-0004.1996.tb04317.x. Clin Genet. 1996. PMID: 8721565

9

Epidemiological survey of X-linked bulbar and spinal muscular atrophy, or Kennedy disease, in the province of Reggio Emilia, Italy.

Guidetti D, Sabadini R, Ferlini A, Torrente I. Guidetti D, et al. Among authors: ferlini a. Eur J Epidemiol. 2001;17(6):587-91. doi: 10.1023/a:1014580219761. Eur J Epidemiol. 2001. PMID: 11949733

10

Genomic and transcription studies as diagnostic tools for a prenatal detection of X-linked dilated cardiomyopathy due to a dystrophin gene mutation.

Rimessi P, Gualandi F, Duprez L, Spitali P, Neri M, Merlini L, Calzolari E, Muntoni F, Ferlini A. Rimessi P, et al. Among authors: ferlini a. Am J Med Genet A. 2005 Feb 1;132A(4):391-4. doi: 10.1002/ajmg.a.30513. Am J Med Genet A. 2005. PMID: 15641026

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