Pianese L - Search Results

1

Mutations in insulin-receptor gene. Val996 allele in white NIDDM patients.

Porcellini A, Cocozza S, Monticelli A, Pianese L, Riccardi G, Ferrara A, Varrone S. Porcellini A, et al. Among authors: pianese l. Diabetes Care. 1992 Apr;15(4):591-2. doi: 10.2337/diacare.15.4.591. Diabetes Care. 1992. PMID: 1499491 Free article. No abstract available.

2

NIDDM associated with mutation in tyrosine kinase domain of insulin receptor gene.

Cocozza S, Porcellini A, Riccardi G, Monticelli A, Condorelli G, Ferrara A, Pianese L, Miele C, Capaldo B, Beguinot F, et al. Cocozza S, et al. Among authors: pianese l. Diabetes. 1992 Apr;41(4):521-6. doi: 10.2337/diab.41.4.521. Diabetes. 1992. PMID: 1607076

3

Parental gender, age at birth and expansion length influence GAA repeat intergenerational instability in the X25 gene: pedigree studies and analysis of sperm from patients with Friedreich's ataxia.

De Michele G, Cavalcanti F, Criscuolo C, Pianese L, Monticelli A, Filla A, Cocozza S. De Michele G, et al. Among authors: pianese l. Hum Mol Genet. 1998 Nov;7(12):1901-6. doi: 10.1093/hmg/7.12.1901. Hum Mol Genet. 1998. PMID: 9811933

4

Friedreich's disease. A linkage study in southern and central Italy.

Cavalcanti F, Cocozza S, Filla A, De Michele G, Pianese L, Porcellini A, Monticelli A, Pandolfo M, Banfi S, Varrone S, et al. Cavalcanti F, et al. Among authors: pianese l. Acta Neurol (Napoli). 1992 Aug-Dec;14(4-6):519-23. Acta Neurol (Napoli). 1992. PMID: 1363458

5

Atypical Friedreich ataxia phenotype associated with a novel missense mutation in the X25 gene.

De Michele G, Filla A, Cavalcanti F, Tammaro A, Monticelli A, Pianese L, Di Salle F, Perreti A, Santoro L, Caruso G, Cocozza S. De Michele G, et al. Among authors: pianese l. Neurology. 2000 Jan 25;54(2):496-9. doi: 10.1212/wnl.54.2.496. Neurology. 2000. PMID: 10668723

6

New clues on the origin of the Friedreich ataxia expanded alleles from the analysis of new polymorphisms closely linked to the mutation.

Monticelli A, Giacchetti M, De Biase I, Pianese L, Turano M, Pandolfo M, Cocozza S. Monticelli A, et al. Among authors: pianese l. Hum Genet. 2004 Apr;114(5):458-63. doi: 10.1007/s00439-004-1089-7. Epub 2004 Feb 7. Hum Genet. 2004. PMID: 14767759

7

A dinucleotide repeat polymorphism (D9S202) in the Friedreich's ataxia region on chromosome 9q13-q21.1.

Pandolfo M, Munaro M, Cocozza S, Redolfi EM, Pianese L, Cavalcanti F, Monticelli A, Di Donato S. Pandolfo M, et al. Among authors: pianese l. Hum Mol Genet. 1993 Jun;2(6):822. doi: 10.1093/hmg/2.6.822. Hum Mol Genet. 1993. PMID: 8353506 No abstract available.

8

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.

Campuzano V, Montermini L, Moltò MD, Pianese L, Cossée M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A, Zara F, Cañizares J, Koutnikova H, Bidichandani SI, Gellera C, Brice A, Trouillas P, De Michele G, Filla A, De Frutos R, Palau F, Patel PI, Di Donato S, Mandel JL, Cocozza S, Koenig M, Pandolfo M. Campuzano V, et al. Among authors: pianese l. Science. 1996 Mar 8;271(5254):1423-7. doi: 10.1126/science.271.5254.1423. Science. 1996. PMID: 8596916

9

The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia.

Filla A, De Michele G, Cavalcanti F, Pianese L, Monticelli A, Campanella G, Cocozza S. Filla A, et al. Among authors: pianese l. Am J Hum Genet. 1996 Sep;59(3):554-60. Am J Hum Genet. 1996. PMID: 8751856 Free PMC article.

10

The effect of parental gender on the GAA dynamic mutation in the FRDA gene.

Pianese L, Cavalcanti F, De Michele G, Filla A, Campanella G, Calabrese O, Castaldo I, Monticelli A, Cocozza S. Pianese L, et al. Am J Hum Genet. 1997 Feb;60(2):460-3. Am J Hum Genet. 1997. PMID: 9012421 Free PMC article. No abstract available.

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