Pianese L - Search Results

1

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

2

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.

3

Identification of a novel transcript of X25, the human gene involved in Friedreich ataxia.

Pianese L, Tammaro A, Turano M, De Biase I, Monticelli A, Cocozza S. Pianese L, et al. Neurosci Lett. 2002 Mar 8;320(3):137-40. doi: 10.1016/s0304-3940(02)00048-4. Neurosci Lett. 2002. PMID: 11852181

4

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.

5

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

6

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

7

Evidence of a genetic marker associated with early onset in Friedreich's ataxia.

Cocozza S, Antonelli A, Campanella G, Cavalcanti F, De Michele G, Di Donato S, Filla A, Monticelli A, Pianese L, Piccinelli A, et al. Cocozza S, et al. Among authors: pianese l. J Neurol. 1993;240(4):254-6. doi: 10.1007/BF00818715. J Neurol. 1993. PMID: 8496716

8

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.

9

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

10

Real time PCR quantification of frataxin mRNA in the peripheral blood leucocytes of Friedreich ataxia patients and carriers.

Pianese L, Turano M, Lo Casale MS, De Biase I, Giacchetti M, Monticelli A, Criscuolo C, Filla A, Cocozza S. Pianese L, et al. J Neurol Neurosurg Psychiatry. 2004 Jul;75(7):1061-3. doi: 10.1136/jnnp.2003.028605. J Neurol Neurosurg Psychiatry. 2004. PMID: 15201375 Free PMC article.

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