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S VARRONE

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Articles 52
Citations 132
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Recent Articles
1.
Affaitati A, De Cristofaro T, Feliciello A, VARRONE S
Gene . 2001 Apr; 267(1):89-93. PMID: 11311558
Spinocerebellar ataxia 2 (SCA-2) is a neurodegenerative disorder caused by the expansion of an unstable CAG/polyglutamine repeat located at the NH(2)-terminus of ataxin-2 protein. Ataxin-2 is composed by 1312 aminoacids...
2.
De Cristofaro T, Affaitati A, Feliciello A, Avvedimento E, VARRONE S
Biochem Biophys Res Commun . 2000 Jun; 272(3):816-21. PMID: 10860836
The expansion of CAG repeats is the genetic defect underlying eight neurodegenerative diseases. A common feature of these disorders is the presence of intracellular aggregates in neuronal cells. It is...
3.
Feliciello A, Cardone L, Garbi C, Ginsberg M, VARRONE S, Rubin C, et al.
FEBS Lett . 2000 Jan; 464(3):174-8. PMID: 10618500
A yeast two-hybrid screen revealed that regulatory subunits (RII) of PKAII bind the Yotiao protein. Yotiao interacts with the NR1 subunit of the NMDA receptor. A purified C-terminal fragment of...
4.
De Cristofaro T, Affaitati A, Cariello L, Avvedimento E, VARRONE S
Biochem Biophys Res Commun . 1999 Jun; 260(1):150-8. PMID: 10381359
A common feature of CAG-expansion neurodegenerative diseases is the presence of intranuclear aggregates in neuronal cells. We have used a synthetic fusion protein containing at the NH2 terminus the influenza...
5.
Cariello L, De Cristofaro T, Zanetti L, Cuomo T, Di Maio L, Campanella G, et al.
Hum Genet . 1996 Dec; 98(6):633-5. PMID: 8931689
Huntington's disease (HD) is a neurodegenerative disorder associated with CAG repeat expansion. We measured transglutaminase (TGase) activity in lymphocytes from 35 HD patients and from healthy individuals to ascertain whether...
6.
DeBrasi D, Genardi M, DAgostino A, Calvieri F, Tozzi C, VARRONE S, et al.
Hum Genet . 1995 May; 95(5):519-25. PMID: 7759072
We report cytogenetic and molecular investigations performed in two cases of mosaic trisomy 8 combined with mosaic sex chromosome aneuploidy. In a 35-year-old female, presenting with short stature, gonadal dysgenesis,...
7.
De Michele G, Filla A, Cavalcanti F, Di Maio L, Pianese L, Castaldo I, et al.
J Neurol Neurosurg Psychiatry . 1994 Aug; 57(8):977-9. PMID: 8057123
Twenty two patients from 17 families with Friedreich's disease phenotype but with onset ranging from the ages of 21 to 36 are described. Comparison with "typical" Friedreich's disease with onset...
8.
Cavalcanti F, Cocozza S, Filla A, De Michele G, Pianese L, Porcellini A, et al.
Acta Neurol (Napoli) . 1992 Aug; 14(4-6):519-23. PMID: 1363458
We studied linkage and linkage disequilibrium between the genetic locus of Friedreich's disease (FRDA) and two maker loci (D9S15 and D9S5) of chromosome 9q13-q21.1 in 49 subjects from 12 families...
9.
Porcellini A, Cocozza S, Monticelli A, Pianese L, Riccardi G, Ferrara A, et al.
Diabetes Care . 1992 Apr; 15(4):591-2. PMID: 1499491
No abstract available.
10.
Valentino R, Tommaselli A, Rossi R, Lombardi G, VARRONE S
J Endocrinol Invest . 1990 Mar; 13(3):221-5. PMID: 2365957
A neonatal screening for both 21-hydroxylase and 11-beta-hydroxylase deficiencies, responsible for congenital adrenal hyperplasia (CAH), has been conducted in Campania Region, Southern Italy. In 4380 neonates, aged 2-10 days, capillary...