Testi S, Peluso S, Fabrizi GM, Antenora A, Russo CV, Pappata S, Padovani A, Ferrarini M, Filla A
* A novel PSEN1 mutation in a patient with sporadic early-onset Alzheimer's disease and prominent cerebellar ataxia (334 views)
J Alzheimers Dis (ISSN: 1387-2877, 1387-2877linking), 2014; 41(3): 709-714.
Impact Factor: 4.151
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Esposito G, De Falco F, Tinto N, Testa F, Vitagliano L, Tandurella IC, Iannone L, Rossi S, Rinaldi E, Simonelli F, Zagari A, Salvatore F
* Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with Rab geranylgeranyl transferase (1320 views)
Hum Mutat (ISSN: 1059-7794, 1098-1004, 1098-1004electronic), 2011 Dec; 32(12): 1460-1469.
Impact Factor: 5.686
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Dinacci D, Tessitore A, Russo AA, De Bonis ML, Lavorgna L, Picconi O, Sacco R, Bonavita S, Gallo A, Servillo G, Marcuccio L, Comerci M, Galletti P, Alfano B, Tedeschi G
* BDNF Val66Met polymorphism and brain volumes in multiple sclerosis (506 views) (PDF 258 views)
Neurol Sci (ISSN: 1590-1874, 1590-3478, 1590-1874linking), 2011 Feb; 32(1): 117-123.
Impact Factor: 1.315
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Santoro L, Breedveld GJ, Manganelli F, Iodice R, Pisciotta C, Nolano M, Punzo F, Quarantelli M, Pappata S, Di Fonzo A, Oostra BA, Bonifati V
* Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability (438 views)
Neurogenetics (ISSN: 1364-6745, 1364-6753, 1364-6753electronic), 2011 Feb; 12(1): 33-39.
Impact Factor: 3.354
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De Leva MF, Filla A, Criscuolo C, Tessa A, Pappata S, Quarantelli M, Bilo L, Peluso S, Antenora A, Longo DL, Santorelli FM, De Michele G
* Complex phenotype in an Italian family with a novel mutation in SPG3A (950 views)
J Neurol (ISSN: 0340-5354, 1432-1459, 1432-1459electronic), 2010 Mar; 257(3): 328-331.
Impact Factor: 3.853
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Criscuolo C, Filla A, Coppola G, Rinaldi C, Carbone R, Pinto S, Wang Q, De Leva MF, Salvatore E, Banfi S, Brunetti A, Quarantelli M, Geschwind DH, Pappata S, De Michele G
* Two novel CYP7B1 mutations in Italian families with SPG5: A clinical and genetic study (453 views)
J Neurol (ISSN: 0340-5354, 1432-1459, 1432-1459electronic), 2009 Aug; 256(8): 1252-1257.
Impact Factor: 2.903
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De Rosa A, Criscuolo C, Mancini P, De Martino M, Giordano IA, Pappata S, Filla A, De Michele G
* Genetic screening for LRRK2 gene G2019S mutation in Parkinson's disease patients from Southern Italy (320 views)
Parkinsonism Relat D (ISSN: 1353-8020print, 1353-8020linking, 1873-5126electronic), 2009 Mar; 15(3): 242-244.
Impact Factor: 2.406
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Vettor R, Granzotto M, De Stefani D, Trevellin E, Rossato M, Farina MG, Milan G, Pilon C, Nigro A, Federspil G, Vigneri R, Vitiello L, Rizzuto R, Baratta R, Frittitta L
* Loss-of-function mutation of the GPR40 gene associates with abnormal stimulated insulin secretion by acting on intracellular calcium mobilization (1258 views)
Journal Of Clinical Endocrinology & Metabolism (ISSN: 0021-972x), 2008 Sep; 93(9): 3541-3550.
Impact Factor: 6.325
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Daniele A, Cardillo G, Pennino C, Carbone MT, Scognamiglio D, Esposito L, Correra A, Castaldo G, Zagari A, Salvatore F
* Five human phenylalanine hydroxylase proteins identified in mild hyperphenylalaninemia patients are disease-causing variants (413 views)
Bba-Gen Subjects (ISSN: 0925-4439, 0006-3002, 1570-9639), 2008 Jun; 1782(6): 378-384.
Impact Factor: 2.233
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De Rosa A, Carducci C, Antonozzi I, Giovanniello T, Xhoxhi E, Criscuolo C, Menchise V, Striano S, Filla A, De Michele G
* A novel mutation in GCH-1 gene in a case of dopa-responsive dystonia [9] (433 views)
J Neurol (ISSN: 0340-5354, 1432-1459, 1432-1459electronic), 2007 Sep; 254(8): 1133-1134.
Impact Factor: 2.477
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Varrone A, Pellecchia MT, Amboni M, Sansone V, Salvatore E, Ghezzi D, Garavaglia B, Brice A, Brunetti A, Bonavita V, De Michele G, Salvatore M, Pappata S, Barone P
* Imaging of dopaminergic dysfunction with [123I]FP-CIT SPECT in early-onset parkin disease (4274 views)
Neurology (ISSN: 0028-3878, 1526-632x, 1526-632xelectronic), 2004 Dec 14; 63(11): 2097-2103.
Impact Factor: 5.973
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