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
J Alzheimers Dis (ISSN: 1387-2877, 1387-2877linking), 2014; 41(3): 709-714.

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
Hum Mutat (ISSN: 1059-7794, 1098-1004, 1098-1004electronic), 2011 Dec; 32(12): 1460-1469.

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
Neurol Sci (ISSN: 1590-1874, 1590-3478, 1590-1874linking), 2011 Feb; 32(1): 117-123.

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
Neurogenetics (ISSN: 1364-6745, 1364-6753, 1364-6753electronic), 2011 Feb; 12(1): 33-39.

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
J Neurol (ISSN: 0340-5354, 1432-1459, 1432-1459electronic), 2010 Mar; 257(3): 328-331.

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
J Neurol (ISSN: 0340-5354, 1432-1459, 1432-1459electronic), 2009 Aug; 256(8): 1252-1257.

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
Parkinsonism Relat D (ISSN: 1353-8020print, 1353-8020linking, 1873-5126electronic), 2009 Mar; 15(3): 242-244.

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
Journal Of Clinical Endocrinology & Metabolism (ISSN: 0021-972x), 2008 Sep; 93(9): 3541-3550.

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
Bba-Gen Subjects (ISSN: 0925-4439, 0006-3002, 1570-9639), 2008 Jun; 1782(6): 378-384.

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]
J Neurol (ISSN: 0340-5354, 1432-1459, 1432-1459electronic), 2007 Sep; 254(8): 1133-1134.

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
Neurology (ISSN: 0028-3878, 1526-632x, 1526-632xelectronic), 2004 Dec 14; 63(11): 2097-2103.