Cammisa M, Correra A, Andreotti G, Cubellis MV
Fabry_CEP: a tool to identify Fabry mutations responsive to pharmacological chaperones
Orphanet Journal Of Rare Diseases (ISSN: 1750-1172), 2013 Jul 24; 8: 111-111.

Riccio A, Cubellis MV
Gain of function in CDKN1C
Nature Genetics (ISSN: 1061-4036), 2012 Jul; 44(7): 737-738.

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.

Andreotti G, Citro V, De Crescenzo A, Orlando P, Cammisa M, Correra A, Cubellis MV
Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests
Orphanet Journal Of Rare Diseases (ISSN: 1750-1172), 2011 Oct 17; 6: 66-66.

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.

Andreotti G, Guarracino MR, Cammisa M, Correra A, Cubellis MV
Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of study
Orphanet Journal Of Rare Diseases (ISSN: 1750-1172), 2010 Dec 8; 5: 36-36.

Esposito G, Imperato MR, Ieno L, Sorvillo R, Benigno V, Parenti G, Parini R, Vitagliano L, Zagari A, Salvatore F
Hereditary Fructose Intolerance: Functional Study of Two Novel ALDOB Natural Variants and Characterization of a Partial Gene Deletion
Hum Mutat (ISSN: 1059-7794, 1098-1004, 1098-1004electronic), 2010 Dec; 31(12): 1294-1303.

Alfieri A, Pasanisi F, Salzano S, Esposito L, Martone D, Tafuri D, Daniele A, Contaldo F, Sacchetti L, Zagari A, Buono P
Functional analysis of melanocortin-4-receptor mutants identified in severely obese subjects living in Southern Italy
Gene (ISSN: 0378-1119), 2010 Jun 1; 457(1-2): 35-41.

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.

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.