A. MORRONE, H. MORREAU, X.Y. ZHOU, E. ZAMMARCHI, W.J. KLEIJER, H. GALJAARD, A. d'AZZO: Insertion of a T Next to the Donor Splice Site of Intron 1 Causes Aberrantly Spliced mRNA in a Case of Infantile GM1-Gangliosidosis. Hum mutat 3: 112-120,1994 

               E. ZAMMARCHI, M.A. DONATI, L. FILIPPI, A. MORRONE, T. REPETTO, G. MASCOLO, L. COMELLINI: Ipertransaminasemia e difetto di ornitinatranscarbamilasi. Riv Ital Pediatr 21:82-87,1995. 

      A. FIDZIANSKA, A. MORRONE, E. PEGORARO, B. RYNIEWICZ, A. ILNICKA. E. ZAMMARCHI, E.P. HOFFMAN: An X:autosome translocation stabilizes truncated dystrophin: implications for lack of truncated dystrophins in Duchenne muscular dystrophy. Neuropediatrics 26:163-167,1995. 

               E. Zammarchi, M. A. Donati, A. Morrone, G.P. donzelli, x.y. zhou, a. dazzo: Early-infantile galactosialidosis: clinical, biochemical, and molecular observations in a new case. Am J Med Genet. 64: 453-458, 1996.

               X.Y. Zhou, A. van der Spoel, R. Rottier, G. Hale, R. Willemsen, G.T. Berry, P. Strisciuglio, A. Morrone, E. Zammarchi, G. Andria, A. d'Azzo: Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis. Hum Mol Genet 5:1977-87,

               A. MORRONE, E. PEGORARO, C. ANGELINI, E. ZAMMARCHI, G. MARCONI, E.P. HOFFMAN: RNA Metabolism in Myotonic Dystrophy. J Clin Invest 99:1691-1698,1997.

               A. MORRONE, E. ZAMMARCHI, M.A. DONATI; P.C. SCHACHERI, R.C. HOOP, S. SERVIDEI, G. GALLUZZI, E. P. HOFFMAN: Asymptomatic dystrophinopathy. Am J Med Genet: 69:261-267, 1997.

                A. MORRONE, T. BARDELLI, M.A. DONATI, M. GIORGI, M. DI ROCCO, R. GATTI, R. PARINI, R. RICCI, G. TADDEUCCI, A. dAZZO, E. ZAMMARCHI: -Galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement. Hum Mut 15: 354-366, 2000.

                M. GIORGI, A. MORRONE, M.A. DONATI, F. CIANI, T. BARDELLI, G. BIASUCCI, E. ZAMMARCHI: Lymphocytes mRNA analysis of the Ornithine Transcarbamilase gene in Italian OTCD male patients and manifesting carriers: identification of novel mutations. Hum Mutat 15:380-1, 2000.

                B. PORFIRIO, I. CHIARELLI, C. GRAZIANO, A. MANNONI, A. MORRONE, E. ZAMMARCHI, D. B. DE BERNABE, S. R. DE CORDOBA: Alkaptonuria in Italy: polymorphic haplotype background, mutational profile and description of four novel mutations in the homogentisate 1,2-dioxygenase gene. J Med Genet 37: 309-312, 2000.

                FUNGHINI S, PASQUINI E, CAPPELLINI M, DONATI MA, MORRONE A, FONDA C, ZAMMARCHI E.: 3-Hydroxy-3-methylglutaric aciduria in an Italian patient is caused by a new nonsense mutation in the HMGCL gene. Mol Genet Metab 2001 Jul;73(3):268-75

                BISANZI S, MORRONE A, DONATI MA, PASQUINI E, SPADA M, STRISCIUGLIO P, PARENTI G, PARINI R, PAPADIA F, ZAMMARCHI E.: Genetic analysis in nine unrelated Italian patients affected by OTC deficiency: detection of novel mutations in the OTC gene. Mol Genet Metab. 2002 Jun;76(2):137-44.

                A. MORRONE, S. MALVAGIA, M.A. DONATI, S. FUNGHINI, F. CIANI, I. PELA, A. BONEH, H. PETERS, E. PASQUINI, E. ZAMMARCHI: Clinical Findings, Biochemical and Molecular Analysis of Four Patients with Holocarboxylase Synthetase Deficiency. Am. J. Med. Genet  2002 111:10-18

                S. FUNGHINI, M.A.DONATI, E. PASQUINI,  S. GASPERINI, F.CIANI, A. MORRONE, E. ZAMMARCHI.: Two new mutations in children affected by partial biotinidase deficiency ascertained by newborn screening. J Inher Metab Dis 2002; 25: 328-330.

                BARDELLI T, DONATI M.A, GASPERINI S, CIANI F, BELLI F, BLAU N, MORRONE A, ZAMMARCHI E.: Two novel genetic lesions and a common BH(4)-responsive mutation of the PAH gene in Italian patients with hyperphenylalaninemia. Mol Genet Metab 2002 Nov;77(3):260-6

         CACIOTTI A, MORRONE A, DOMENICI R, DONATI M.A., ZAMMARCHI E: Severe Prognosis in a Large Family with Hypokalemic Periodic Paralysis. Muscle Nerve : Feb;27(2):165-9; 2003 

       CACIOTTI A, BARDELLI T, CUNNINGHAM J, D'AZZO A, ZAMMARCHI E, MORRONE A.: Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient. . Human Genetics 2003 Jul;113(1):44-50.

       MALVAGIA S, POGGI G. M., PASQUINI E., DONATI M.A., PELA I., MORRONE A., ZAMMARCHI E.: The de novo Q167K mutation in the POU1F1 gene leads to combined pituitary hormone deficiency in an Italian patient. Pediatr Res. 2003 Nov;54(5):635-40.

       A. MORRONE, C. CAVICCHI, T. BARDELLI, D. ANTUZZI, R. PARINI, M. DI ROCCO, S. FERIOZZI, O. GABRIELLI, R. BARONE, G. PISTONE, C. SPISNI, R. RICCI, E. ZAMMARCHI: Fabry disease: molecular studies in Italian patients and X-inactivation analysis in manifesting carriers. J Med Genet 2003 J Med Aug;40(8):e103. 

       FUNGHINI S, DONATI MA, PASQUINI E, ZAMMARCHI E, MORRONE A.: Structural organization of the human carbamyl phosphate synthetase I gene (CPS1) and identification of two novel genetic lesions. Hum Mutat. 2003 Oct;22(4):340-1.

        LA MARCA G, MALVAGIA S, DONATI MA, MORRONE A, PASQUINI E, ZAMMARCHI E.: Rapid diagnosis of medium chain Acyl Co-A dehydrogenase (MCAD) deficiency in a newborn by liquid chromatography/tandem mass spectrometry. Rapid Commun Mass Spectrom. 2003; 17(23): 2688-92.

        M.A. DONATI, A. CACIOTTI, T. BARDELLI, C. DANI, A. D'AZZO, A. MORRONE, E. ZAMMARCHI: Congenital sialidosis - from hydrops fetalis to hydrocephalus.Ital J Pediatr 2003,29(6):404-410

        S. MALVAGIA, A. MORRONE, A. CACIOTTI, T. BARDELLI, A. DAZZO, G. ANCORA, E. ZAMMARCHI, M. A. DONATI: New mutations in the PPBG gene lead to loss of PPCA protein which affects the level of the b-galactosidase/neuraminidase complex and the EBP-receptor. Mol Genet Metab 2004 82(1):48-55.

       RICCI R, CASTORINA M, DI LILLO M, ANTUZZI D, FRUSTACI A, PARINI R, MENNI F, FURLAN F, BURLINA A, BURLINA A, CATUOGNO S, GABRIELLI O, BURATTINI I, BORSINI W, BUCHNER S, FERRIOZZI S, SPISNI C, DE VITO R, DI ROCCO M, ARICO M, PISTONE G, BONGIORNO AM, MORRONE A, CAVICCHI C, ZAMMARCHI E: Fabry disease in Italy: first epidemiologic and collaborative study. Ann Ital Med Int. 2004 Oct-Dec;19(4):269-75.

       GEORGIOU T, DROUSIOTOU A, CAMPOS Y, CACIOTTI A, SZTRIHA L, GURURAJ A, OZAND P, ZAMMARCHI E, MORRONE A, D'AZZO A: Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis. Hum Mutat. 2004 Oct;24(4):352. (I.F. 6.69).

           A Caciotti, M A Donati, A Boneh, A dAzzo, A Federico, R Parini, D Antuzzi, T Bardelli, D Nosi, V Kimonis, E Zammarchi, A Morrone: Role of b-galactosidase and Elastin Binding Protein in Lysosomal and non Lysosomal multienzyme complexes of GM1-gangliosidosis patients. Hum Mutat. 2005 Mar;25(3):285-92.

     ..GEORGIOU T, STYLIANIDOU G, ANASTASIADOU V, CACIOTTI A, CAMPOS Y, ZAMMARCHI E, MORRONE A, D'AZZO A, DROUSIOTOU A.: The Arg482His mutation in the beta-galactosidase gene is responsible for a high frequency of GM1 gangliosidosis carriers in a Cypriot village. Genet Test. 2005 Summer;9(2):126-32.

     .DROUSIOTOU A, GEORGIOU T, DROUSIOTOU A, CAMPOS Y, CACIOTTI A, SZTRIHA L, GURURAJ A, OZAND P, ZAMMARCHI E, MORRONE A, D AZZO A.: Gene symbol: GLB1. Disease: GM1 gangliosidosis infantile. Hum Genet. 2005 May;116(6):534.

     DROUSIOTOU A, GEORGIOU T, DROUSIOTOU A, CAMPOS Y, CACIOTTI A, SZTRIHA L, GURURAJ A, OZAND P, ZAMMARCHI E, MORRONE A, D AZZO AGene symbol: GLB1. Disease: GM1 gangliosidosis infantile. Hum Genet. 2005 May;116(6):542.

     ..S. FUNGHINI, A. MORRONE, E. PASQUINI, E. ZAMMARCHI, M.A. DONATI: Successful prenatal molecular diagnosis of Carbamyl Phosphate Syntetase I deficiency in two at risk pregnancies. J Inherit Metab Dis. 2005;28(5):801-2.

           GEORGIOU T, STYLIANIDOU G, ANASTASIADOU V, CACIOTTI A, CAMPOS Y, ZAMMARCHI E, MORRONE A, D'AZZO A, DROUSIOTOU A: The Arg482His Mutation in the -Galactosidase Gene Is Responsible for a High Frequency of GM1 Gangliosidosis Carriers in a Cypriot Village. Genet Test. 2005 Summer;9(2):126-32.

           S. MALVAGIA, A. MORRONE, E. PASQUINI, S. FUNGHINI, G. LA MARCA, E. ZAMMARCHI, M. A. DONATI: First prenatal molecular diagnosis in a family with holocarboxylase synthetase deficiency. Prenatal Diagnosis 2005, Dec;25(12):1117-9.

           A CACIOTTI, M A DONATI, T BARDELLI, A DAZZO, G MASSAI, L LUCIANI, E ZAMMARCHI, A MORRONE: Primary and secondary elastin binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients. Am J Pathol. 2005 Dec;167(6):1689-9;.

           CAVICCHI, M.A. DONATI, E. PASQUINI, G.M. POGGI, C. DIONISI-VICI, R. PARINI, E. ZAMMARCHI, A. MORRONE: Spectrum In Ten Italian Patients Affected By Methylmalonyl-Coa Mutase Deficiency. . J Inherit Metab Dis. 2005;28(6):1175-8.

           .CAVICCHI C, DONATI MA, FUNGHINI S, LA MARCA G, MALVAGIA S, CIANI F, POGGI GM, PASQUINI E, ZAMMARCHI E, MORRONE A: Genetic And Metabolic Approach To Early Prenatal Diagnosis In A Family With Mut Methylmalonic Aciduria.. Clin Genet 2006, Jan V 69:72-76.

     I SINIGERSKA, D CHANDLER, V VAGHJIANI, I HASSANOVA, R GOODING, A MORRONE, I KREMENSKY, L KALAYDJIEVA Founder mutation R59H in GLB1 is a common cause of infantile GM1-gangliosidosis in the Gypsy population Mol Genet Metab. 2006 May;88(1):93-5.

     ...BURLINA AB, PEDUTO A, PALMA AD, BELLIZZI A, SPERLI D, MORRONE A, BURLINA AP: An unusual clinical and biochemical presentation of ornithine transcarbamylase deficiency in a male patient. J Inherit Metab Dis. 2006;29(1):179-81.

     LEE BY, HAN JA, IM JS, MORRONE A, JOHUNG K, GOODWIN EC, KLEIJER WJ, DIMAIO D, HWANG ES: Senescence-associated beta-galactosidase is lysosomal beta-galactosidase. Aging Cell. 2006 Apr;5(2):187-195.

      DONATI MA, MALVAGIA S, PASQUINI E, MORRONE A, LA MARCA G, GARAVAGLIA B, TONIOLO D, ZAMMARCHI E: Barth syndrome presenting with acute metabolic decompensation in the neonatal period. J Inherit Metab Dis. 2006 Oct;29(5):684.

     FERIOZZI S, SANZ TORRE E, RANALLI T V, CARDELLO P, MORRONE A,  ANCARANI E: A diagnosis of Fabry gastrointestinal disease by chance: a case report. Eur J Gastroenterol Hepatol. 2007 Feb;19(2):163-5.

     CACIOTTI A., DONATI MA, PROCOPIO E., FILOCAMO M., KLEIJER W., WUYTS W., BLAUMEISER B., DAZZO A., SIMI L., ORLANDO C., MCKENZIE F., FIUMARA A., ZAMMARCHI E., MORRONE A.: GM1 gangliosidosis: molecular analysis of 9 patients and development of an RT-PCR assay for GLB1 gene expression profiling. Hum Mut. 2007 Feb;28(2):204.

     MALVAGIA S, PAPI L, MORRONE A, DONATI MA, CIANI F, PASQUINI E, LA MARCA G,SCHOLTE HR, GENUARDI M, ZAMMARCHI E.:  Fatal Malonyl CoA Decarboxylase Deficiency Due to Maternal Uniparental Isodisomy of the Telomeric End of Chromosome 16. Ann Hum Genet. 2007 Nov; 71(Pt 6):705-12.