Two novel genetic lesions and a common BH4-responsive mutation of the PAH gene in Italian patients with hyperphenylalaninemia

by Bardelli, T, Donati, M A, Gasperini, S, Ciani, F, Belli, F, Blau, N, Morrone, A, Zammarchi, E
Published in Molecular genetics and metabolism

Effect of ramipril in a patient with glycogen storage disease type I and nephrotic‐range proteinuria

by Pela, I., Donati, M. A., Zammarchi, E.
Published in Journal of inherited metabolic disease

3-Hydroxy-3-methylglutaric Aciduria in an Italian Patient Is Caused by a New Nonsense Mutation in the HMGCL Gene

by Funghini, S., Pasquini, E., Cappellini, M., Donati, M.A., Morrone, A., Fonda, C., Zammarchi, E.
Published in Molecular genetics and metabolism

Genetic analysis in nine unrelated Italian patients affected by OTC deficiency: detection of novel mutations in the OTC gene

by Bisanzi, S, Morrone, A, Donati, M.A, Pasquini, E, Spada, M, Strisciuglio, P, Parenti, G, Parini, R, Papadia, F, Zammarchi, E
Published in Molecular genetics and metabolism

Fatal neonatal outcome in a case of muscular mitochondrial DNA depletion

by Poggi, G. M., Lamantea, E., Ciani, F., Donati, M. A., Carrara, F., Bartalena, L., Garavaglia, B., Zammarchi, E.
Published in Journal of inherited metabolic disease

GALNS gene expression profiling in Morquio A patients' fibroblasts

by Carraresi, L., Parini, R., Filoni, C., Caciotti, A., Sersale, G., Tomatsu, S., Orlando, C., Zammarchi, E., Guerrini, R., Donati, M.A., Morrone, A.
Published in Clinica chimica acta

Neonatal onset of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with favorable outcome

by ZAMMARCHI, E, CIANI, F, PASQUINI, E, BONOCORE, G, SHIH, V. E, DONATI, M. A
Published in The Journal of pediatrics

Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosis

by Bonten, E J, Arts, W F, Beck, M, Covanis, A, Donati, M A, Parini, R, Zammarchi, E, d'Azzo, A
Published in Human molecular genetics

Structural organization of the human carbamyl phosphate synthetase I gene (CPS1) and identification of two novel genetic lesions

by Funghini, S., Donati, M.A., Pasquini, E., Zammarchi, E., Morrone, A.
Published in Human mutation

Fish intake is associated with lower cardiovascular risk in a Mediterranean population: Prospective results from the Moli-sani study

by Bonaccio, M., Ruggiero, E., Di Castelnuovo, A., Costanzo, S., Persichillo, M., De Curtis, A., Cerletti, C., Donati, M.B., de Gaetano, G., Iacoviello, L., Iacoviello, L., Donati, M.B., de Gaetano, G., Vermylen, J., De Paula Carrasco, I., Giampaoli, S., Spagnuolo, A., Assanelli, D., Centritto, V., Spagnuolo, P., Staniscia, D., Zito, F., Bonanni, A., Cerletti, C., De Curtis, A., Di Castelnuovo, A., Lorenzet, R., Mascioli, A., Olivieri, M., Rotilio, D., Bonaccio, M., Costanzo, S., Gianfagna, F., Giacci, M., Padulo, A., Petraroia, D., Magnacca, S., Marracino, F., Spinelli, M., Silvestri, C., dell’Elba, G., Grippi, C., De Lucia, F., Vohnout, B., Persichillo, M., Verna, A., Di Lillo, M., Di Stefano, I., Pampuch, A., Pannichella, A., Vizzarri, A.R., Arcari, A., Barbato, D., Bracone, F., Di Giorgio, C., Panebianco, S., Chiovitti, A., Caccamo, S., Caruso, V., Rago, L., Cugino, D., Ferri, A., Castaldi, C., Mignogna, M., Guszcz, T., di Giuseppe, R., Barisciano, P., Buonaccorsi, L., Centritto, F., Cutrone, A., Fanelli, F., Santimone, I., Sciarretta, A., Sorella, I., Plescia, E., Molinaro, A., Cavone, C., Galuppo, G., D'Angelo, D., Ramacciato, R.
Published in Nutrition, metabolism, and cardiovascular diseases

Molecular analysis of 30 mucopolysaccharidosis type I patients: evaluation of the mutational spectrum in Italian population and identification of 13 novel mutations

by Venturi, N., Rovelli, A., Parini, R., Menni, F., Brambillasca, F., Bertagnolio, F., Uziel, G., Gatti, R., Filocamo, M., Donati, M.A., Biondi, A., Goldwurm, S.
Published in Human mutation

Prolonged exclusive breast-feeding from vegan mother causing an acute onset of isolated methylmalonic aciduria due to a mild mutase deficiency

by Ciani, F., Poggi, G.M., Pasquini, E., Donati, M.A., Zammarchi, E.
Published in Clinical nutrition (Edinburgh, Scotland)

Mutational analysis of the AGL gene: Five novel mutations in GSD III patients

by Lucchiari, S., Donati, M.A., Melis, D., Filocamo, M., Parini, R., Bresolin, N., Comi, G.P.
Published in Human mutation

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders

by Travaglini, Lorena, Brancati, Francesco, Silhavy, Jennifer, Iannicelli, Miriam, Nickerson, Elizabeth, Elkhartoufi, Nadia, Scott, Eric, Spencer, Emily, Gabriel, Stacey, Thomas, Sophie, Ben-Zeev, Bruria, Bertini, Enrico, Boltshauser, Eugen, Chaouch, Malika, Cilio, Maria Roberta, de Jong, Mirjam M, Kayserili, Hulya, Ogur, Gonul, Poretti, Andrea, Signorini, Sabrina, Uziel, Graziella, Zaki, Maha S, Johnson, Colin, Attié-Bitach, Tania, Gleeson, Joseph G, Valente, Enza Maria
Published in European journal of human genetics : EJHG

Molecular characterisation of GSD III subjects and identification of six novel mutations in AGL

by Lucchiari, S., Donati, M.A., Parini, R., Melis, D., Gatti, R., Bresolin, N., Scarlato, G., Comi, G.P.
Published in Human mutation

Prospective controlled study of home and hospital therapy of cystic fibrosis pulmonary disease

by Donati, Mary Alice, Guenette, Ginny, Auerbach, Harvey
Published in The Journal of pediatrics

Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome

by Garone, Caterina, D'Souza, Aaron R, Dallabona, Cristina, Lodi, Tiziana, Rebelo-Guiomar, Pedro, Rorbach, Joanna, Donati, Maria Alice, Procopio, Elena, Montomoli, Martino, Guerrini, Renzo, Zeviani, Massimo, Calvo, Sarah E, Mootha, Vamsi K, DiMauro, Salvatore, Ferrero, Ileana, Minczuk, Michal
Published in Human molecular genetics

Familial infantile myasthenia: a neuromuscular cause of respiratory failure

by ZAMMARCHI, E, DONATI, M. A, MASI, S, SARTI, A, CASTELLI, S
Published in Child's nervous system

Long term natural history data in ambulant boys with Duchenne muscular dystrophy: 36-month changes

by Pane, Marika, Mazzone, Elena Stacy, Sivo, Serena, Sormani, Maria Pia, Messina, Sonia, D'Amico, Adele, Carlesi, Adelina, Vita, Gianluca, Fanelli, Lavinia, Berardinelli, Angela, Torrente, Yvan, Lanzillotta, Valentina, Viggiano, Emanuela, D Ambrosio, Paola, Cavallaro, Filippo, Frosini, Silvia, Barp, Andrea, Bonfiglio, Serena, Scalise, Roberta, De Sanctis, Roberto, Rolle, Enrica, Graziano, Alessandra, Magri, Francesca, Palermo, Concetta, Rossi, Francesca, Donati, Maria Alice, Sacchini, Michele, Arnoldi, Maria Teresa, Baranello, Giovanni, Mongini, Tiziana, Pini, Antonella, Battini, Roberta, Pegoraro, Elena, Previtali, Stefano, Bruno, Claudio, Politano, Luisa, Comi, Giacomo P, Bertini, Enrico, Mercuri, Eugenio
Published in PloS one

Self-mutilation in a patient with mucolipidosis III

by Zammarchi, Enrico, Savelli, Angela, Donati, Maria A., Pasquini, Elisabetta
Published in Pediatric neurology