MORRONE, AMELIA

MORRONE, AMELIA  

Neuroscienze, Psicologia, Area del Farmaco e Salute del Bambino (NEUROFARBA)  

Mostra records
Risultati 1 - 20 di 153 (tempo di esecuzione: 0.043 secondi).
Titolo Data di pubblicazione Autore(i) File
(5aR)-5a-C-Pentyl-4-epi-isofagomine: A powerful inhibitor of lysosomal β-galactosidase and a remarkable chaperone for mutations associated with GM1-gangliosidosis and Morquio disease type B 2017 Front, Sophie; Biela-Banaś, Anna; Burda, Patricie; Ballhausen, Diana; Higaki, Katsumi; Caciotti, Anna; Morrone, Amelia; Charollais-Thoenig, Julie; Gallienne, Estelle; Demotz, Stéphane; Martin, Olivier R
3,4,5-Trihydroxypiperidine Based Multivalent Glucocerebrosidase (GCase) Enhancers 2022 Costanza Vanni, Francesca Clemente, Paolo Paoli, Amelia Morrone, Camilla Matassini, Andrea Goti, Francesca Cardona
3-Hydroxy-3-methylglutaric aciduria in an Italian patient is caused by a new nonsense mutation in the HMGCL gene. 2001 S. FUNGHINI; E. PASQUINI; M. DONATI; A. MORRONE; E. ZAMMARCHI; M. CAPPELLINI; C. FONDA
3-Methylglutaconic Aciduria Type I Due to AUH Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature 2022 Nardecchia F.; Caciotti A.; Giovanniello T.; De Leo S.; Ferri L.; Galosi S.; Santagata S.; Torres B.; Bernardini L.; Carducci C.; Morrone A.; Leuzzi V.
A diagnosis of Fabry gastrointestinal disease by chance: a case report. 2007 FERIOZZI S; SANZ TORRE E; RANALLI T V; CARDELLO P; A. MORRONE; ANCARANI E
A genetic modifier of symptom onset in Pompe disease 2019 Bergsma, Atze J.; in 't Groen, Stijn L.M.; van den Dorpel, Jan J.A.; van den Hout, Hannerieke J.M.P.; van der Beek, Nadine A.M.E.; Schoser, Benedikt; Toscano, Antonio; Musumeci, Olimpia; Bembi, Bruno; Dardis, Andrea; Morrone, Amelia; Tummolo, Albina; Pasquini, Elisabetta; van der Ploeg, Ans T.; Pijnappel, W.W.M. Pim
Alkaptonuria in Italy: polymorphic haplotype background, mutational profile, and description of four novel mutations in the homogentisate 1,2-dioxygenase gene 2000 PORFIRIO B; CHIARELLI I; GRAZIANO C; MANNONI A; MORRONE A; E. ZAMMARCHI; DE BERNABE' DB; DE CORDOBA S R
Aminoacylase I deficiency due to ACY1 mRNA exon skipping. 2014 Ferri, L; Funghini, S; Fioravanti, A; Biondi, Eg; LA MARCA, Giancarlo; Guerrini, Renzo; Donati, Ma; Morrone, Amelia
Amphiphilic Iminosugar Pharmacological Chaperones towards beta-Glucocerebrosidase: Self-Assembly and Biological Activity 2023 Vanni, C; Cardona, F; Clemente, F; Morrone, A; Raudino, M; Ambrosi, M; Lo Nostro, P; Matassini, C
An unusual clinical and biochemical presentation of ornithine transcarbamylase deficiency in a male patient. 2006 BURLINA AB; PEDUTO A; PALMA AD; BELLIZZI A; SPERLI D; A. MORRONE; BURLINA AP
An X:autosome translocation stabilizes truncated dystrophin: implications for lack of truncated dystrophins in Duchenne muscular dystrophy. 1995 A. MORRONE; E. PEGORARO; E. ZAMMARCHI; E. HOFFMAN; A. FIDZIANSKA; B. RYNIEWICZ; A. ILNICKA
Anderson-Fabry's Disease: A Rare but Treatable Case of Fever of Unknown Origin 2017 Francesca Graziani, Aureliano Ruggio, Antonio Iaconelli, Elena Verrecchia, Amelia Morrone, Daniela Antuzzi , Filippo Crea, Raffaele Manna
Asymptomatic dystrophinopathy 1997 MORRONE A; E. ZAMMARCHI; DONATI MA; SCHACHERI PC; HOOP RC; SERVIDEI S; GALLUZZI G; HOFFMAN EP
Atypical beta galactosidase molecular composition in a juvenile GM1 gangliosidosis patient 2014 Tonin R; Caciotti A; Vasarri M; Reni S; De Nardi A; Guerrini R; Filocamo M; Morrone A
Barth syndrome presenting with acute metabolic decompensation in the neonatal period. 2006 Donati MA; Malvagia S; Pasquini E; Morrone A; La Marca G; Garavaglia B; Toniolo D; Zammarchi E.
Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know. 2018 Mirella Filocamo, Rosella Tomanin, Francesca Bertola; Amelia Morrone
Biotinidase deficiency due to a de novo mutation or gonadal mosaicism in a first child. 2015 Tonin R; Caciotti A; Funghini S; la Marca G; Pasquini E; Cayton E; Mooney SD; Guerrini R; Morrone A.
Carbamoyl phosphate synthetase 1 deficiency in Italy: clinical and genetic findings in a heterogeneous cohort. 2012 Funghini S; Thusberg J; Spada M; Gasperini S; Parini R; Ventura L; Meli C; De Cosmo L; Sibilio M; Mooney SD; Guerrini R; Donati MA; Morrone A.
Carbon Nanotubes/Regenerated Silk Composite as a Three-Dimensional Printable Bio-Adhesive Ink with Self-Powering Properties 2021 Bon S.B.; Chiesa I.; Degli Esposti M.; Morselli D.; Fabbri P.; De Maria C.; Morabito A.; Coletta R.; Calamai M.; Pavone F.S.; Tonin R.; Morrone A.; Giorgi G.; Valentini L.
Clinical and Molecular Aspects of Cardiomyopathies: Emerging Therapies and Clinical Trials 2018 Maurizi, Niccolò*; Ammirati, Enrico; Coppini, Raffaele; Morrone, Amelia; Olivotto, Iacopo