Works by Morrone, Amelia

Results: 68
    1

    Newborn Screening for Metachromatic Leukodystrophy in Tuscany: The Paradigm of a Successful Preventive Medicine Program.

    Published in:
    International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 2, p. 30, doi. 10.3390/ijns11020030
    By:
    • Malvagia, Sabrina;
    • Bettiol, Alessandra;
    • Porcaro, Margherita;
    • Mura, Massimo;
    • Funghini, Silvia;
    • Ombrone, Daniela;
    • Forni, Giulia;
    • Scolamiero, Emanuela;
    • Coppi, Filippo;
    • Damiano, Roberta;
    • Cereda, Cristina;
    • Simonetti, Simonetta;
    • Lonetti, Annalisa;
    • Daniotti, Marta;
    • Caciotti, Anna;
    • Morrone, Amelia;
    • Calbi, Valeria;
    • Fumagalli, Francesca;
    • Aiuti, Alessandro;
    • Procopio, Elena
    Publication type:
    Article
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    Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG).

    Published in:
    Cerebellum, 2021, v. 20, n. 4, p. 596, doi. 10.1007/s12311-021-01242-x
    By:
    • Pettinato, Fabio;
    • Mostile, Giovanni;
    • Battini, Roberta;
    • Martinelli, Diego;
    • Madeo, Annalisa;
    • Biamino, Elisa;
    • Frattini, Daniele;
    • Garozzo, Domenico;
    • Gasperini, Serena;
    • Parini, Rossella;
    • Sirchia, Fabio;
    • Sortino, Giuseppe;
    • Sturiale, Luisa;
    • Matthijs, Gert;
    • Morrone, Amelia;
    • Di Rocco, Maja;
    • Rizzo, Renata;
    • Jaeken, Jaak;
    • Fiumara, Agata;
    • Barone, Rita
    Publication type:
    Article
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    Multicenter evaluation of use of dried blood spot compared to conventional plasma in measurements of globotriaosylsphingosine (LysoGb3) concentration in 104 Fabry patients.

    Published in:
    Clinical Chemistry & Laboratory Medicine, 2021, v. 59, n. 9, p. 1516, doi. 10.1515/cclm-2021-0316
    By:
    • Malvagia, Sabrina;
    • Ferri, Lorenzo;
    • Della Bona, Maria;
    • Borsini, Walter;
    • Cirami, Calogero Lino;
    • Dervishi, Egrina;
    • Feriozzi, Sandro;
    • Gasperini, Serena;
    • Motta, Serena;
    • Mignani, Renzo;
    • Trezzi, Barbara;
    • Pieruzzi, Federico;
    • Morrone, Amelia;
    • Daniotti, Marta;
    • Donati, Maria Alice;
    • la Marca, Giancarlo
    Publication type:
    Article
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    Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature.

    Published in:
    International Journal of Molecular Sciences, 2018, v. 19, n. 2, p. 345, doi. 10.3390/ijms19020345
    By:
    • Cavicchi, Catia;
    • Chilleri, Chiara;
    • Fioravanti, Antonella;
    • Ferri, Lorenzo;
    • Ripandelli, Francesco;
    • Costa, Cinzia;
    • Calabresi, Paolo;
    • Prontera, Paolo;
    • Pochiero, Francesca;
    • Pasquini, Elisabetta;
    • Funghini, Silvia;
    • la Marca, Giancarlo;
    • Donati, Maria Alice;
    • Morrone, Amelia
    Publication type:
    Article
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    Iminosugar‐Dihydroazulenes as Mutant L444P Glucocerebrosidase Enhancers.

    Published in:
    Chemistry & Biodiversity, 2024, v. 21, n. 8, p. 1, doi. 10.1002/cbdv.202401104
    By:
    • Davighi, Maria Giulia;
    • Clemente, Francesca;
    • Andreasen, Emilie Sperling;
    • Nielsen, Mogens Brøndsted;
    • Matassini, Camilla;
    • Goti, Andrea;
    • Morrone, Amelia;
    • Paoli, Paolo;
    • Cardona, Francesca;
    • Cacciarini, Martina
    Publication type:
    Article
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    High Prevalence of GALC Gene Variants in Adults With Neurodegenerative Conditions.

    Published in:
    European Journal of Neurology, 2025, v. 32, n. 5, p. 1, doi. 10.1111/ene.70206
    By:
    • Feo, Federica;
    • Tramacere, Luciana;
    • Ramat, Silvia;
    • Govoni, Alessandra;
    • Caremani, Luca;
    • Grigioni, Giulia;
    • Mei, Davide;
    • Falliano, Silvia;
    • Marin, Francesca;
    • Ferri, Lorenzo;
    • Paoli, Antonella;
    • Rinaldi, Marina;
    • la Marca, Giancarlo;
    • Ombrone, Daniela;
    • Procopio, Elena;
    • Guerrini, Renzo;
    • Morrone, Amelia;
    • Caciotti, Anna
    Publication type:
    Article
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    Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content.

    Published in:
    Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-019-53995-5
    By:
    • Tonin, Rodolfo;
    • Caciotti, Anna;
    • Procopio, Elena;
    • Fischetto, Rita;
    • Deodato, Federica;
    • Mancardi, Maria Margherita;
    • Di Rocco, Maja;
    • Ardissone, Anna;
    • Salviati, Alessandro;
    • Marangi, Antonio;
    • Strisciuglio, Pietro;
    • Mangone, Giusi;
    • Casini, Arianna;
    • Ricci, Silvia;
    • Fiumara, Agata;
    • Parini, Rossella;
    • Pavone, Francesco Saverio;
    • Guerrini, Renzo;
    • Calamai, Martino;
    • Morrone, Amelia
    Publication type:
    Article
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    Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment.

    Published in:
    Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0105-9
    By:
    • Cavicchi, Catia;
    • Donati, Maria Alice;
    • Parini, Rossella;
    • Rigoldi, Miriam;
    • Bernardi, Mauro;
    • Orfei, Francesca;
    • Silveri, Nicolò Gentiloni;
    • Colasante, Aniello;
    • Funghini, Silvia;
    • Catarzi, Serena;
    • Pasquini, Elisabetta;
    • La Marca, Giancarlo;
    • Mooney, Sean David;
    • Guerrini, Renzo;
    • Morrone, Amelia
    Publication type:
    Article
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    Galactosialidosis: review and analysis of CTSA gene mutations.

    Published in:
    Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-114
    By:
    • Caciotti, Anna;
    • Catarzi, Serena;
    • Tonin, Rodolfo;
    • Lugli, Licia;
    • Perez, Carmen Rodriguez;
    • Michelakakis, Helen;
    • Mavridou, Irene;
    • Donati, Maria Alice;
    • Guerrini, Renzo;
    • D'Azzo, Alessandra;
    • Morrone, Amelia
    Publication type:
    Article
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    New clinical and molecular insights on Barth syndrome.

    Published in:
    Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-27
    By:
    • Ferri, Lorenzo;
    • Donati, Maria Alice;
    • Funghini, Silvia;
    • Malvagia, Sabrina;
    • Catarzi, Serena;
    • Lugli, Licia;
    • Ragni, Luca;
    • Bertini, Enrico;
    • Vaz, Frédéric M.;
    • Cooper, David N.;
    • Guerrini, Renzo;
    • Morrone, Amelia
    Publication type:
    Article
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    New clinical and molecular insights on Barth syndrome.

    Published in:
    2013
    By:
    • Ferri, Lorenzo;
    • Donati, Maria Alice;
    • Funghini, Silvia;
    • Malvagia, Sabrina;
    • Catarzi, Serena;
    • Lugli, Licia;
    • Ragni, Luca;
    • Bertini, Enrico;
    • Vaz, Frédéréc M;
    • Cooper, David N;
    • Guerrini, Renzo;
    • Morrone, Amelia;
    • Vaz, Frédéric M
    Publication type:
    journal article
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    Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B<sub>12</sub>.

    Published in:
    Clinical Epigenetics, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13148-022-01271-1
    By:
    • Oussalah, Abderrahim;
    • Siblini, Youssef;
    • Hergalant, Sébastien;
    • Chéry, Céline;
    • Rouyer, Pierre;
    • Cavicchi, Catia;
    • Guerrini, Renzo;
    • Morange, Pierre-Emmanuel;
    • Trégouët, David;
    • Pupavac, Mihaela;
    • Watkins, David;
    • Pastinen, Tomi;
    • Chung, Wendy K.;
    • Ficicioglu, Can;
    • Feillet, François;
    • Froese, D. Sean;
    • Baumgartner, Matthias R.;
    • Benoist, Jean-François;
    • Majewski, Jacek;
    • Morrone, Amelia
    Publication type:
    Article
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