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Amelia Morrone
Amelia Morrone
University of Florence, Meyer Children’s Hospital, Florence, Italy
Verified email at meyer.it
Title
Cited by
Cited by
Year
Senescence‐associated β‐galactosidase is lysosomal β‐galactosidase
BY Lee, JA Han, JS Im, A Morrone, K Johung, EC Goodwin, WJ Kleijer, ...
Aging cell 5 (2), 187-195, 2006
14982006
Lysosomal storage disorders: molecular basis and laboratory testing
M Filocamo, A Morrone
Human genomics 5, 1-14, 2011
1762011
The enigmatic role of tafazzin in cardiolipin metabolism
RH Houtkooper, M Turkenburg, BT Poll-The, D Karall, C Pérez-Cerdá, ...
Biochimica et Biophysica Acta (BBA)-Biomembranes 1788 (10), 2003-2014, 2009
1752009
GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings
A Caciotti, SC Garman, Y Rivera-Colón, E Procopio, S Catarzi, L Ferri, ...
Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1812 (7), 782-790, 2011
1682011
RNA metabolism in myotonic dystrophy: patient muscle shows decreased insulin receptor RNA and protein consistent with abnormal insulin resistance.
A Morrone, E Pegoraro, C Angelini, E Zammarchi, G Marconi, EP Hoffman
The journal of clinical investigation 99 (7), 1691-1698, 1997
951997
Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers
A Morrone, C Cavicchi, T Bardelli, D Antuzzi, R Parini, M Di Rocco, ...
Journal of medical genetics 40 (8), e103-e103, 2003
842003
Angiokeratoma: decision‐making aid for the diagnosis of Fabry disease
A Zampetti, CH Orteu, D Antuzzi, MR Bongiorno, S Manco, M Gnarra, ...
British Journal of Dermatology 166 (4), 712-720, 2012
802012
β‐galactosidase gene mutations affecting the lysosomal enzyme and the elastin‐binding protein in GM1‐gangliosidosis patients with cardiac involvement
A Morrone, T Bardelli, MA Donati, M Giorgi, M Di Rocco, R Gatti, R Parini, ...
Human mutation 15 (4), 354-366, 2000
802000
Morquio A Syndrome‐Associated Mutations: A Review of Alterations in the GALNS Gene and a New Locus‐Specific Database
A Morrone, A Caciotti, R Atwood, K Davidson, C Du, P Francis‐Lyon, ...
Human mutation 35 (11), 1271-1279, 2014
752014
A guideline for the diagnosis of pediatric mitochondrial disease: the value of muscle and skin biopsies in the genetics era
SB Wortmann, JA Mayr, JM Nuoffer, H Prokisch, W Sperl
Neuropediatrics 48 (04), 309-314, 2017
732017
Galactosialidosis: review and analysis of CTSA gene mutations
A Caciotti, S Catarzi, R Tonin, L Lugli, CR Perez, H Michelakakis, ...
Orphanet journal of rare diseases 8, 1-9, 2013
662013
Intrafamilial phenotypic variability in four families with Anderson‐Fabry disease
M Rigoldi, D Concolino, A Morrone, F Pieruzzi, R Ravaglia, F Furlan, ...
Clinical Genetics 86 (3), 258-263, 2014
652014
Functional studies of new GLA gene mutations leading to conformational Fabry disease
C Filoni, A Caciotti, L Carraresi, C Cavicchi, R Parini, D Antuzzi, ...
Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1802 (2), 247-252, 2010
652010
Role of β‐galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1‐gangliosidosis
A Caciotti, MA Donati, A Boneh, A d'Azzo, A Federico, R Parini, D Antuzzi, ...
Human mutation 25 (3), 285-292, 2005
642005
Role of β‐galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1‐gangliosidosis
A Caciotti, MA Donati, A Boneh, A d'Azzo, A Federico, R Parini, D Antuzzi, ...
Human mutation 25 (3), 285-292, 2005
642005
Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations
A Morrone, KL Tylee, M Al-Sayed, AC Brusius-Facchin, A Caciotti, ...
Molecular Genetics and Metabolism 112 (2), 160-170, 2014
592014
Coronary microvascular dysfunction is an early feature of cardiac involvement in patients with Anderson–Fabry disease
B Tomberli, F Cecchi, R Sciagra, V Berti, F Lisi, F Torricelli, A Morrone, ...
European journal of heart failure 15 (12), 1363-1373, 2013
592013
Hypocitrullinemia in expanded newborn screening by LC–MS/MS is not a reliable marker for ornithine transcarbamylase deficiency
C Cavicchi, S Malvagia, G la Marca, S Gasperini, MA Donati, ...
Journal of pharmaceutical and biomedical analysis 49 (5), 1292-1295, 2009
542009
Founder mutation causing infantile GM1-gangliosidosis in the Gypsy population
I Sinigerska, D Chandler, V Vaghjiani, I Hassanova, R Gooding, ...
Molecular genetics and metabolism 88 (1), 93-95, 2006
532006
Primary and secondary elastin-binding protein defect leads to impaired elastogenesis in fibroblasts from GM1-gangliosidosis patients
A Caciotti, MA Donati, T Bardelli, A d'Azzo, G Massai, L Luciani, ...
The American journal of pathology 167 (6), 1689-1698, 2005
532005
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