Zobrazeno 1 - 10
of 176
pro vyhledávání: '"Olimpia Musumeci"'
Autor:
Antonio Toscano, Olimpia Musumeci, Michele Sacchini, Sabrina Ravaglia, Gabriele Siciliano, Agata Fiumara, Elena Verrecchia, Melania Maione, Jennifer Gentile, Rita Fischetto, Grazia Crescimanno, Roberta Taurisano, Annalisa Sechi, Serena Gasperini, Vittoria Cianci, Lorenzo Maggi, Rossella Parini, Antonino Lupica, Maurizio Scarpa
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-11 (2023)
Abstract Background The Italian Medicines Agency (AIFA) demands precise information on benefit/risk profile of home-based enzyme replacement therapy (ERT) for the treatment of patients with Pompe disease and Mucopolysaccharidosis type I (MPS I). This
Externí odkaz:
https://doaj.org/article/0a5becd85d924dc1b04b318ba6f147bc
Autor:
Walaa Karazi, Renata S. Scalco, Mads G. Stemmerik, Nicoline Løkken, Alejandro Lucia, Alfredo Santalla, Andrea Martinuzzi, Marinela Vavla, Gianluigi Reni, Antonio Toscano, Olimpia Musumeci, Carlyn V. Kouwenberg, Pascal Laforêt, Beatriz San Millán, Irene Vieitez, Gabriele Siciliano, Enrico Kühnle, Rebecca Trost, Sabrina Sacconi, Hacer Durmus, Biruta Kierdaszuk, Andrew Wakelin, Antoni L. Andreu, Tomàs Pinós, Ramon Marti, Ros Quinlivan, John Vissing, Nicol C. Voermans, EUROMAC Consortium
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)
Abstract Background The European registry for individuals with GSD5 and other muscle glycogenosis (EUROMAC) was launched to register rare muscle glycogenosis in Europe, to facilitate recruitment for research trials and to learn about the phenotypes a
Externí odkaz:
https://doaj.org/article/36d94750141a4f249b7874ba6c6e46e8
Autor:
Paola De Filippi, Edoardo Errichiello, Antonio Toscano, Tiziana Mongini, Maurizio Moggio, Sabrina Ravaglia, Massimiliano Filosto, Serenella Servidei, Olimpia Musumeci, Fabio Giannini, Alberto Piperno, Gabriele Siciliano, Giulia Ricci, Antonio Di Muzio, Miriam Rigoldi, Paola Tonin, Michele Giovanni Croce, Elena Pegoraro, Luisa Politano, Lorenzo Maggi, Roberta Telese, Alberto Lerario, Cristina Sancricca, Liliana Vercelli, Claudio Semplicini, Barbara Pasanisi, Bruno Bembi, Andrea Dardis, Ilaria Palmieri, Cristina Cereda, Enza Maria Valente, Cesare Danesino
Publikováno v:
Current Issues in Molecular Biology, Vol 45, Iss 4, Pp 2847-2860 (2023)
Pompe disease (PD) is a monogenic autosomal recessive disorder caused by biallelic pathogenic variants of the GAA gene encoding lysosomal alpha-glucosidase; its loss causes glycogen storage in lysosomes, mainly in the muscular tissue. The genotype–
Externí odkaz:
https://doaj.org/article/fb85d4b6cff3436c86279d7bcfd0dd27
Publikováno v:
Behavioral Sciences, Vol 13, Iss 12, p 956 (2023)
Pompe disease (PD) is a rare metabolic disorder with progressive neuromuscular consequences that negatively impact a child’s development and quality of life (QoL). Despite an improved prognosis with treatment, the risk for early death due cardiores
Externí odkaz:
https://doaj.org/article/ac87164bca2f4bc89618da5e266abb51
Autor:
Astrid Emilie Buch, Olimpia Musumeci, Ralph Wigley, Mads Peter Godtfeldt Stemmerik, Anne‐Sofie Vibæk Eisum, Karen Lindhardt Madsen, Nicolai Preisler, David Hilton‐Jones, Ros Quinlivan, Antonio Toscano, John Vissing
Publikováno v:
JIMD Reports, Vol 61, Iss 1, Pp 60-66 (2021)
Abstract Aim To investigate the in vivo skeletal muscle metabolism in patients with β‐enolase deficiency (GSDXIII) during exercise, and the effect of glucose infusion. Methods Three patients with GSDXIII and 10 healthy controls performed a nonisch
Externí odkaz:
https://doaj.org/article/8313443dd69843c1baabfa14bfbebf34
Autor:
Arianna Manini, Leonardo Caporali, Megi Meneri, Simona Zanotti, Daniela Piga, Ignazio Giuseppe Arena, Stefania Corti, Antonio Toscano, Giacomo Pietro Comi, Olimpia Musumeci, Valerio Carelli, Dario Ronchi
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Mitochondrial DNA (mtDNA) maintenance disorders embrace a broad range of clinical syndromes distinguished by the evidence of mtDNA depletion and/or deletions in affected tissues. Among the nuclear genes associated with mtDNA maintenance disorders, RN
Externí odkaz:
https://doaj.org/article/dea81be6a7b2422d9517c6157fe6e829
Autor:
Antonino Lupica, Rosaria Oteri, Sara Volta, Daniele Ghezzi, Selene Francesca Anna Drago, Carmelo Rodolico, Olimpia Musumeci, Antonio Toscano
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
BackgroundMultiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder of fatty acid oxidation due to deficiency of the mitochondrial electron transfer chain. The late-onset form is characterized by exercise intolerance, muscl
Externí odkaz:
https://doaj.org/article/a53109d9d3e04fc69abc5d5b15630425
Autor:
Arianna Manini, Megi Meneri, Carmelo Rodolico, Stefania Corti, Antonio Toscano, Giacomo Pietro Comi, Olimpia Musumeci, Dario Ronchi
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
The nuclear gene TK2 encodes the mitochondrial thymidine kinase, an enzyme involved in the phosphorylation of deoxycytidine and deoxythymidine nucleosides. Biallelic TK2 mutations are associated with a spectrum of clinical presentations mainly affect
Externí odkaz:
https://doaj.org/article/b5c28c6efce844de920d3d26d2604229
Autor:
Atze J. Bergsma, Stijn L.M. in 't Groen, Jan J.A. van den Dorpel, Hannerieke J.M.P. van den Hout, Nadine A.M.E. van der Beek, Benedikt Schoser, Antonio Toscano, Olimpia Musumeci, Bruno Bembi, Andrea Dardis, Amelia Morrone, Albina Tummolo, Elisabetta Pasquini, Ans T. van der Ploeg, W.W.M. Pim Pijnappel
Publikováno v:
EBioMedicine, Vol 43, Iss , Pp 553-561 (2019)
Background: Neonatal screening for Pompe disease is complicated by difficulties in predicting symptom onset in patients with the common c.-32-13T>G (IVS1) variant/null (i.e. fully deleterious) acid α-glucosidase (GAA) genotype. This splicing variant
Externí odkaz:
https://doaj.org/article/c609b87ce42d44c0bebf44fcafbb18b0
Autor:
Olimpia Musumeci, Edoardo Ferlazzo, Carmelo Rodolico, Antonio Gambardella, Monica Gagliardi, Umberto Aguglia, Antonio Toscano
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
GLUT1 Deficiency Syndrome (GLUT1-DS) is a rare and potentially treatable neurometabolic condition, caused by a reduced glucose transport into the brain and clinically characterized by an epileptic encephalopathy with movement disorders. A wide inter-
Externí odkaz:
https://doaj.org/article/787048f533584a0fa2e63de769992b65