Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Olimpia Musumeci"'
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:
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
Autor:
Olimpia Musumeci, Emanuele Barca, Costanza Lamperti, Serenella Servidei, Giacomo Pietro Comi, Maurizio Moggio, Tiziana Mongini, Gabriele Siciliano, Massimiliano Filosto, Elena Pegoraro, Guido Primiano, Dario Ronchi, Liliana Vercelli, Daniele Orsucci, Luca Bello, Massimo Zeviani, Michelangelo Mancuso, Antonio Toscano
Publikováno v:
Frontiers in Neurology, Vol 10 (2019)
Lipomas have often been associated with mtDNA mutations and were mainly observed in patients with mutation in mitochondrial tRNAlysine which is also the most frequent mutation associated with MERRF. Up to date, no systematic studies have been develop
Externí odkaz:
https://doaj.org/article/7931073aca1246778e3661921e59ae34
Autor:
Massimiliano Filosto, Stefano Cotti Piccinelli, Anna Pichiecchio, Olimpia Musumeci, Anna Galvagni, Filomena Caria, Serena Gallo Cassarino, Enrico Baldelli, Raimondo Vitale, Alessandro Padovani, Antonio Toscano
Publikováno v:
Frontiers in Neurology, Vol 10 (2019)
Glycogenosis VII (GSD VII) is a rare autosomal recessive glycogen storage disorder caused by mutations in the PFKM gene encoding the phosphofructokinase (PFK) enzyme. A classical form with exercise intolerance, contractures, and myoglobinuria, a seve
Externí odkaz:
https://doaj.org/article/5a47e193af94469481b17a6f96f686a1
Autor:
Angelica D'Amore, Alessandra Tessa, Carlo Casali, Maria Teresa Dotti, Alessandro Filla, Gabriella Silvestri, Antonella Antenora, Guja Astrea, Melissa Barghigiani, Roberta Battini, Carla Battisti, Irene Bruno, Cristina Cereda, Clemente Dato, Giuseppe Di Iorio, Vincenzo Donadio, Monica Felicori, Nicola Fini, Chiara Fiorillo, Salvatore Gallone, Federica Gemignani, Gian Luigi Gigli, Claudio Graziano, Renzo Guerrini, Fiorella Gurrieri, Ariana Kariminejad, Maria Lieto, Charles Marques LourenḈo, Alessandro Malandrini, Paola Mandich, Christian Marcotulli, Francesco Mari, Luca Massacesi, Maria A. B. Melone, Andrea Mignarri, Roberta Milone, Olimpia Musumeci, Elena Pegoraro, Alessia Perna, Antonio Petrucci, Antonella Pini, Francesca Pochiero, Maria Roser Pons, Ivana Ricca, Salvatore Rossi, Marco Seri, Franco Stanzial, Francesca Tinelli, Antonio Toscano, Mariarosaria Valente, Antonio Federico, Anna Rubegni, Filippo Maria Santorelli
Publikováno v:
Frontiers in Neurology, Vol 9 (2018)
Hereditary spastic paraplegia (HSP) refers to a group of genetically heterogeneous neurodegenerative motor neuron disorders characterized by progressive age-dependent loss of corticospinal motor tract function, lower limb spasticity, and weakness. Re
Externí odkaz:
https://doaj.org/article/88d19cc830784200a8ba57f6b7fe7905
Autor:
Daniela Parisi, Olimpia Musumeci, Stefania Mondello, Teresa Brizzi, Rosaria Oteri, Alba Migliorato, Annamaria Ciranni, Tiziana E. Mongini, Carmelo Rodolico, Giuseppe Vita, Antonio Toscano
Publikováno v:
Frontiers in Neurology, Vol 9 (2018)
Background: Primary aim was to investigate the diagnostic value of PAS-positive vacuolated lymphocytes on blood smear in Late Onset Pompe Disease (LOPD) patients and, secondly, to evaluate its potential utility in monitoring treatment effects.Methods
Externí odkaz:
https://doaj.org/article/7e32698156d247759f171d3ef348d1bd
Autor:
Giulia M. Camerino, Olimpia Musumeci, Elena Conte, Kejla Musaraj, Adriano Fonzino, Emanuele Barca, Marco Marino, Carmelo Rodolico, Domenico Tricarico, Claudia Camerino, Maria R. Carratù, Jean-François Desaphy, Annamaria De Luca, Antonio Toscano, Sabata Pierno
Publikováno v:
Frontiers in Pharmacology, Vol 8 (2017)
Statin therapy may induce skeletal muscle damage ranging from myalgia to severe rhabdomyolysis. Our previous preclinical studies showed that statin treatment in rats involves the reduction of skeletal muscle ClC-1 chloride channel expression and rela
Externí odkaz:
https://doaj.org/article/ee9a00b5639549888aa9bdc64f29ab75