Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Olimpia Musumeci"'
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:
Angelo Iannielli, Simone Bido, Lucrezia Folladori, Alice Segnali, Cinzia Cancellieri, Alessandra Maresca, Luca Massimino, Alicia Rubio, Giuseppe Morabito, Leonardo Caporali, Francesca Tagliavini, Olimpia Musumeci, Giuliana Gregato, Erwan Bezard, Valerio Carelli, Valeria Tiranti, Vania Broccoli
Publikováno v:
Cell Reports, Vol 22, Iss 8, Pp 2066-2079 (2018)
Summary: Dysfunctions in mitochondrial dynamics and metabolism are common pathological processes associated with Parkinson’s disease (PD). It was recently shown that an inherited form of PD and dementia is caused by mutations in the OPA1 gene, whic
Externí odkaz:
https://doaj.org/article/e74ec4bf3763430d970714f46ab17f1c
Autor:
Amelia Morrone, Jan J.A. van den Dorpel, Ans T. van der Ploeg, Andrea Dardis, Stijn L.M. in 't Groen, Hannerieke J. M. P. van den Hout, W.W.M. Pim Pijnappel, Bruno Bembi, Benedikt Schoser, Elisabetta Pasquini, Nadine A. M. E. van der Beek, Antonio Toscano, Atze J. Bergsma, Olimpia Musumeci, Albina Tummolo
Publikováno v:
EBioMedicine, 43, 553-561. Elsevier
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
Autor:
Carlo Casali, Lucia Ulgheri, Alessandro Filla, Maria Teresa Bassi, Antonio Di Muzio, Filippo M. Santorelli, Cristina Cereda, Olimpia Musumeci, Maria Teresa Dotti, Vittorio Riso, Ilaria Orologio, Antonio Orlacchio, Clemente Dato, Laura Orsi, Gabriella Silvestri, Cristina Stefan, Silvia Romano, Andrea Mignarri, Andrea Martinuzzi, Giovanni Rizzo, Chiara Criscuolo, Antonio Petrucci, Luca Diamanti, Francesco Nicita, Salvatore Rossi, Giovanni Vazza, Marco Seri, Mariarosa A. B. Melone, Rocco Liguori, Rossana Moroni, Giulia Straccia, Maria Grazia D'Angelo, Enrico Bertini, Massimo Plumari, Roberto Massa, Beatrice Dal Fabbro, Elena Pegoraro, Marina Scarlato
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eecb480ef9eaa0523531992aa29238ad
http://hdl.handle.net/11577/3435531
http://hdl.handle.net/11577/3435531
Autor:
Grainne S. Gorman, Chiara Pizzamiglio, Wladimir, Robert D S Pitceathly, Patrick F. Chinnery, Rhys H. Thomas, Pedro Machado, Michael G. Hanna, Ernestina Santos, Lucía Galàn, Stefen Brady, Guido Primiano, Mária Judit Molnár, Robert McFarland, Mirian C. H. Janssen, Serenella Servidei, Hallgeir Jonvik, Rita Horvath, Victoria Nesbitt, Michelangelo Mancuso, Albert Z Lim, Alejandro Horga, Olimpia Musumeci
Publikováno v:
Journal of the Neurological Sciences
Autor:
Giuseppe Paleologo, Antonio Toscano, Alba Migliorato, Olimpia Musumeci, Maria Cucinotta, Carmelo Rodolico, Marco Marino
Danon disease, an X-linked multisystemic disorder, is due to deficiency of Lysosome-Associated Membrane Protein 2 (LAMP2). It is usually characterized by hypertrophic cardiomyopathy, mental retardation and skeletal myopathy, sometimes also with atypi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d42f6e2c6f4041397194fc15077badb7
http://hdl.handle.net/11570/3096810
http://hdl.handle.net/11570/3096810