PUGLIESE, Alessia
PUGLIESE, Alessia
Dipartimento di Medicina Clinica e Sperimentale
A new phenotype of muscle glycogen synthase deficiency (GSD0B) characterized by an adult onset myopathy without cardiomyopathy
2022-01-01 Musumeci, Olimpia; Pugliese, Alessia; Oteri, Rosaria; Volta, Sara; Ciranni, Anna; Moggio, Maurizio; Rodolico, Carmelo; Toscano, Antonio
A very late onset AChR and MuSK double positive myasthenia gravis: a case description and literature review
2023-01-01 Pugliese, A; Nicocia, G; Messina, S; Toscano, A; Rodolico, C
Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks
2023-01-01 Kishnani, Priya S.; Diaz-Manera, Jordi; Toscano, Antonio; Clemens, Paula R.; Ladha, Shafeeq; Berger, Kenneth I.; Kushlaf, Hani; Straub, Volker; Carvalho, Gerson; Mozaffar, Tahseen; Roberts, Mark; Attarian, Shahram; Chien, Yin-Hsiu; Choi, Young-Chul; Day, John W.; Erdem-Ozdamar, Sevim; Illarioshkin, Sergey; Goker-Alpan, Ozlem; Kostera-Pruszczyk, Anna; van der Ploeg, Ans T.; An Haack, Kristina; Huynh-Ba, Olivier; Tammireddy, Swathi; Thibault, Nathan; Zhou, Tianyue; Dimachkie, Mazen M.; Schoser, Benedikt; Behin, Anthony; Boentert, Matthias; Carvalho, Gerson; Chahin, Nizar; Charrow, Joel; Deegan, Patrick; Durmus Tekce, Hacer; Duval, Fanny; Genge, Angela; Gutmann, Ludwig; Henderson, Robert D.; Hennermann, Julia B.; Hiwot, Tarekegn; Hughes, Derralynn; Karaa, Amel; Karam, Chafic; Kautzky-Willer, Alexandra; Komaki, Hirofumi; Laforet, Pascal; Longo, Nicola; Malinova, Vera; Maré, Ricardo; Maxit, Clarisa; Mengel, Eugen; Moggio, Maurizio Gualtiero; Molnár, Mária Judit; Mongini, Tiziana Enrica; Nadaj-Pakleza, Aleksandra; Nascimento Osorio, Andres; Noury, Jean-Baptiste; Oliveira, Acary Souza Bulle; Parman, Yesim; Pena, Loren; Remiche, Gauthier; Sciacco, Monica; Shieh, Perry B. Shieh; Smith, Cheryl; Stulnig, Thomas; Taithe, Frederic; Tard, Céline; Tarnopolsky, Mark; Vorgerd, Matthias; Whitley, Chester; Young, Peter; Alonso-Pérez, Jorge; Altemus, Patricia; Aubé-Nathier, Anne-Catherine; Avelar, Jennifer B. ; Bailey, Carrie; Bekircan-Kurt, Can Ebru; Billy, Jenny; Boschi, Silvia; Brown, Kathryn E.; Carrera Garcia, Laura; Chase, Lauren; Cirne, Hamilton; Danjoux, Loïc; Davion, Jean-Baptiste; Dearmey, Stephanie; Fedotova, Ekaterina; Gandolfo, Eve; Grosz, Zoltan; Guellec, Dewi; Guettsches, Anne-Katrin; Guglieri, Michela; Hatcher, Erin; Helms, Sina; Hufgard-Leitner, Miriam; Klyushnikov, Sergey A.; Langton, Jacqui; Linková, Lenka; Mavroudakis, Nicolas; Mazurová, Stella; Mori, Madoka; Müller-Miny, Louisa; Musumeci, Olimpia; Nance, Christopher S.; Natera-de Benito, Daniel; Neel, Robert; Niizawa, Gabriela A.; Noll, Lauren; Ortega, Erik; Pasnoor, Mamatha; Pautot, Vivien; Potulska-Chromik, Anna; Pugliese, Alessia; Questienne, Claire; Ramos Lopes, Margarida; Reyes-Leiva, David; Riedl, Michaela; Rugiero, Marcelo Francisco; Salort-Campana, Emmanuelle; Sgobbi Souza, Paulo Victor; Sole, Guilhem; Solera, Luca; Souto Lopes, Suzara; Specht, Sabine; Statland, Jeffrey; Swenson, Andrea; Tan, Chong Yew; Tizon, Sónia; van der Beek, N. A. M. E.; van Kooten, Harmke A.; Wencel, Marie; Wenninger, Stephan; Zagnoli, Fabien; Null, Null
Endocrine myopathies: Clinical and histopathological features of the major forms
2020-01-01 Rodolico, C.; Bonanno, C.; Pugliese, A.; Nicocia, G.; Benvenga, S.; Toscano, A.
Methotrexate as a steroid-sparing agent in myasthenia gravis: A preliminary retrospective study
2021-01-01 Rodolico, C.; Bonanno, C.; Brizzi, T.; Nicocia, G.; Trimarchi, G.; Lupica, A.; Pugliese, A.; Musumeci, O.; Toscano, A.
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network
2021-01-01 Hirano, M.; Carelli, V.; De Giorgio, R.; Pironi, L.; Accarino, A.; Cenacchi, G.; D'Alessandro, R.; Filosto, M.; Marti, R.; Nonino, F.; Pinna, A. D.; Baldin, E.; Bax, B. E.; Bolletta, A.; Bolletta, R.; Boschetti, E.; Cescon, M.; D'Angelo, R.; Dotti, M. T.; Giordano, C.; Gramegna, L. L.; Levene, M.; Lodi, R.; Mandel, H.; Morelli, M. C.; Musumeci, O.; Pugliese, A.; Scarpelli, M.; Siniscalchi, A.; Spinazzola, A.; Tal, G.; Torres-Torronteras, J.; Vignatelli, L.; Zaidman, I.; Zoller, H.; Rinaldi, R.; Zeviani, M.
Molecular Genetics Overview of Primary Mitochondrial Myopathies
2022-01-01 Arena, Ignazio Giuseppe; Pugliese, Alessia; Volta, Sara; Toscano, Antonio; Musumeci, Olimpia
Presynaptic Congenital Myasthenic Syndromes: Understanding Clinical Phenotypes through In vivo Models
2023-01-01 Pugliese, Alessia; Holland, Stephen H; Rodolico, Carmelo; Lochmüller, Hanns; Spendiff, Sally
Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial
2021-01-01 Diaz-Manera, J.; Kishnani, P. S.; Kushlaf, H.; Ladha, S.; Mozaffar, T.; Straub, V.; Toscano, A.; van der Ploeg, A. T.; Berger, K. I.; Clemens, P. R.; Chien, Y. -H.; Day, J. W.; Illarioshkin, S.; Roberts, M.; Attarian, S.; Borges, J. L.; Bouhour, F.; Choi, Y. C.; Erdem-Ozdamar, S.; Goker-Alpan, O.; Kostera-Pruszczyk, A.; Haack, K. A.; Hug, C.; Huynh-Ba, O.; Johnson, J.; Thibault, N.; Zhou, T.; Dimachkie, M. M.; Schoser, B.; Behin, A.; Boentert, M.; Carvalho, G.; Chahin, N.; Charrow, J.; Deegan, P.; Durmus Tekce, H.; Duval, F.; Genge, A.; Gutmann, L.; Henderson, R. D.; Hennermann, J. B.; Hiwot, T.; Hughes, D.; Karaa, A.; Karam, C.; Kautzky-Willer, A.; Komaki, H.; Laforet, P.; Longo, N.; Malinova, V.; Mare, R.; Maxit, C.; Mengel, E.; Moggio, M. G.; Molnar, M. J.; Mongini, T. E.; Nadaj-Pakleza, A.; Nascimento Osorio, A.; Noury, J. -B.; Oliveira, A. S. B.; Parman, Y.; Pena, L.; Remiche, G.; Sciacco, M.; Shieh, P. B.; Smith, C.; Stulnig, T.; Taithe, F.; Tard, C.; Tarnopolsky, M.; Vorgerd, M.; Whitley, C.; Young, P.; Alonso-Perez, J.; Altemus, P.; Aube-Nathier, A. -C.; Avelar, J. B.; Bailey, C.; Bekircan-Kurt, C. E.; Billy, J.; Boschi, S.; Brown, K. E.; Carrera Garcia, L.; Chase, L.; Cirne, H.; Danjoux, L.; Davion, J. -B.; DeArmey, S.; Fedotova, E.; Gandolfo, E.; Grosz, Z.; Guellec, D.; Guettsches, A. -K.; Guglieri, M.; Hatcher, E.; Helms, S.; Hufgard-Leitner, M.; Klyushnikov, S. A.; Langton, J.; Linkova, L.; Mavroudakis, N.; Mazurova, S.; Mori, M.; Muller-Miny, L.; Musumeci, O.; Nance, C. S.; Natera-de Benito, D.; Neel, R.; Niizawa, G. A.; Noll, L.; Ortega, E.; Pasnoor, M.; Pautot, V.; Potulska-Chromik, A.; Pugliese, A.; Questienne, C.; Ramos Lopes, M.; Reyes-Leiva, D.; Riedl, M.; Rugiero, M. F.; Salort-Campana, E.; Sgobbi Souza, P. V.; Sole, G.; Solera, L.; Souto Lopes, S.; Specht, S.; Statland, J.; Swenson, A.; Tan, C. Y.; Tizon, S.; van der Beek, N. A. M. E.; van Kooten, H. A.; Wencel, M.; Wenninger, S.; Zagnoli, F.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A new phenotype of muscle glycogen synthase deficiency (GSD0B) characterized by an adult onset myopathy without cardiomyopathy | 1-gen-2022 | Musumeci, Olimpia; Pugliese, Alessia; Oteri, Rosaria; Volta, Sara; Ciranni, Anna; Moggio, Maurizio; Rodolico, Carmelo; Toscano, Antonio | |
| A very late onset AChR and MuSK double positive myasthenia gravis: a case description and literature review | 1-gen-2023 | Pugliese, A; Nicocia, G; Messina, S; Toscano, A; Rodolico, C | |
| Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks | 1-gen-2023 | Kishnani, Priya S.; Diaz-Manera, Jordi; Toscano, Antonio; Clemens, Paula R.; Ladha, Shafeeq; Berger, Kenneth I.; Kushlaf, Hani; Straub, Volker; Carvalho, Gerson; Mozaffar, Tahseen; Roberts, Mark; Attarian, Shahram; Chien, Yin-Hsiu; Choi, Young-Chul; Day, John W.; Erdem-Ozdamar, Sevim; Illarioshkin, Sergey; Goker-Alpan, Ozlem; Kostera-Pruszczyk, Anna; van der Ploeg, Ans T.; An Haack, Kristina; Huynh-Ba, Olivier; Tammireddy, Swathi; Thibault, Nathan; Zhou, Tianyue; Dimachkie, Mazen M.; Schoser, Benedikt; Behin, Anthony; Boentert, Matthias; Carvalho, Gerson; Chahin, Nizar; Charrow, Joel; Deegan, Patrick; Durmus Tekce, Hacer; Duval, Fanny; Genge, Angela; Gutmann, Ludwig; Henderson, Robert D.; Hennermann, Julia B.; Hiwot, Tarekegn; Hughes, Derralynn; Karaa, Amel; Karam, Chafic; Kautzky-Willer, Alexandra; Komaki, Hirofumi; Laforet, Pascal; Longo, Nicola; Malinova, Vera; Maré, Ricardo; Maxit, Clarisa; Mengel, Eugen; Moggio, Maurizio Gualtiero; Molnár, Mária Judit; Mongini, Tiziana Enrica; Nadaj-Pakleza, Aleksandra; Nascimento Osorio, Andres; Noury, Jean-Baptiste; Oliveira, Acary Souza Bulle; Parman, Yesim; Pena, Loren; Remiche, Gauthier; Sciacco, Monica; Shieh, Perry B. Shieh; Smith, Cheryl; Stulnig, Thomas; Taithe, Frederic; Tard, Céline; Tarnopolsky, Mark; Vorgerd, Matthias; Whitley, Chester; Young, Peter; Alonso-Pérez, Jorge; Altemus, Patricia; Aubé-Nathier, Anne-Catherine; Avelar, Jennifer B. ; Bailey, Carrie; Bekircan-Kurt, Can Ebru; Billy, Jenny; Boschi, Silvia; Brown, Kathryn E.; Carrera Garcia, Laura; Chase, Lauren; Cirne, Hamilton; Danjoux, Loïc; Davion, Jean-Baptiste; Dearmey, Stephanie; Fedotova, Ekaterina; Gandolfo, Eve; Grosz, Zoltan; Guellec, Dewi; Guettsches, Anne-Katrin; Guglieri, Michela; Hatcher, Erin; Helms, Sina; Hufgard-Leitner, Miriam; Klyushnikov, Sergey A.; Langton, Jacqui; Linková, Lenka; Mavroudakis, Nicolas; Mazurová, Stella; Mori, Madoka; Müller-Miny, Louisa; Musumeci, Olimpia; Nance, Christopher S.; Natera-de Benito, Daniel; Neel, Robert; Niizawa, Gabriela A.; Noll, Lauren; Ortega, Erik; Pasnoor, Mamatha; Pautot, Vivien; Potulska-Chromik, Anna; Pugliese, Alessia; Questienne, Claire; Ramos Lopes, Margarida; Reyes-Leiva, David; Riedl, Michaela; Rugiero, Marcelo Francisco; Salort-Campana, Emmanuelle; Sgobbi Souza, Paulo Victor; Sole, Guilhem; Solera, Luca; Souto Lopes, Suzara; Specht, Sabine; Statland, Jeffrey; Swenson, Andrea; Tan, Chong Yew; Tizon, Sónia; van der Beek, N. A. M. E.; van Kooten, Harmke A.; Wencel, Marie; Wenninger, Stephan; Zagnoli, Fabien; Null, Null | |
| Endocrine myopathies: Clinical and histopathological features of the major forms | 1-gen-2020 | Rodolico, C.; Bonanno, C.; Pugliese, A.; Nicocia, G.; Benvenga, S.; Toscano, A. | |
| Methotrexate as a steroid-sparing agent in myasthenia gravis: A preliminary retrospective study | 1-gen-2021 | Rodolico, C.; Bonanno, C.; Brizzi, T.; Nicocia, G.; Trimarchi, G.; Lupica, A.; Pugliese, A.; Musumeci, O.; Toscano, A. | |
| Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network | 1-gen-2021 | Hirano, M.; Carelli, V.; De Giorgio, R.; Pironi, L.; Accarino, A.; Cenacchi, G.; D'Alessandro, R.; Filosto, M.; Marti, R.; Nonino, F.; Pinna, A. D.; Baldin, E.; Bax, B. E.; Bolletta, A.; Bolletta, R.; Boschetti, E.; Cescon, M.; D'Angelo, R.; Dotti, M. T.; Giordano, C.; Gramegna, L. L.; Levene, M.; Lodi, R.; Mandel, H.; Morelli, M. C.; Musumeci, O.; Pugliese, A.; Scarpelli, M.; Siniscalchi, A.; Spinazzola, A.; Tal, G.; Torres-Torronteras, J.; Vignatelli, L.; Zaidman, I.; Zoller, H.; Rinaldi, R.; Zeviani, M. | |
| Molecular Genetics Overview of Primary Mitochondrial Myopathies | 1-gen-2022 | Arena, Ignazio Giuseppe; Pugliese, Alessia; Volta, Sara; Toscano, Antonio; Musumeci, Olimpia | |
| Presynaptic Congenital Myasthenic Syndromes: Understanding Clinical Phenotypes through In vivo Models | 1-gen-2023 | Pugliese, Alessia; Holland, Stephen H; Rodolico, Carmelo; Lochmüller, Hanns; Spendiff, Sally | |
| Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial | 1-gen-2021 | Diaz-Manera, J.; Kishnani, P. S.; Kushlaf, H.; Ladha, S.; Mozaffar, T.; Straub, V.; Toscano, A.; van der Ploeg, A. T.; Berger, K. I.; Clemens, P. R.; Chien, Y. -H.; Day, J. W.; Illarioshkin, S.; Roberts, M.; Attarian, S.; Borges, J. L.; Bouhour, F.; Choi, Y. C.; Erdem-Ozdamar, S.; Goker-Alpan, O.; Kostera-Pruszczyk, A.; Haack, K. A.; Hug, C.; Huynh-Ba, O.; Johnson, J.; Thibault, N.; Zhou, T.; Dimachkie, M. M.; Schoser, B.; Behin, A.; Boentert, M.; Carvalho, G.; Chahin, N.; Charrow, J.; Deegan, P.; Durmus Tekce, H.; Duval, F.; Genge, A.; Gutmann, L.; Henderson, R. D.; Hennermann, J. B.; Hiwot, T.; Hughes, D.; Karaa, A.; Karam, C.; Kautzky-Willer, A.; Komaki, H.; Laforet, P.; Longo, N.; Malinova, V.; Mare, R.; Maxit, C.; Mengel, E.; Moggio, M. G.; Molnar, M. J.; Mongini, T. E.; Nadaj-Pakleza, A.; Nascimento Osorio, A.; Noury, J. -B.; Oliveira, A. S. B.; Parman, Y.; Pena, L.; Remiche, G.; Sciacco, M.; Shieh, P. B.; Smith, C.; Stulnig, T.; Taithe, F.; Tard, C.; Tarnopolsky, M.; Vorgerd, M.; Whitley, C.; Young, P.; Alonso-Perez, J.; Altemus, P.; Aube-Nathier, A. -C.; Avelar, J. B.; Bailey, C.; Bekircan-Kurt, C. E.; Billy, J.; Boschi, S.; Brown, K. E.; Carrera Garcia, L.; Chase, L.; Cirne, H.; Danjoux, L.; Davion, J. -B.; DeArmey, S.; Fedotova, E.; Gandolfo, E.; Grosz, Z.; Guellec, D.; Guettsches, A. -K.; Guglieri, M.; Hatcher, E.; Helms, S.; Hufgard-Leitner, M.; Klyushnikov, S. A.; Langton, J.; Linkova, L.; Mavroudakis, N.; Mazurova, S.; Mori, M.; Muller-Miny, L.; Musumeci, O.; Nance, C. S.; Natera-de Benito, D.; Neel, R.; Niizawa, G. A.; Noll, L.; Ortega, E.; Pasnoor, M.; Pautot, V.; Potulska-Chromik, A.; Pugliese, A.; Questienne, C.; Ramos Lopes, M.; Reyes-Leiva, D.; Riedl, M.; Rugiero, M. F.; Salort-Campana, E.; Sgobbi Souza, P. V.; Sole, G.; Solera, L.; Souto Lopes, S.; Specht, S.; Statland, J.; Swenson, A.; Tan, C. Y.; Tizon, S.; van der Beek, N. A. M. E.; van Kooten, H. A.; Wencel, M.; Wenninger, S.; Zagnoli, F. |