Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Olimpia Musumeci"'
Autor:
Olimpia Musumeci, Alessia Pugliese, Rosaria Oteri, Sara Volta, Anna Ciranni, Maurizio Moggio, Carmelo Rodolico, Antonio Toscano
Publikováno v:
Neuromuscular Disorders. 32:582-589
Autor:
Sheela Sitaraman, Richard Roxburgh, Kristina Gutschmidt, Ela Stefanescu, Drago Bratkovic, Thomas Burrow, Kornblum Cornelia, Kristl Claeys, Miriam Freimer, Ozlem Goker-Alpan, Srilakshmi Kuchipudi, Alan Pestronk, Wolfgang Löscher, Francoise Bouhour, Maria Judit Molnar, Ans T. van der Ploeg, Halina Bartosik-Psujek, Mitchell Goldman, Robert D. Henderson, Stephanie Dearmey, Colin Quinn, Paula R. Clemens, Priya S. Kishnani, Jennifer B Avelar, Nicola Longo, Shahram Attarian, Robert Hopkin, Tomo Sawada, Blaž Koritnik, George Konstantinos Papadimas, Hideaki Shiraishi, Christopher Lindberg, Jin-Hong Shin, Ivaylo Tarnev, Tahseen Mozaffar, Heather Lau, Michel Tchan, Jozsef Janszky, Tobias Ruck, Sabrina Sacconi, Benedikt Schoser, Hashiguchi Akihiro, Patrick Deegan, Ernest Butler, Nuria Vidal-Fernandez, Antonio Toscano, Tarekegn Hiwot, Gee Kim, Emmanuelle Salort-Campana, Jeff Castelli, Pascal Laforet, Céline Tard, Crystal Eldridge, Aneal Khan, Stephan Wenninger, Simona Fecarotta, Jordi Díaz-Manera, Jorge Alonso-Pérez, Yin-Hsiu Chien, Mark Tarnopolsky, Olimpia Musumeci, Hiroshi Kobayashi, Helio Pedro, Jonathan Cauci, Agnes Sebok, Cynthia Bodkin, Hai Jiang, Julie Berthy, Vescei Laszlo, Derralynn Hughes, David Reyes-Leiva, Aleksandra Dominovic-Kovacevic, Mazen M. Dimachkie, Hernan Amartino, Hani Kushlaf, Barry J. Byrne, Giancarlo Parenti, Henning Andersen, Mark Roberts, Marie Wencel, Jaime Vengoechea
Publikováno v:
LANCET NEUROLOGY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
The Lancet Neurology, 20(12), 1027-1037. Lancet Publishing Group
PROPEL Study Group 2021, ' Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL) : an international, randomised, double-blind, parallel-group, phase 3 trial ', The Lancet Neurology, vol. 20, no. 12, pp. 1027-1037 . https://doi.org/10.1016/S1474-4422(21)00331-8
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
The Lancet Neurology, 20(12), 1027-1037. Lancet Publishing Group
PROPEL Study Group 2021, ' Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL) : an international, randomised, double-blind, parallel-group, phase 3 trial ', The Lancet Neurology, vol. 20, no. 12, pp. 1027-1037 . https://doi.org/10.1016/S1474-4422(21)00331-8
Summary Background Pompe disease is a rare disorder characterised by progressive loss of muscle and respiratory function due to acid α-glucosidase deficiency. Enzyme replacement therapy with recombinant human acid α-glucosidase, alglucosidase alfa,
Autor:
Vincenzo Rizzo, Paolo Girlanda, Olimpia Musumeci, Antonio Toscano, Carmen Terranova, Alessia Pugliese
Publikováno v:
Journal of the Neurological Sciences. 429:119360
Autor:
Grazia Maria Igea Falcone, Filippo M. Santorelli, Antonio Toscano, Graziana Tavilla, Olimpia Musumeci, Alessandra Tessa
Publikováno v:
Journal of the Neurological Sciences. 429:118261
Autor:
Zoltan Lukacs, Stephan Wenninger, Michele Gaeta, Olimpia Musumeci, Rudolf A. Kley, Dieter Gläser, Antonio Toscano, Marius Kuhn, Kristl G. Claeys, Marcus Deschauer, Benedikt Schoser, Andrea Thieme
Publikováno v:
Neuromuscular Disorders. 25:719-724
Homozygosity for the common Caucasian splice site mutation c.-32-13T>G in intron 1 of the GAA gene is rather rare in Pompe patients. We report on the clinical, biochemical, morphological, muscle imaging, and genetic findings of six adult Pompe patien
Autor:
Silvio Mazziotti, Olimpia Musumeci, Carmelo Rodolico, Demetrio Milardi, Paolo Ruggeri, Michele Gaeta, Fabio Minutoli, Emanuele Barca, Antonio Toscano
Publikováno v:
Molecular Genetics and Metabolism. 110:290-296
Late onset Pompe disease (LOPD) is a rare muscle disorder often characterized, along the disease course, by severe respiratory failure. We describe herein respiratory muscles and lung abnormalities in LOPD patients using MR imaging and CT examination
Autor:
Alejandro Lucía, Gabriele Siciliano, Nicol C. Voermans, Rosaline Quinlivan, P. Laforêt, Ramon Martí, J. Vissing, A. Toscano, Tomàs Pinós, Ximena Ortega, Alfredo Santalla, E. Kuhnle, Hacer Durmus, Olimpia Musumeci, Milick Martin, Renata S Scalco, B. San Milan, Sabrina Sacconi, Andrea Martinuzzi
Publikováno v:
Neuromuscular Disorders. 27:S203-S204
Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII)
Autor:
Claudio Bruno, Tiziana Mongini, L. Serlenga, Olimpia Musumeci, Denise Cassandrini, Carmelo Rodolico, M'hammed Aguennouz, Giuseppe Vita, Emanuele Barca, A. Amati, Antonio Toscano
Publikováno v:
Neuromuscular Disorders. 22:325-330
Muscle phosphofructokinase (PFKM) deficiency, a rare disorder of glycogen metabolism also known as glycogen storage disease type VII (GSDVII), is characterized by exercise intolerance, myalgias, cramps and episodic myoglobinuria associated with compe
Autor:
V. Emmanuele, Carmelo Rodolico, E. Conca, A. Toscano, Vincenzo Nigro, Annalaura Torella, Marco Savarese, Maurizio Moggio, Olimpia Musumeci
Publikováno v:
Neuromuscular Disorders. 27:S173
Autor:
Andrea Martinuzzi, Massimiliano Filosto, Claudio Bruno, Lorenzo Maggi, Gabriele Siciliano, Paola Tonin, Maurizio Moggio, Alice Donati, C. Angelini, Olimpia Musumeci, T. Mongini, S. Servidei, Bruno Bembi, A. Toscano
Publikováno v:
Neuromuscular Disorders. 27:S204