Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Olimpia Musumeci"'
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:
Stefano C. Previtali, Michela Ripolone, Corrado Angelini, Paola Tonin, Antonio Toscano, Dario Ronchi, Lucia Morandi, Olimpia Musumeci, Massimiliano Filosto, Gigliola Fagiolari, Tiziana Mongini, Giacomo P. Comi, Simona Saredi, A. C. Nascimbeni, Raffaella Violano, Andreina Bordoni, Francesco Fortunato, Marco Sandri, M. Sciacco, Valeria Lucchini, Irene Colombo, Stefania Mondello, Maurizio Moggio, Marina Mora
Aims Pompe disease is an autosomal recessive lysosomal storage disorder resulting from deficiency of acid α-glucosidase (GAA) enzyme. Histopathological hallmarks in skeletal muscle tissue are fiber vacuolization and autophagy. Since 2006, ERT is the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d0302e959724cbb43da5ca700e43eaa
http://hdl.handle.net/11562/983750
http://hdl.handle.net/11562/983750
Autor:
Marina Mora, Claudio Bruno, Gabriele Siciliano, Carlo Minetti, Francesca Magri, Mauro Monforte, Giacomo P. Comi, Giorgio Tasca, Claudio Semplicini, Roberta Brusa, Corrado Angelini, S. Gandossini, Maurizio Moggio, Marco Savarese, Elena Pegoraro, Tiziana Mongini, Stefania Corti, Enzo Ricci, Vincenzo Nigro, Giulia Ricci, Alessandra Govoni, Giuseppina Di Fruscio, Chiara Fiorillo, Monica Sciacco, Nereo Bresolin, Roberto Del Bo, Antonio Toscano, Maria Grazia D'Angelo, Giuliano Tomelleri, Isabella Moroni, Lucia Morandi, Olimpia Musumeci, Dario Ronchi
Introduction Limb girdle muscular dystrophies (LGMDs) are characterized by high molecular heterogeneity, clinical overlap, and a paucity of specific biomarkers. However, their molecular definition is fundamental for prognostic and therapeutic purpose
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d518defd40f6137069fdf4f19752fff
http://hdl.handle.net/11591/369008
http://hdl.handle.net/11591/369008
Autor:
M'hammed Aguennouz, Anna Ciranni, Sonia Messina, Francesca Polito, Gian Luca Vita, Roberto Arrigo, Olimpia Musumeci, Rosa Maria Di Giorgio, Giuseppe Vita, Rosaria Oteri, Carmelo Rodolico
Publikováno v:
PLoS ONE, Vol 13, Iss 10, p e0205514 (2018)
PLoS ONE
PLoS ONE
Hippo signaling pathway is considered a key regulator of tissue homeostasis, cell proliferation, apoptosis and it is involved in cancer development. In skeletal muscle, YAP, a downstream target of the Hippo pathway, is an important player in myoblast
Autor:
Simona Portaro, Olimpia Musumeci, Antonio Toscano, Carmelo Rodolico, S. Sinicropi, Mariella Valenzise
Sodium channel myotonias are inherited muscle diseases linked to mutations in the voltage-gated sodium channel. These diseases may also affect newborns with variable symptoms. More recently, severe neonatal episodic laryngospasm (SNEL) has been descr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::153ae5c68c01d7c79493076f4f52caf7
http://hdl.handle.net/11570/3096868
http://hdl.handle.net/11570/3096868
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
Autor:
Emanuele Barca, P. De Filippi, Alba Migliorato, Carmelo Rodolico, Olimpia Musumeci, A. Ciranni, Federica Montagnese, Antonio Toscano, Stefania Mondello, Cesare Danesino
Publikováno v:
Journal of neurology. 262(4)
Pompe disease is a rare metabolic disorder, due to mutations in the gene encoding acid alpha-glucosidase (GAA), of which infantile and late-onset forms may occur. Aim of the work was to analyze clinical and laboratory data of a cohort of late-onset P
Autor:
Richard Godfrey, A. Ciranni, R. Kirk, Stefen Brady, S. Romeo, Shamima Rahman, Olimpia Musumeci, Carmelo Rodolico, Ros Quinlivan, E Murphy, Elizabeth Allen, Federica Montagnese, Antonio Toscano, M'hammed Aguennouz
Publikováno v:
Journal of neurology. 261(12)
Muscle β-enolase deficiency is a very rare inherited metabolic myopathy caused by an enzymatic defect of distal glycolysis. So far, the condition has been described in only one patient with mutations in ENO3 in a compound heterozygous state who pres
Autor:
Mʼhammed Aguennouz, Paolo Girlanda, Olimpia Musumeci, Giuseppe Vita, Maria C. Monici, Antonio Toscano
Publikováno v:
Scopus-Elsevier
DNA fragmentation, the hallmark of apoptosis, has been recently investigated with contradictory results in several skeletal muscle disorders. Using in situ labeling of nuclear DNA fragmentation, we have tested the possibility that apoptosis might occ
Autor:
Joanna Stewart, Alan F. Wright, Mark R. Baker, P. Duffey, Patrick F. Chinnery, Birgit Czermin, Pascal Reynier, Patrizia Amati-Bonneau, Grainne S. Gorman, Dominique Bonneau, Douglass M. Turnbull, James Miller, Gavin Hudson, Costanza Lamperti, Baljean Dhillon, Michaela Auer-Grumbach, Margaret Jackson, Patrick Yu-Wai-Man, Michael P. Clarke, Charles Marques Lourenço, Marcela Votruba, Maria Lucia Valentino, Wilson Marques, Laurence A. Bindoff, Massimo Zeviani, Antonio Toscano, Chantal M. E. Tallaksen, Rita Horvath, Guy Lenaers, Robert McFarland, Roger G. Whittaker, Philip G. Griffiths, Leonardo Caporali, Olimpia Musumeci, Valerio Carelli, Robert W. Taylor
Publikováno v:
Yu-Wai-Man, P, Griffiths, P G, Gorman, G S, Lourenco, C M, Wright, A, Auer-Grumbach, M, Toscano, A, Musumeci, O, Valentino, M L, Caporali, L, Lamperti, C, Tallaksen, C M, Duffey, P, Miller, J, Whittaker, R G, Baker, M R, Jackson, M J, Clarke, M P, Dhillon, B, Czermin, B, Stewart, J D, Hudson, G, Reynier, P, Bonneau, D, Marques, W, Lenaers, G, McFarland, R, Taylor, R W, Turnbull, D M, Votruba, M, Zeviani, M, Carelli, V, Bindoff, L A, Horvath, R, Amati-Bonneau, P & Chinnery, P F 2010, ' Multi-system neurological disease is common in patients with OPA1 mutations ', Brain, vol. 133, pp. 771-786 . https://doi.org/10.1093/brain/awq007
Brain
Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2010, 133 (3), pp.771-786. ⟨10.1093/brain/awq007⟩
Brain
Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2010, 133 (3), pp.771-786. ⟨10.1093/brain/awq007⟩
International audience; Additional neurological features have recently been described in seven families transmitting pathogenic mutations in OPA1, the most common cause of autosomal dominant optic atrophy. However, the frequency of these syndromal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c4e2c40b79916278ce0c7faf4a43e2b
http://hdl.handle.net/11577/3354278
http://hdl.handle.net/11577/3354278