Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Marianna Scutifero"'
Autor:
Alberto Palladino, Luigia Passamano, Marianna Scutifero, Salvatore Morra, Esther Picillo, Andrea Antonio Papa, Gerardo Nigro, Luisa Politano
Publikováno v:
Cardiogenetics, Vol 14, Iss 1, Pp 38-50 (2024)
Background. Pompe disease is a rare, severe, autosomal recessive genetic disorder caused by GAA gene mutations, which cause α-1,4-glucosidase enzyme deficiency. There are two forms of Pompe disease based on the age of onset, the infantile and the ad
Externí odkaz:
https://doaj.org/article/97197456b4004927ac93b6d7e9f09f54
Autor:
Emanuela Viggiano, Esther Picillo, Luigia Passamano, Maria Elena Onore, Giulio Piluso, Marianna Scutifero, Annalaura Torella, Vincenzo Nigro, Luisa Politano
Publikováno v:
Genes, Vol 14, Iss 1, p 214 (2023)
Dystrophinopathies are X-linked recessive muscle disorders caused by mutations in the dystrophin (DMD) gene that include deletions, duplications, and point mutations. Correct diagnosis is important for providing adequate patient care and family plann
Externí odkaz:
https://doaj.org/article/1687a8866c2c471a8ac9ff4dc241482b
Autor:
Chiara Orsini, Roberta Petillo, Paola D'Ambrosio, Manuela Ergoli, Esther Picillo, Marianna Scutifero, Luigia Passamano, Alessandro De Luca, Luisa Politano
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
Myotonia congenita is a genetic disease characterized by impaired muscle relaxation after forceful contraction (myotonia). It is caused by mutations in the CLCN1 gene, encoding the voltage-gated chloride channel of skeletal muscle, ClC-1. According t
Externí odkaz:
https://doaj.org/article/71a47cd98b004640882217ae4a7879f9
Autor:
Alberto Palladino, Andrea Antonio Papa, Roberta Petillo, Marianna Scutifero, Salvatore Morra, Luigia Passamano, Vincenzo Nigro, Luisa Politano
Publikováno v:
Genes, Vol 13, Iss 2, p 258 (2022)
Progressive cardiac conduction disease (PCCD) is a relatively common condition in young and elderly populations, related to rare mutations in several genes, including SCN5A, SCN1B, LMNA and GJA5, TRPM4. Familial cases have also been reported. We desc
Externí odkaz:
https://doaj.org/article/0921b28293c24695865becd4c8d43db6
Autor:
Raffaella Cascella, Claudia Strafella, Valerio Caputo, Rosaria Maria Galota, Valeria Errichiello, Marianna Scutifero, Roberta Petillo, Gian Luca Marella, Mauro Arcangeli, Luca Colantoni, Stefania Zampatti, Enzo Ricci, Giancarlo Deidda, Luisa Politano, Emiliano Giardina
Publikováno v:
Frontiers in Neurology, Vol 9 (2018)
Facioscapulohumeral muscular dystrophy (FSHD) is a neuromuscular disorder which is typically transmitted by an autosomal dominant pattern, although reduced penetrance and sporadic cases caused by de novo mutations, are often observed. FSHD may be cau
Externí odkaz:
https://doaj.org/article/763a97acd8ba4288a546e927b0d934b5
Autor:
Marika Pane, Giorgia Coratti, Claudia Brogna, Elena Stacy Mazzone, Anna Mayhew, Lavinia Fanelli, Sonia Messina, Adele D'Amico, Michela Catteruccia, Marianna Scutifero, Silvia Frosini, Valentina Lanzillotta, Giulia Colia, Filippo Cavallaro, Enrica Rolle, Roberto De Sanctis, Nicola Forcina, Roberta Petillo, Andrea Barp, Alice Gardani, Antonella Pini, Giulia Monaco, Maria Grazia D'Angelo, Riccardo Zanin, Gian Luca Vita, Claudio Bruno, Tiziana Mongini, Federica Ricci, Elena Pegoraro, Luca Bello, Angela Berardinelli, Roberta Battini, Valeria Sansone, Emilio Albamonte, Giovanni Baranello, Enrico Bertini, Luisa Politano, Maria Pia Sormani, Eugenio Mercuri
Publikováno v:
PLoS ONE, Vol 13, Iss 6, p e0199223 (2018)
The aim of the study was to establish 24 month changes in upper limb function using a revised version of the performance of upper limb test (PUL 2.0) in a large cohort of ambulant and non-ambulant boys with Duchenne muscular dystrophy and to identify
Externí odkaz:
https://doaj.org/article/cc1aff978b914be49b61d84545d3c9c7
Autor:
Amir, Dori, Michela, Guglieri, Marianna, Scutifero, Luigia, Passamano, Antonio, Trabacca, Luisa, Politano
Publikováno v:
Acta Myologica
Duchenne's muscular dystrophy (DMD) is an X-linked neuromuscular disorder caused by deletions (75%), duplications (15-20%) and point mutations (5-10%) in the dystrophin gene. Among the latter, stop-codon point mutations are rare. Female carriers of d
Autor:
Marianna, Scutifero, Michele, Lanza, Roberta, Petillo, Maddalena, De Bernardo, Luigia, Passamano, Nicola, Rosa, Luisa, Politano
Myotonic Dystrophy type 1 (DM1) is the most common muscular dystrophy in adults, affecting 1:8000 individuals. It is a multi-systemic disorder involving muscle, heart, endocrine and respiratory apparatus and eye. The eye symptoms can include ptosis,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::600503ef7f1c085044a3a0db79887d5a
https://hdl.handle.net/11591/484213
https://hdl.handle.net/11591/484213
Autor:
Paola D'Ambrosio, Marianna Scutifero, Esther Picillo, Roberta Petillo, Alessandro De Luca, Chiara Orsini, Luisa Politano, Manuela Ergoli, L. Passamano
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
Frontiers in Neurology
Frontiers in Neurology
Myotonia congenita is a genetic disease characterized by impaired muscle relaxation after forceful contraction (myotonia). It is caused by mutations in the CLCN1 gene, encoding the voltage-gated chloride channel of skeletal muscle, ClC-1. According t
Autor:
Claudio Bruno, Matteo La Rosa, Marika Pane, Angela Berardinelli, Tiziana Mongini, Arianna Palmieri, Gian Luca Vita, M.G. Distefano, Carmelo Rodolico, Sonia Marcato, Sonia Messina, Luisa Politano, Enrico Bertini, Maria Sframeli, Marianna Scutifero, Carlo Minetti, Giuseppe Vita, Stefania Mondello, Eugenio Mercuri, Maria Grazia D'Angelo, C. Barcellona, Giovanni Baranello, Elena Pegoraro, Lucia Morandi, Elena S. Mazzone, Adele D'Amico
Publikováno v:
Neuromuscular Disorders
Highlights • At baseline, the PedsQLTM inventories correlated with almost all the functional measures. • There was a significant decrease between baseline and 12 months on PedsQLTM GCS. • This decrement paralleled with the decrement in the func