Zobrazeno 1 - 10
of 74
pro vyhledávání: '"Simona Zanotti"'
Case report: A novel ACTA1 variant in a patient with nemaline rods and increased glycogen deposition
Autor:
Daniela Piga, Martina Rimoldi, Francesca Magri, Simona Zanotti, Laura Napoli, Michela Ripolone, Serena Pagliarani, Patrizia Ciscato, Daniele Velardo, Adele D’Amico, Enrico Bertini, Giacomo Pietro Comi, Dario Ronchi, Stefania Corti
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
BackgroundCongenital myopathies are a group of heterogeneous inherited disorders, mainly characterized by early-onset hypotonia and muscle weakness. The spectrum of clinical phenotype can be highly variable, going from very mild to severe presentatio
Externí odkaz:
https://doaj.org/article/8fb71253fe8941deace9208bc912160a
Autor:
Daniela Piga, Simona Zanotti, Michela Ripolone, Laura Napoli, Patrizia Ciscato, Sara Gibertini, Lorenzo Maggi, Francesco Fortunato, Andrea Rigamonti, Dario Ronchi, Giacomo Pietro Comi, Stefania Corti, Monica Sciacco
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 12, p 6547 (2024)
Inclusion body myositis (IBM) is a slowly progressive disorder belonging to the idiopathic inflammatory myopathies, and it represents the most common adult-onset acquired myopathy. The main clinical features include proximal or distal muscular asymme
Externí odkaz:
https://doaj.org/article/942bb47c350348ebb96f0bd24a5a331f
Autor:
Martina Rimoldi, Gloria Romagnoli, Francesca Magri, Sara Antognozzi, Claudia Cinnante, Elena Saccani, Patrizia Ciscato, Simona Zanotti, Daniele Velardo, Stefania Corti, Giacomo Pietro Comi, Dario Ronchi
Publikováno v:
Frontiers in Neurology, Vol 14 (2024)
Limb-girdle muscular dystrophy autosomal recessive 8 (LGMDR8) is a rare clinical manifestation caused by the presence of biallelic variants in the TRIM32 gene. We present the clinical, molecular, histopathological, and muscle magnetic resonance findi
Externí odkaz:
https://doaj.org/article/d180e895436a40228da323ce031c98b6
Autor:
Martina Rimoldi, Francesca Magri, Sara Antognozzi, Michela Ripolone, Sabrina Salani, Daniela Piga, Letizia Bertolasi, Simona Zanotti, Patrizia Ciscato, Francesco Fortunato, Maurizio Moggio, Stefania Corti, Giacomo Pietro Comi, Dario Ronchi
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Isolated mitochondrial respiratory chain Complex IV (Cytochrome c Oxidase or COX) deficiency is the second most frequent isolated respiratory chain defect. Causative mutations are mainly identified in structural COX subunits or in proteins involved i
Externí odkaz:
https://doaj.org/article/91ab41cbfebc447bbe1cb3ed47358bfb
Autor:
Francesca Magri, Laura Napoli, Michela Ripolone, Patrizia Ciscato, Maurizio Moggio, Stefania Corti, Giacomo Pietro Comi, Monica Sciacco, Simona Zanotti
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 24, p 17402 (2023)
Limb girdle muscular dystrophies (LGMDs) are a group of genetically inherited neuromuscular diseases with a very variable clinical presentation and overlapping traits. Over the last few years there has been an increasing interest in the use of non-in
Externí odkaz:
https://doaj.org/article/93b8e47b40054a0a99998a5d75529563
Autor:
Francesca Magri, Sara Antognozzi, Michela Ripolone, Simona Zanotti, Laura Napoli, Patrizia Ciscato, Daniele Velardo, Giulietta Scuvera, Valeria Nicotra, Antonella Giacobbe, Donatella Milani, Francesco Fortunato, Manuela Garbellini, Monica Sciacco, Stefania Corti, Giacomo Pietro Comi, Dario Ronchi
Publikováno v:
Skeletal Muscle, Vol 12, Iss 1, Pp 1-9 (2022)
Abstract Background Choline kinase beta (CHKB) catalyzes the first step in the de novo biosynthesis of phosphatidyl choline and phosphatidylethanolamine via the Kennedy pathway. Derangement of this pathway might also influence the homeostasis of mito
Externí odkaz:
https://doaj.org/article/09db868ddfdf4d55970f761e53d08dd4
Autor:
Michela Ripolone, Daniele Velardo, Stefania Mondello, Simona Zanotti, Francesca Magri, Elisa Minuti, Sara Cazzaniga, Francesco Fortunato, Patrizia Ciscato, Francesca Tiberio, Monica Sciacco, Maurizio Moggio, Paolo Bettica, Giacomo P. Comi
Publikováno v:
Acta Neuropathologica Communications, Vol 10, Iss 1, Pp 1-12 (2022)
Abstract Becker muscular dystrophy (BMD) is a severe X-linked muscle disease. Age of onset, clinical variability, speed of progression and affected tissues display wide variability, making a clinical trial design for drug development very complex. Th
Externí odkaz:
https://doaj.org/article/ea2044a8a8514330866dadc3d9229bd9
Autor:
Qiang Gang, Conceição Bettencourt, Stefen Brady, Janice L. Holton, Estelle G. Healy, John McConville, Patrick J. Morrison, Michela Ripolone, Raffaella Violano, Monica Sciacco, Maurizio Moggio, Marina Mora, Renato Mantegazza, Simona Zanotti, Zhaoxia Wang, Yun Yuan, Wei‐wei Liu, David Beeson, Michael Hanna, Henry Houlden
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 9, Iss 1, Pp 4-15 (2022)
Abstract Objective A group of genes have been reported to be associated with myopathies with tubular aggregates (TAs). Many cases with TAs still lack of genetic clarification. This study aims to explore the genetic background of cases with TAs in ord
Externí odkaz:
https://doaj.org/article/f95f1a18963c49eebf12fb0df9632f8c
Autor:
Monica Fumagalli, Dario Ronchi, Maria Francesca Bedeschi, Arianna Manini, Gloria Cristofori, Fabio Mosca, Robertino Dilena, Monica Sciacco, Simona Zanotti, Daniela Piga, Gianluigi Ardissino, Fabio Triulzi, Stefania Corti, Giacomo P. Comi, Leonardo Salviati
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 32, Iss , Pp 100887- (2022)
Mitochondrial DNA (mtDNA) depletion syndromes are disorders characterized by infantile-onset, severe progression, and the drastic loss of mtDNA content in affected tissues. In a patient who showed severe hypotonia, proximal tubulopathy and sensorineu
Externí odkaz:
https://doaj.org/article/96c54ae9f7bc4b18b52893b3aafa3063
Autor:
Simona Zanotti, Francesca Magri, Francesca Poggetti, Michela Ripolone, Daniele Velardo, Francesco Fortunato, Patrizia Ciscato, Maurizio Moggio, Stefania Corti, Giacomo Pietro Comi, Monica Sciacco
Publikováno v:
European Journal of Histochemistry, Vol 66, Iss 3 (2022)
Sarcoglycanopathies are highly heterogeneous in terms of disease progression, muscular weakness, loss of ambulation and cardiac/respiratory involvement. Their clinical severity usually correlates with the residual protein amount, which makes protein
Externí odkaz:
https://doaj.org/article/c0ecdf06f8ce4cba9e60afd0f3eca236