Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Paolo Broda"'
Autor:
Marco Veneruso, Chiara Fiorillo, Paolo Broda, Serena Baratto, Monica Traverso, Alice Donati, Salvatore Savasta, Raffaele Falsaperla, Maria Margherita Mancardi, Marina Pedemonte, Chiara Panicucci, Gianluca Piatelli, Mattia Pacetti, Andrea Moscatelli, Luca Antonio Ramenghi, Lino Nobili, Carlo Minetti, Claudio Bruno
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
The role of muscle biopsy in the diagnostic workup of floppy infants is controversial. Muscle sampling is invasive, and often, results are not specific. The rapid expansion of genetic approach has made the muscle histopathology analysis less crucial.
Externí odkaz:
https://doaj.org/article/7bc4546c313146c59871dc5aa057c0dc
Autor:
Michele Iacomino, Roberto Doliana, Maria Marchese, Alessandra Capuano, Pasquale Striano, Paola Spessotto, Giulia Bosisio, Rosa Iodice, Fiore Manganelli, Paola Lanteri, Alessandro Orsini, Simona Baldassari, Serena Baratto, Floriana Fruscione, Valeria Prada, Paolo Broda, Alessandra Tessa, Giulia Bertocci, Angelo Schenone, Alfonso Colombatti, Carlo Minetti, Filippo Maria Santorelli, Federico Zara, Chiara Fiorillo
Publikováno v:
Neurobiology of Disease, Vol 137, Iss , Pp 104757- (2020)
Elastin microfibril interface-located proteins (EMILINs) are extracellular matrix glycoproteins implicated in elastogenesis and cell proliferation.Recently, a missense mutation in the EMILIN1 gene has been associated with autosomal dominant connectiv
Externí odkaz:
https://doaj.org/article/9a36e1be846742a28a19c9ad3e99f747
Autor:
Marina Pedemonte, Claudio Bruno, Raffaele Falsaperla, Chiara Fiorillo, Mattia Pacetti, Andrea Moscatelli, Alice Donati, Marco Veneruso, Paolo Broda, Maria Margherita Mancardi, Luca A. Ramenghi, Carlo Minetti, Chiara Panicucci, Salvatore Savasta, Gianluca Piatelli, Lino Nobili, M. Traverso, Serena Baratto
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Frontiers in Neurology
Frontiers in Neurology
The role of muscle biopsy in the diagnostic workup of floppy infants is controversial. Muscle sampling is invasive, and often, results are not specific. The rapid expansion of genetic approach has made the muscle histopathology analysis less crucial.
Autor:
Pasquale Striano, Paolo Broda, Giulia Bosisio, Filippo M. Santorelli, Carlo Minetti, Chiara Fiorillo, Serena Baratto, Paola Spessotto, Simona Baldassari, Alessandra Tessa, Valeria Prada, Federico Zara, Maria Marchese, Roberto Doliana, Alfonso Colombatti, Fiore Manganelli, Rosa Iodice, Floriana Fruscione, Alessandra Capuano, Michele Iacomino, Giulia Bertocci, Paola Lanteri, Alessandro Orsini, Angelo Schenone
Publikováno v:
Neurobiology of Disease, Vol 137, Iss, Pp 104757-(2020)
Elastin microfibril interface-located proteins (EMILINs) are extracellular matrix glycoproteins implicated in elastogenesis and cell proliferation. Recently, a missense mutation in the EMILIN1 gene has been associated with autosomal dominant connecti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8824e6365ddd6a30360c6cb032c802f0
http://hdl.handle.net/11588/803123
http://hdl.handle.net/11588/803123
Autor:
M. Ferretti, Paolo Broda, Carlo Minetti, Claudio Bruno, Federico Zara, Stefania Assereto, Serena Baratto, Marina Pedemonte, Maria Cristina Diana, Francesca Madia, Michele Iacomino, Chiara Fiorillo, Elisabetta Gazzerro, Monica Traverso
We present a 13-year-old patient with persistent increase of serum Creatine Kinase (CK) and myalgia after exertion. Skeletal muscle biopsy showed marked reduction of dystrophin expression leading to genetic analysis of DMD gene by MLPA, which detecte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1283d73a6b4bce4ab4bca9d5f489b81
http://hdl.handle.net/11567/926457
http://hdl.handle.net/11567/926457
Autor:
Catia Romano, Vincenzo Nigro, Pasquale Striano, Federico Zara, Michele Iacomino, Giulia Pozzolini, Paolo Broda, Annalaura Torella, Chiara Fiorillo, Mariasavina Severino, Carlo Minetti, Raffaele Falsaperla
In the last few years, whole exome sequencing (WES) allowed the identification of PRUNE mutations in patients featuring a complex neurological phenotype characterized by severe neurodevelopmental delay, microcephaly, epilepsy, optic atrophy, and brai
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64561a761df48a7102029ccf21008240
http://hdl.handle.net/11591/387985
http://hdl.handle.net/11591/387985
Autor:
Paolo Broda, Francesca Madia, Claudio Bruno, Federico Zara, Domenico Bartolomeo, Riccardo Papa, Chiara Fiorillo, Monica Traverso, Federica Trucco, Marina Pedemonte, Carlo Minetti
Background Female carriers of Duchenne muscular dystrophy (DMD), although usually asymptomatic, develop muscle weakness up to 17% of the time, and a third present cardiac abnormalities or cognitive impairment. Clinical features of DMD carriers during
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eab0300fc7066d1902a0bd499737cf95
http://hdl.handle.net/11567/823249
http://hdl.handle.net/11567/823249
Autor:
Antonino Lupica, Marco Tartaglia, Emanuele Bellacchio, Gigliola Fagiolari, Chiara Fiorillo, E. Bertini, Margherita Verardo, Giorgio Tasca, Carmelo Rodolico, Maurizio Moggio, Alessandra D'Amico, Fabiana Fattori, Claudio Bruno, Paolo Broda
Publikováno v:
Neuromuscular Disorders. 27:S186
Autor:
A. Panella, Michael P. Lisanti, Claudio Bruno, Federico Zara, Federica Sotgia, Emiliana Masetti, Paolo Broda, F. Dagna Bricarelli, Carlo Minetti, G. Cordone, I. Carbone, M. Bado
Publikováno v:
Neurology. 54:1373-1376
Mutations in the caveolin-3 (CAV3) gene are associated with autosomal dominant limb-girdle muscular dystrophy (LGMD1C). The authors report a novel sporadic mutation in the CAV3 gene in two unrelated children with persistent elevated levels of serum c
Autor:
Agnieszka K. Witkiewicz, Adam Ertel, Anthony Howell, Richard G. Pestell, Aristotelis Tsirigos, Ubaldo E. Martinez-Outschoorn, Neal Flomenberg, Ruth Birbe, Michael P. Lisanti, Stephanos Pavlides, Carlo Minetti, Diana Whitaker-Menezes, Federica Sotgia, Paolo Broda
We have recently proposed a new mechanism for explaining energy transfer in cancer metabolism. In this scenario, cancer cells behave as metabolic parasites, by extracting nutrients from normal host cells, such as fibroblasts, via the secretion of hyd
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee3188444f5fc5c603ad599c25c361d8
http://hdl.handle.net/11567/317519
http://hdl.handle.net/11567/317519