Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Stefano Gambardella"'
Autor:
Rosa, Campopiano, Cinzia, Femiano, Maria Antonietta, Chiaravalloti, Rosangela, Ferese, Diego, Centonze, Fabio, Buttari, Stefania, Zampatti, Mirco, Fanelli, Stefano, Amatori, Carmelo, D'Alessio, Emiliano, Giardina, Francesco, Fornai, Francesca, Biagioni, Marianna, Storto, Stefano, Gambardella
Publikováno v:
Genes
X-linked adrenoleukodystrophy (X-ALD, OMIM #300100) is the most common peroxisomal disorder clinically characterized by two main phenotypes: adrenomyeloneuropathy (AMN) and the cerebral demyelinating form of X-ALD (cerebral ALD). The disease is cause
Autor:
Marianna Storto, Rosa Campopiano, Emiliano Giardina, Mirco Fanelli, Francesca Biagioni, Diego Centonze, Claudio Colonnese, Stefano Gambardella, Fabio Buttari, Vania Broccoli, Francesco Fornai, Edoardo Fraviga, Stefania Zampatti, Rosangela Ferese
Publikováno v:
BMC Neurology, Vol 20, Iss 1, Pp 1-6 (2020)
BMC Neurology
BMC Neurology
Background Leukodystrophies are familial heterogeneous disorders primarily affecting the white matter, which are defined as hypomyelinating or demyelinating based on disease severity as assessed at MRI. Recently, a group of clinically overlapping hyp
Autor:
Francesca De Vito, Andrea Paolillo, Antonio Uccelli, Mario Stampanoni Bassi, Roberto Furlan, Luana Gilio, Fabio Buttari, Stefano Gambardella, Ilaria Simonelli, Annamaria Finardi, Giuseppe Matarese, Diego Centonze, Marianna Storto, Rosangela Ferese, Girolama Alessandra Marfia, Marco Salvetti, Andrea Visconti
Publikováno v:
Genes, Vol 11, Iss 1152, p 1152 (2020)
Genes
Volume 11
Issue 10
Genes
Volume 11
Issue 10
In multiple sclerosis (MS), activated T and B lymphocytes and microglial cells release various proinflammatory cytokines, promoting neuroinflammation and negatively affecting the course of the disease. The immune response homeostasis is crucially reg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f7a3fc200ac8d5705c32b933a6cafd0
http://hdl.handle.net/11573/1477836
http://hdl.handle.net/11573/1477836
Autor:
Gioia, Mastromoro, Stefano, Gambardella, Enrica, Marchionni, Rosa, Campopiano, Alice, Traversa, Carlo, Di Bonaventura, Antonio, Pizzuti
Publikováno v:
Neuro-degenerative diseases. 19(2)
APP gene mutations causing Alzheimer disease (AD) segregate in an autosomal dominant pattern. We report on a 40-year-old woman with a severe cognitive decline starting at 36 years, while her affected relatives presented symptoms onset in the 6th deca
Autor:
Michela A. Denti, Margherita Grasso, Rosa Campopiano, Paola Piscopo, Giuseppe Bruno, Marina Gasparini, Giuseppina Talarico, Emanuela D'Acunto, Maria Puopolo, Stefano Gambardella, Anna Elisa Castellano, Alessio Crestini, Annamaria Confaloni
Given the heterogeneous nature of frontotemporal dementia (FTD), sensitive biomarkers are greatly needed for the accurate diagnosis of this neurodegenerative disorder. Circulating miRNAs have been reported as promising biomarkers for neurodegenerativ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3cba7ef9aa2476bcfb2745cfd6ffd900
https://hdl.handle.net/11576/2665348
https://hdl.handle.net/11576/2665348
Autor:
Maria Cristina Digilio, Hossein Hozhabri, Marco Tartaglia, Stefano Gambardella, Monica Bonetti, Tommaso Mazza, Anna Sarkozy, Valentina Guida, Federica Consoli, Jeroen den Hertog, Paolo Versacci, Katia Margiotti, Francesca Piceci Sparascio, Bruno Dallapiccola, Alessandro De Luca, Bruno Marino, Francesca Romana Lepri, Rosangela Ferese, Giulio Calcagni
Publikováno v:
Human Mutation, 39(10), 1428. Wiley-Liss Inc.
Human Mutation, 39(10), 1428-1441. Wiley-Liss Inc.
Human Mutation, 39(10), 1428-1441. Wiley-Liss Inc.
Atrioventricular septal defect (AVSD) may occur as part of a complex disorder (e.g., Down syndrome, heterotaxy), or as isolate cardiac defect. Multiple lines of evidence support a role of calcineurin/NFAT signaling in AVSD, and mutations in CRELD1, a
Autor:
Simona Scala, Rosangela Ferese, Veronica Albano, Rosa Campopiano, Francesco Fornai, Giuseppe Barrano, Anna Maria Pia Griguoli, Stefania Zampatti, Emiliano Giardina, Giuseppe Novelli, Stefano Gambardella
X-linked hydrocephalus (XLH) is a genetic disorder leading to a syndrome characterized by mental retardation, bilateral adducted thumbs, and spasticity of upper and lower limbs. In most cases, X-linked mutation leads to a defective activity of the ne
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b37a3c40b2aced44be35ffc5eed4c43
https://hdl.handle.net/11576/2664948
https://hdl.handle.net/11576/2664948
Autor:
Adriano Angioni, Stefano Gambardella, Vincenzina Lucidi, Giuseppe Novelli, Maria Rosaria D'Apice, Paola De Angelis, Luigi Dall'Oglio, F. Alghisi, Lidia Monti
Publikováno v:
Pancreas. 40:517-521
To assess specific etiologies of acute recurrent pancreatitis at a single Italian pediatric cystic fibrosis (CF) center.We studied, retrospectively, 78 young patients (39 female subjects; mean age at diagnosis, 8.8 ± 5.1 years) affected by acute rec
Autor:
Monica D’Adamo, Michela Biancolella, Ruggiero Mango, Katia Margiotti, Paolo Sbraccia, Giuseppe Novelli, Francesca Amati, Maria Rosaria D'Apice, Stefano Gambardella, Marc Lewis, Annamaria Nardone
Publikováno v:
Gene Expression. 12:39-47
Mandibuloacral dysplasia (MAD) is a rare autosomal recessive disorder caused basically by a missense mutation within the LMNA gene, which encodes for lamin A/C. We have used gene expression profiling to characterize the specificity of molecular chang
Autor:
Federica Sangiuolo, Fabrizio Rinaldi, Stefano Gambardella, Giuseppe Novelli, Maria Rosaria D'Apice, Chiara Conte
Publikováno v:
BMC Medical Genetics
BMC Medical Genetics, Vol 12, Iss 1, p 125 (2011)
BMC Medical Genetics, Vol 12, Iss 1, p 125 (2011)
Background Treacher Collins syndrome (TCS) is one of the most severe autosomal dominant congenital disorders of craniofacial development and shows variable phenotypic expression. TCS is extremely rare, occurring with an incidence of 1 in 50.000 live