Zobrazeno 1 - 10
of 144
pro vyhledávání: '"Nicoletta, Resta"'
Autor:
Valentina Trevisan, Eugenio De Corso, Germana Viscogliosi, Roberta Onesimo, Alessandro Cina, Marco Panfili, Lucrezia Perri, Cristiana Agazzi, Valentina Giorgio, Donato Rigante, Giovanni Vento, Patrizia Papacci, Filomena Valentina Paradiso, Sara Silvaroli, Lorenzo Nanni, Nicoletta Resta, Marco Castori, Jacopo Galli, Gaetano Paludetti, Giuseppe Zampino, Chiara Leoni
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-16 (2024)
Abstract Background Lymphatic malformations are vascular developmental anomalies varying from local superficial masses to diffuse infiltrating lesions, resulting in disfigurement. Patients’ outcomes range from spontaneous regression to severe seque
Externí odkaz:
https://doaj.org/article/87792ea812b04cb19a34faf827c6c476
Autor:
Giovanna Forte, Filomena Cariola, Antonia Lucia Buonadonna, Anna Filomena Guglielmi, Andrea Manghisi, Katia De Marco, Valentina Grossi, Candida Fasano, Martina Lepore Signorile, Paola Sanese, Rosanna Bagnulo, Nicoletta Resta, Vittoria Disciglio, Cristiano Simone
Publikováno v:
Genes and Diseases, Vol 11, Iss 2, Pp 1084- (2024)
Externí odkaz:
https://doaj.org/article/85689712f5434c3caf431daeca8fc522
Autor:
Cinzia Forleo, Maria Cristina Carella, Paolo Basile, Eugenio Carulli, Michele Luca Dadamo, Francesca Amati, Francesco Loizzi, Sandro Sorrentino, Ilaria Dentamaro, Marco Maria Dicorato, Stefano Ricci, Rosanna Bagnulo, Matteo Iacoviello, Vincenzo Ezio Santobuono, Carlo Caiati, Martino Pepe, Jean-Francois Desaphy, Marco Matteo Ciccone, Nicoletta Resta, Andrea Igoren Guaricci
Publikováno v:
Biomedicines, Vol 12, Iss 6, p 1293 (2024)
Arrhythmic risk stratification in patients with Lamin A/C gene (LMNA)-related cardiomyopathy influences clinical decisions. An implantable cardioverter defibrillator (ICD) should be considered in patients with an estimated 5-year risk of malignant ve
Externí odkaz:
https://doaj.org/article/b647d6fc10dd4129b0e3ea8b1c068f9d
Autor:
Giovanna Forte, Filomena Cariola, Antonia Lucia Buonadonna, Anna Filomena Guglielmi, Andrea Manghisi, Katia De Marco, Valentina Grossi, Candida Fasano, Martina Lepore Signorile, Paola Sanese, Rosanna Bagnulo, Nicoletta Resta, Vittoria Disciglio, Cristiano Simone
Publikováno v:
Genes and Diseases, Vol 10, Iss 4, Pp 1187-1189 (2023)
Externí odkaz:
https://doaj.org/article/98534bd75c294ac18e9690010718e4ac
Autor:
Mariangela Mastrapasqua, Roberta Rossi, Lucrezia De Cosmo, Annalisa Resta, Mariella Errede, Antonella Bizzoca, Stefania Zampatti, Nicoletta Resta, Emiliano Giardina, Maddalena Ruggieri, Daniela Virgintino, Tiziana Annese, Nicola Laforgia, Francesco Girolamo
Publikováno v:
European Journal of Translational Myology (2023)
The autophagy process recycles dysfunctional cellular components and protein aggregates by sequestering them in autophagosomes directed to lysosomes for enzymatic degradation. A basal level of autophagy is essential for skeletal muscle maintenance. I
Externí odkaz:
https://doaj.org/article/011e2bb5c32444f9a2e04e529fb2b10a
Autor:
Benedetta Beltrami, Jacopo Cerasani, Alessandra Consales, Roberta Villa, Nicoletta Resta, Daria Carmela Loconte, Simona Boito, Luca Caschera, Laura Bassi, Lorenzo Colombo, Maria Iascone, Maria Francesca Bedeschi
Publikováno v:
Clinical Case Reports, Vol 10, Iss 8, Pp n/a-n/a (2022)
Abstract We report on a child with prenatal findings of increased nuchal translucency, polydramnios, ascites, and overgrowth. At birth, she presented length >97° centile, minor facial anomalies, megalencephaly, and Wolff–Parkinson–White syndrome
Externí odkaz:
https://doaj.org/article/c009a14102b44eb98c8e6aa42a0541ae
Autor:
Karina Forde, Nicoletta Resta, Carlotta Ranieri, David Rea, Olga Kubassova, Mark Hinton, Katrina A. Andrews, Robert Semple, Alan D. Irvine, Veronika Dvorakova
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-7 (2021)
Abstract Background PIK3CA-related overgrowth spectrum (PROS) refers to a group of rare disorders, caused by somatic activating mutations in PIK3CA, resulting in abnormal PI3K-AKT-mTOR pathway signalling. Significant associated morbidity is frequentl
Externí odkaz:
https://doaj.org/article/cd73f846ef4b4cc79e3cc027617d1e68
Autor:
Maria Pia Leone, Pietro Palumbo, Orazio Palumbo, Ester Di Muro, Massimiliano Chetta, Nicola Laforgia, Nicoletta Resta, Alessandro Stella, Stefano Castellana, Tommaso Mazza, Marco Castori, Massimo Carella, Nenad Bukvic
Publikováno v:
Italian Journal of Pediatrics, Vol 46, Iss 1, Pp 1-9 (2020)
Abstract Background Schinzel-Giedion syndrome (SGS) is a multiple malformation syndrome mainly characterized by severe intellectual disability, distinctive facial features, and multiple congenital anomalies, including skeletal abnormalities, genitour
Externí odkaz:
https://doaj.org/article/1c022617883045e4a95bf51de2fc4354
Autor:
Simona Ruggieri, Luigi Viggiano, Tiziana Annese, Carmela Rubolino, Andrea Gerbino, Roberta De Zio, Patrizia Corsi, Roberto Tamma, Domenico Ribatti, Mariella Errede, Francesca Operto, Lucia Margari, Nicoletta Resta, Silvia Di Tommaso, Jessica Rosati, Maria Trojano, Beatrice Nico
Publikováno v:
Stem Cell Research & Therapy, Vol 10, Iss 1, Pp 1-8 (2019)
Abstract Cognitive deficit has been identified in one third of patients affected by Duchenne Muscular Dystrophy, primarily attributed to loss of the short Dp71 dystrophin, the major brain dystrophin isoform. In this study, we investigated for the fir
Externí odkaz:
https://doaj.org/article/f426796cc27a4a839e706002bcfa15bd
Publikováno v:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 190:520-529
Mosaic RASopathies are a heterogeneous group of diseases characterized by the presence at birth or early onset of congenital anomalies, cutaneous and vascular anomalies, segmental overgrowth, and increased cancer risk. They are caused by somatic path
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b466014437cd7fc442811fe2c670549c
https://doi.org/10.1002/ajmg.c.32021
https://doi.org/10.1002/ajmg.c.32021