Zobrazeno 1 - 10
of 114
pro vyhledávání: '"Maria PIANE"'
Autor:
Carmela Romano, Emanuele Morena, Simona Petrucci, Selene Diamant, Martina Marconi, Lorena Travaglini, Ginevra Zanni, Maria Piane, Marco Salvetti, Silvia Romano, Giovanni Ristori
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
Alexander disease (AxD) is a rare inherited autosomal dominant (AD) disease with different clinical phenotypes according to the age of onset. It is caused by mutations in the glial fibrillary acid protein (GFAP) gene, which causes GFAP accumulation i
Externí odkaz:
https://doaj.org/article/79fe45a22b9c44e2b5012d7b04778f29
Autor:
Raffaella Mistrulli, Caterina Micolonghi, Federico Follesa, Marco Fabiani, Erika Pagannone, Giulia D'Amati, Carla Giordano, Silvia Caroselli, Camilla Savio, Aldo Germani, Antonio Pizzuti, Vincenzo Visco, Simona Petrucci, Speranza Rubattu, Maria Piane, Camillo Autore
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101000- (2023)
ACM is a rare hereditary heart disease characterized by a progressive fibro-fatty replacement of the myocardium that can affect either the right or the left ventricle or both. It is mainly caused by variants in the desmosome genes with autosomal domi
Externí odkaz:
https://doaj.org/article/1570d952ccfc4e99adcd87a46f53fd2b
Autor:
Caterina Micolonghi, Marco Fabiani, Erika Pagannone, Camilla Savio, Marta Ricci, Silvia Caroselli, Vittoria Gambioli, Beatrice Musumeci, Aldo Germani, Giacomo Tini, Camillo Autore, Antonio Pizzuti, Vincenzo Visco, Speranza Rubattu, Simona Petrucci, Maria Piane
Publikováno v:
Current Issues in Molecular Biology, Vol 45, Iss 3, Pp 2422-2430 (2023)
Both genetic and environmental factors contribute to the development of dilated cardiomyopathy. Among the genes involved, TTN mutations, including truncated variants, explain 25% of DCM cases. We performed genetic counseling and analysis on a 57-year
Externí odkaz:
https://doaj.org/article/9a8c1944ddad4b528d4003b78aee96fe
Autor:
Maddalena Petraroli, Antonio Percesepe, Maria Piane, Francesca Ormitti, Eleonora Castellone, Margherita Gnocchi, Giulia Messina, Luca Bernardi, Viviana Dora Patianna, Susanna Maria Roberta Esposito, Maria Elisabeth Street
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
We report the case of a boy (aged 3 years and 7 months) with severe growth failure (length: -9.53 SDS; weight: -9.36 SDS), microcephaly, intellectual disability, distinctive craniofacial features, multiple skeletal anomalies, micropenis, cryptorchidi
Externí odkaz:
https://doaj.org/article/f24d572c0398421a9619fc85829b2b1f
Autor:
Francesco Cava, Caterina Micolonghi, Maria Beatrice Musumeci, Simona Petrucci, Camilla Savio, Marco Fabiani, Giacomo Tini, Aldo Germani, Fabio Libi, Carla Rossi, Vincenzo Visco, Antonio Pizzuti, Massimo Volpe, Camillo Autore, Speranza Rubattu, Maria Piane
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 10 (2023)
Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disease, characterized by the presence of unexplained left ventricular hypertrophy. This condition is often associated with electrocardiographic abnormalities including QTc prolongation occur
Externí odkaz:
https://doaj.org/article/6ed17b1f6031429e95495c699b8134e3
Autor:
Daniele Guadagnolo, Gioia Mastromoro, Enrica Marchionni, Aldo Germani, Fabio Libi, Soha Sadeghi, Camilla Savio, Simona Petrucci, Laura De Marchis, Maria Piane, Antonio Pizzuti
Publikováno v:
Biomedicines, Vol 11, Iss 7, p 2062 (2023)
Germline pathogenic variants (PVs) in the Ataxia Telangiectasia mutated (ATM) gene (MIM* 607585) increase the risk for breast, pancreatic, gastric, and prostatic cancer and, to a reduced extent, ovarian and colon cancer and melanoma, with moderate pe
Externí odkaz:
https://doaj.org/article/255bb07012884511b695345d641ba024
Autor:
Andrea Montori, Aldo Germani, Mario Ferri, Annalisa Milano, Teresa Valentina Ranalli, Maria Piane, Emanuela Pilozzi
Publikováno v:
Biomedicines, Vol 10, Iss 12, p 3247 (2022)
Background: Neoadjuvant chemo-radiotherapy (nCRT) represents the standard of care for locally advanced rectal cancer (LARC); however, there exists no biomarker that can predict the cancer’s response to treatment as less than 20% of patients experie
Externí odkaz:
https://doaj.org/article/dcfc9ca9bfc54350adeec8e1b4bd6534
Autor:
Salvatore Sciacchitano, Gian Paolo De Francesco, Maria Piane, Camilla Savio, Claudia De Vitis, Simona Petrucci, Valentina Salvati, Marina Goldoni, Marco Fabiani, Alvaro Mesoraca, Caterina Micolonghi, Barbara Torres, Annalisa Piccinetti, Roberto Pippi, Rita Mancini
Publikováno v:
Diagnostics, Vol 12, Iss 12, p 2997 (2022)
Pseudo-anodontia consists in the clinical, not radiographic, absence of teeth, due to failure in their eruption. It has been reported as part of an extremely rare syndrome, named GAPO syndrome. Pseudo-hypoparathyroidism type 1a (PHPT-1a) is a rare co
Externí odkaz:
https://doaj.org/article/15c58530b7d845daac9b955e8b259946
Autor:
Caterina Micolonghi, Maria Piane, Aldo Germani, Soha Sadeghi, Fabio Libi, Camilla Savio, Marco Fabiani, Rita Mancini, Danilo Ranieri, Antonio Pizzuti, Vito Domenico Corleto, Pasquale Parisi, Vincenzo Visco, Giovanni Di Nardo, Simona Petrucci
Publikováno v:
Diagnostics, Vol 12, Iss 11, p 2684 (2022)
Juvenile polyposis syndrome (JPS) is an autosomal dominant disorder characterized by hyperplastic polyps in the upper and lower gastrointestinal (GI) tract with a high risk of developing GI cancers. We have described a three-generation Italian family
Externí odkaz:
https://doaj.org/article/8a86928455a94d798062d85bc1dfc421
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Parkinson disease (PD) is a complex neurodegenerative disorder, usually with multifactorial etiology. It is characterized by prominent movement disorders and non-motor symptoms. Movement disorders commonly include bradykinesia, rigidity, and resting
Externí odkaz:
https://doaj.org/article/f16ede12f3734c008c19d28300eddc54