Zobrazeno 1 - 10
of 837
pro vyhledávání: '"P. Sacchini"'
Autor:
Alessandro Barbato, Giulia Gori, Michele Sacchini, Francesca Pochiero, Sara Bargiacchi, Giovanna Traficante, Viviana Palazzo, Lucia Tiberi, Claudia Bianchini, Davide Mei, Elena Parrini, Tiziana Pisano, Elena Procopio, Renzo Guerrini, Angela Peron, Stefano Stagi
Publikováno v:
Endocrine Connections, Vol 13, Iss 10, Pp 1-9 (2024)
Context: Cytochrome C oxidase (COX) is the fourth component of the respiratory chain and is located within the internal membrane of mitochondria. COX deficiency causes an inherited mitochondrial disease with significant genetic and phenotypic heterog
Externí odkaz:
https://doaj.org/article/da9af13106284280995323cb873fffae
Autor:
Maria Carmela Pera, Giorgia Coratti, Marika Pane, Riccardo Masson, Valeria Ada Sansone, Adele D’Amico, Michela Catteruccia, Caterina Agosto, Antonio Varone, Claudio Bruno, Sonia Messina, Federica Ricci, Irene Bruno, Elena Procopio, Antonella Pini, Sabrina Siliquini, Riccardo Zanin, Emilio Albamonte, Angela Berardinelli, Chiara Mastella, Giovanni Baranello, Stefano Carlo Previtali, Antonio Trabacca, Chiara Bravetti, Delio Gagliardi, Massimiliano Filosto, Roberto de Sanctis, Richard Finkel, Eugenio Mercuri, Alice Gardani, Maria Antonella Costantino, Ilaria Bitetti, Matteo Tuana Franguel, Maria Sframeli, Andrea Magnolato, Myriam Rausa, Elena Pagliaccia, Mirea Negri, Cesare Del Monaco, Beatrice Berti, Daniela Leone, Concetta Palermo, Enrico Bertini, Antonella Longo, Claudia Dosi, Sara Carnicella, Simone Morando, Noemi Brolatti, Alessandra Vento, Ilaria Cavallina, Roberta Ferrante, Laura Bernasconi, Marco Piastra, Orazio Genovese, Nicola Forcina, Francesca Benedetti, Simona Damioli, Lavinia Fanelli, Giulia Stanca, Giulia Norcia, Matteo Sacchini, Chiara Ticci, Elena Briganti
Publikováno v:
EClinicalMedicine, Vol 78, Iss , Pp 102967- (2024)
Summary: Background: The advent of disease-modifying treatments (DMT) has changed natural history in 5q Spinal muscular atrophy (SMA). The aim of this study was to report survival and functional aspects in all the Italian type I children born since 2
Externí odkaz:
https://doaj.org/article/b5e62da87da8469dae511ce87cf7e38d
Autor:
Federica D'Onofrio, Francis Butler, Ivanka Krasteva, Maria Schirone, Luigi Iannetti, Marina Torresi, Chiara Di Pancrazio, Fabrizia Perletta, Marta Maggetti, Maurilia Marcacci, Massimo Ancora, Marco Di Domenico, Valeria Di Lollo, Cesare Cammà, Manuela Tittarelli, Flavio Sacchini, Francesco Pomilio, Nicola D'Alterio, Mirella Luciani
Publikováno v:
Heliyon, Vol 10, Iss 21, Pp e39832- (2024)
Listeria monocytogenes is a significant concern in the food industry due to its association with outbreaks of listeriosis, particularly affecting vulnerable populations. High-throughput technologies such as RNA sequencing (RNA-seq) and proteomics off
Externí odkaz:
https://doaj.org/article/9f3fd8b52c6d4b7f882e25150dff5668
Autor:
Agata Fiumara, Annamaria Sapuppo, Serena Gasperini, Viola Crescitelli, Michele Sacchini, Elena Procopio, Vincenza Gragnaniello, Alberto Burlina
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 40, Iss , Pp 101126- (2024)
Introduction: Infantile-onset Pompe disease (IOPD) is due to mutations in the GAA gene leading to profound deficiency of the lysosomal enzyme α-1,4-glucosidase. The disease is characterized by severe hypotonia, hypertrophic cardiomyopathy, macroglos
Externí odkaz:
https://doaj.org/article/4fd1c9f16efb4679995f2eedb5b44f11
Autor:
Simona Sacchini, Cristiano Bombardi
Publikováno v:
Frontiers in Neuroanatomy, Vol 18 (2024)
Externí odkaz:
https://doaj.org/article/898d2a17fa574940ad7a7976b45490e7
Autor:
Giovanni Cangelosi, Sara Morales Palomares, Marco Sguanci, Federico Biondini, Francesco Sacchini, Stefano Mancin, Fabio Petrelli
Publikováno v:
Diseases, Vol 12, Iss 10, p 253 (2024)
Background: The aging population drives a growing demand for care, particularly in Europe. It is estimated that approximately 1.5–2 million individuals have a chronic wound. Among these, pressure ulcers (PUs) are one of the most prevalent complicat
Externí odkaz:
https://doaj.org/article/50075e790f4f4b79b769924a5743789e
Publikováno v:
Frontiers in Neuroanatomy, Vol 18 (2024)
IntroductionThe amygdala is a noticeable bilateral structure in the medial temporal lobe and it is composed of at least 13 different nuclei and cortical areas, subdivided into the deep nuclei, the superficial nuclei, and the remaining nuclei which co
Externí odkaz:
https://doaj.org/article/7ee4ef230c5341a3a8d4dbe56c026058
Autor:
Emily C. Patterson, Gurdeep Matharu Lall, Rita Neumann, Barbara Ottolini, Chiara Batini, Federico Sacchini, Aiden P. Foster, Jon H. Wetton, Mark A. Jobling
Publikováno v:
BMC Genomics, Vol 24, Iss 1, Pp 1-12 (2023)
Abstract Background As a population genetic tool, mitochondrial DNA is commonly divided into the ~ 1-kb control region (CR), in which single nucleotide variant (SNV) diversity is relatively high, and the coding region, in which selective constraint i
Externí odkaz:
https://doaj.org/article/c7d3685ce1584fdf81c7529c7562562e
Autor:
Antonio Toscano, Olimpia Musumeci, Michele Sacchini, Sabrina Ravaglia, Gabriele Siciliano, Agata Fiumara, Elena Verrecchia, Melania Maione, Jennifer Gentile, Rita Fischetto, Grazia Crescimanno, Roberta Taurisano, Annalisa Sechi, Serena Gasperini, Vittoria Cianci, Lorenzo Maggi, Rossella Parini, Antonino Lupica, Maurizio Scarpa
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-11 (2023)
Abstract Background The Italian Medicines Agency (AIFA) demands precise information on benefit/risk profile of home-based enzyme replacement therapy (ERT) for the treatment of patients with Pompe disease and Mucopolysaccharidosis type I (MPS I). This
Externí odkaz:
https://doaj.org/article/0a5becd85d924dc1b04b318ba6f147bc
Autor:
Jean-Marie Graïc, Annamaria Grandis, Simona Sacchini, Claudio Tagliavia, Giulia Salamanca, Bruno Cozzi, Cristiano Bombardi
Publikováno v:
Frontiers in Neuroanatomy, Vol 18 (2024)
IntroductionThe entorhinal cortex has been shown to be involved in high-level cognitive functions in terrestrial mammals. It can be divided into two main areas: the lateral entorhinal area (LEA) and the medial entorhinal area (MEA). Understanding of
Externí odkaz:
https://doaj.org/article/728d439296dc45459201336de795f60a