Zobrazeno 1 - 10
of 1 249
pro vyhledávání: '"MANDICH P"'
Autor:
Claudia Strafella, Domenica Megalizzi, Giulia Trastulli, Emma Proietti Piorgo, Luca Colantoni, Giorgio Tasca, Mauro Monforte, Stefania Zampatti, Guido Primiano, Cristina Sancricca, Sara Bortolani, Eleonora Torchia, Beatrice Ravera, Francesca Torri, Giulio Gadaleta, Barbara Risi, Filomena Caria, Francesca Gerardi, Elena Carraro, Valeria Gioiosa, Matteo Garibaldi, Laura Tufano, Erica Frezza, Roberto Massa, Carlo Caltagirone, Elena Maria Pennisi, Antonio Petrucci, Marika Pane, Annalia Frongia, Francesca Gragnani, Marianna Scutifero, Paola Mandich, Marina Grandis, Maria Antonietta Maioli, Carlo Casali, Elisabetta Manfroi, Luisa Politano, Luigia Passamano, Roberta Petillo, Carmelo Rodolico, Alessia Pugliese, Stefano Carlo Previtali, Valeria Sansone, Liliana Vercelli, Tiziana Enrica Mongini, Giulia Ricci, Gabriele Siciliano, Massimiliano Filosto, Enzo Ricci, Raffaella Cascella, Emiliano Giardina, FSHD Italian Clinical Group
Publikováno v:
Clinical Epigenetics, Vol 16, Iss 1, Pp 1-13 (2024)
Abstract Background Facioscapulohumeral dystrophy (FSHD) is a myopathy characterized by the loss of repressive epigenetic features affecting the D4Z4 locus (4q35). The assessment of DNA methylation at two regions (DUX4-PAS and DR1) of D4Z4 locus prov
Externí odkaz:
https://doaj.org/article/0d15d9c849414d05b47cb23663857b6e
Autor:
Sara Massucco, Paola Fossa, Chiara Fiorillo, Elena Faedo, Chiara Gemelli, Rita Barresi, Michela Ripolone, Serena Patrone, Andrea Gaudio, Paola Mandich, Fabio Gotta, Serena Baratto, Monica Traverso, Livia Pisciotta, Federico Zaottini, Mattia Camera, Elena Scarsi, Marina Grandis
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Recessively inherited limb-girdle muscular dystrophy type 1, caused by mutations in the calpain 3 gene, is the most common limb-girdle muscular dystrophy worldwide. Recently, cases of autosomal dominant calpainopathy have been described. A man was re
Externí odkaz:
https://doaj.org/article/49be178eb8364e9aad2b067534cfd3e5
Autor:
Marta Casula, Daniela Marchetti, Lucia Trevisan, Laura Pezzoli, Matteo Bellini, Serena Patrone, Antonio Zingarelli, Fabio Gotta, Maria Iascone, Paola Mandich
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 11 (2024)
Spontaneous coronary artery dissection (SCAD) is a relevant non-atherosclerotic cause of acute coronary syndrome with a complex genetic architecture. Recent discoveries have highlighted the potential role of miRNAs and protein-coding genes involved i
Externí odkaz:
https://doaj.org/article/c2fed8fc37084d1e90c4a1d7c8c7c8fe
Autor:
Nanda K. Siva, Christopher Bauer, Colson Glover, Alexander Stolin, Sonia Chandi, Helen Melnick, Gary Marano, Benjamin Parker, MaryBeth Mandich, James W. Lewis, Jinyi Qi, Si Gao, Kaylee Nott, Stan Majewski, Julie A. Brefczynski-Lewis
Publikováno v:
Communications Medicine, Vol 4, Iss 1, Pp 1-12 (2024)
Abstract Background Mobile upright PET devices have the potential to enable previously impossible neuroimaging studies. Currently available options are imagers with deep brain coverage that severely limit head/body movements or imagers with upright/m
Externí odkaz:
https://doaj.org/article/3dcafaab4c5d434cb74e2195dc0ab6b1
Autor:
Keshavarzian, Pouyan, Ramu, Karthick, Tang, Duy, Weill, Carlos, Gramuglia, Francesco, Tan, Shyue Seng, Tng, Michelle, Lim, Louis, Quek, Elgin, Mandich, Denis, Stipčević, Mario, Charbon, Edoardo
Quantum random number generators are a burgeoning technology used for a variety of applications, including modern security and encryption systems. Typical methods exploit an entropy source combined with an extraction or bit generation circuit in orde
Externí odkaz:
http://arxiv.org/abs/2209.04868
Autor:
Golénia, Sylvain, Mandich, Marc-Adrien
This document contains additional numerical and graphical evidence to support some of the conjectures mentioned in \cite{GM3}. We give more evidence for $\kappa=3,4$ in dimension 2. As mentioned in that article we still don't quite understand the set
Externí odkaz:
http://arxiv.org/abs/2201.09547
Autor:
Golénia, Sylvain, Mandich, Marc-Adrien
We continue the investigation of the existence of absolutely continuous (a.c.) spectrum for the discrete Schr\"odinger operator $\Delta+V$ on $\ell^2(\Z^d)$, in dimensions $d\geq 2$, for potentials $V$ satisfying the long range condition $n_i(V-\tau_
Externí odkaz:
http://arxiv.org/abs/2201.09545
Autor:
Mandich, Marc-Adrien
The existence of absolutely continuous (a.c.) spectrum for the discrete Molchanov-Vainberg Schr\"odinger operator $D+V$ on $\ell^2(\mathbb{Z}^d)$, in dimensions $d\geq 2$, is further investigated for potentials $V$ satisfying the long range condition
Externí odkaz:
http://arxiv.org/abs/2201.00410
Publikováno v:
Quaderni di Sociologia, Vol 92, Pp 47-63 (2023)
The recent Covid-19 pandemic has irrupted into youth’s lives and their relations to the city abruptly. Young people, in particular, make use of public space to forge relationships with peers for them significant: in this sense the city is a key sou
Externí odkaz:
https://doaj.org/article/f286a96d5dee4e1b89f4b3569db49c95
Autor:
Pasquale Esposito, Carmela Caputo, Monica Repetto, Alberto Somaschini, Bellone Pietro, Paolo Colomba, Carmela Zizzo, Angelica Parodi, Valentina Zanetti, Marco Canepa, Virginia Eustachi, Francesca Sanguineri, Paola Mandich, Francesca Viazzi
Publikováno v:
BMC Nephrology, Vol 24, Iss 1, Pp 1-11 (2023)
Abstract Fabry disease (FD) is an X-linked inherited lysosomal disorder due to a deficiency of the enzyme alpha-galactosidase A (α-gla) due to mutations in the GLA gene. These mutations result in plasma and lysosome accumulation of glycosphingolipid
Externí odkaz:
https://doaj.org/article/106611c317ec406da2fdbe28885a95df