Zobrazeno 1 - 10
of 312
pro vyhledávání: '"Lopergolo, A"'
Autor:
Pablo Iruzubieta, César Augusto Pinheiro Ferreira Alves, Aisha M. Al Shamsi, Gehad ElGhazali, Maha S. Zaki, Lorenzo Pinelli, Diego Lopergolo, Bernard P.H. Cho, Amy A. Jolly, Amna Al Futaisi, Fatema Al-Amrani, Jessica Galli, Elisa Fazzi, Katarina Vulin, Francisco Barajas-Olmos, Holger Hengel, Bayan Mohammed Aljamal, Vahideh Nasr, Farhad Assarzadegan, Michele Ragno, Luigi Trojano, Naomi Meave Ojeda, Arman Çakar, Silvia Bianchi, Francesca Pescini, Anna Poggesi, Amal Al Tenalji, Majid Aziz, Rahema Mohammad, Aziza Chedrawi, Nicola De Stefano, Giovanni Zifarelli, Ludger Schöls, Tobias B. Haack, Adriana Rebelo, Stephan Zuchner, Filiz Koc, Lyn R. Griffiths, Lorena Orozco, Karla García Helmes, Meisam Babaei, Peter Bauer, Won Chan Jeong, Ehsan Ghayoor Karimiani, Miriam Schmidts, Joseph G. Gleeson, Wendy K. Chung, Fowzan Sami Alkuraya, Bita Shalbafan, Hugh S. Markus, Henry Houlden, Reza Maroofian
Publikováno v:
EBioMedicine, Vol 107, Iss , Pp 105297- (2024)
Summary: Background: NOTCH3 encodes a transmembrane receptor critical for vascular smooth muscle cell function. NOTCH3 variants are the leading cause of hereditary cerebral small vessel disease (SVD). While monoallelic cysteine-involving missense var
Externí odkaz:
https://doaj.org/article/dcf457b6550e45488640bb16d06d46d7
Autor:
Lopergolo, Diego1,2 (AUTHOR) diego.lopergolo@unifi.it, Gallus, Gian Nicola1,2 (AUTHOR), Pieraccini, Giuseppe3 (AUTHOR), Boscaro, Francesca3 (AUTHOR), Berti, Gianna1,2 (AUTHOR), Serni, Giovanni1,2 (AUTHOR), Volpi, Nila1,2 (AUTHOR), Formichi, Patrizia1,2 (AUTHOR), Bianchi, Silvia1,2 (AUTHOR), Cassandrini, Denise4 (AUTHOR), Sorrentino, Vincenzo5,6 (AUTHOR), Rossi, Daniela5,6 (AUTHOR), Santorelli, Filippo Maria4 (AUTHOR), De Stefano, Nicola1,2 (AUTHOR), Malandrini, Alessandro1,2 (AUTHOR)
Publikováno v:
Cells (2073-4409). Sep2024, Vol. 13 Issue 17, p1504. 24p.
Autor:
Iruzubieta, Pablo, Alves, César Augusto Pinheiro Ferreira, Al Shamsi, Aisha M., ElGhazali, Gehad, Zaki, Maha S., Pinelli, Lorenzo, Lopergolo, Diego, Cho, Bernard P.H., Jolly, Amy A., Al Futaisi, Amna, Al-Amrani, Fatema, Galli, Jessica, Fazzi, Elisa, Vulin, Katarina, Barajas-Olmos, Francisco, Hengel, Holger, Aljamal, Bayan Mohammed, Nasr, Vahideh, Assarzadegan, Farhad, Ragno, Michele, Trojano, Luigi, Ojeda, Naomi Meave, Çakar, Arman, Bianchi, Silvia, Pescini, Francesca, Poggesi, Anna, Al Tenalji, Amal, Aziz, Majid, Mohammad, Rahema, Chedrawi, Aziza, De Stefano, Nicola, Zifarelli, Giovanni, Schöls, Ludger, Haack, Tobias B., Rebelo, Adriana, Zuchner, Stephan, Koc, Filiz, Griffiths, Lyn R., Orozco, Lorena, Helmes, Karla García, Babaei, Meisam, Bauer, Peter, Chan Jeong, Won, Karimiani, Ehsan Ghayoor, Schmidts, Miriam, Gleeson, Joseph G., Chung, Wendy K., Alkuraya, Fowzan Sami, Shalbafan, Bita, Markus, Hugh S., Houlden, Henry, Maroofian, Reza
Publikováno v:
In eBioMedicine September 2024 107
Autor:
Diego Lopergolo, Gian Nicola Gallus, Giuseppe Pieraccini, Francesca Boscaro, Gianna Berti, Giovanni Serni, Nila Volpi, Patrizia Formichi, Silvia Bianchi, Denise Cassandrini, Vincenzo Sorrentino, Daniela Rossi, Filippo Maria Santorelli, Nicola De Stefano, Alessandro Malandrini
Publikováno v:
Cells, Vol 13, Iss 17, p 1504 (2024)
CCDC78 was identified as a novel candidate gene for autosomal dominant centronuclear myopathy-4 (CNM4) approximately ten years ago. However, to date, only one family has been described, and the function of CCDC78 remains unclear. Here, we analyze for
Externí odkaz:
https://doaj.org/article/2fc80b87022e401688a1c19ab88409c3
Autor:
Fernanda Fortunato, Francesca Bianchi, Giulia Ricci, Francesca Torri, Francesca Gualandi, Marcella Neri, Marianna Farnè, Fabio Giannini, Alessandro Malandrini, Nila Volpi, Diego Lopergolo, Vincenzo Silani, Nicola Ticozzi, Federico Verde, Davide Pareyson, Silvia Fenu, Silvia Bonanno, Vincenzo Nigro, Cristina Peduto, Paola D’Ambrosio, Roberta Zeuli, Mariateresa Zanobio, Esther Picillo, Serenella Servidei, Guido Primiano, Cristina Sancricca, Monica Sciacco, Roberta Brusa, Massimiliano Filosto, Stefano Cotti Piccinelli, Elena Pegoraro, Tiziana Mongini, Luca Solero, Giulio Gadaleta, Chiara Brusa, Carlo Minetti, Claudio Bruno, Chiara Panicucci, Valeria A. Sansone, Christian Lunetta, Alice Zanolini, Antonio Toscano, Alessia Pugliese, Giulia Nicocia, Enrico Bertini, Michela Catteruccia, Daria Diodato, Antonio Atalaia, Teresinha Evangelista, Gabriele Siciliano, Alessandra Ferlini
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-7 (2023)
Abstract Background The development of e-health technologies for teleconsultation and exchange of knowledge is one of the core purposes of European Reference Networks (ERNs), including the ERN EURO-NMD for rare neuromuscular diseases. Within ERNs, th
Externí odkaz:
https://doaj.org/article/a63c0e0266e34366b30660e184a94201
Autor:
Diego Lopergolo, Francesca Rosini, Elena Pretegiani, Alessia Bargagli, Valeria Serchi, Alessandra Rufa
Publikováno v:
Frontiers in Integrative Neuroscience, Vol 17 (2024)
Autosomal recessive cerebellar ataxias (ARCAs) are a heterogeneous group of neurodegenerative disorders affecting primarily the cerebellum and/or its afferent tracts, often accompanied by damage of other neurological or extra-neurological systems. Du
Externí odkaz:
https://doaj.org/article/c2fbe52219b14762a3ad40779e0935cd
Autor:
Della Vecchia, Stefania, Lopergolo, Diego, Trovato, Rosanna, Pasquariello, Rosa, Ferrari, Anna Rita, Bartolini, Emanuele
Publikováno v:
In Seizure: European Journal of Epilepsy January 2023 104:32-37
Akademický článek
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Akademický článek
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Autor:
Sara Aguti, Gian Nicola Gallus, Silvia Bianchi, Simona Salvatore, Anna Rubegni, Gianna Berti, Patrizia Formichi, Nicola De Stefano, Alessandro Malandrini, Diego Lopergolo
Publikováno v:
Cells, Vol 13, Iss 4, p 329 (2024)
Objective: To identify novel biomarkers as an alternative diagnostic tool for limb girdle muscular dystrophy (LGMD). Background: LGMD encompasses a group of muscular dystrophies characterized by proximal muscles weakness, elevated CK levels and dystr
Externí odkaz:
https://doaj.org/article/2885ad79e6d1491eb0ea11c7ce31409b