Zobrazeno 1 - 10
of 151
pro vyhledávání: '"Lucia Valentino"'
Autor:
Valentina Cesarano, Lucia Valentino
Publikováno v:
Formazione & Insegnamento, Vol 20, Iss 1 Suppl. (2022)
Lo scopo del seguente contributo è esplorare le potenzialità inclusive della Progettazione Universale per l’Apprendimento (UDL) e le sue implicazioni didattiche, riconoscendo l’ importanza di tale approccio nella formazione degli insegnanti di
Externí odkaz:
https://doaj.org/article/6f7e91fa5ab047a1885d1567bb124c47
Autor:
Natale Marzullo, Lucia Valentino
Publikováno v:
Formazione & Insegnamento, Vol 20, Iss 1 Suppl. (2022)
This work is intended to highlight the importance of sport and motor activity in general, and the impact they have in people’s lives. A toned and trained body is the only antidote to the predominant presence of technology and computer systems in pe
Externí odkaz:
https://doaj.org/article/f5b2acfdd0e24d278ca3674376097834
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation
Autor:
Marwan Nashabat, Nasrinsadat Nabavizadeh, Hilal Pırıl Saraçoğlu, Burak Sarıbaş, Şahin Avcı, Esra Börklü, Emmanuel Beillard, Elanur Yılmaz, Seyide Ecesu Uygur, Cavit Kerem Kayhan, Luca Bosco, Zeynep Bengi Eren, Katharina Steindl, Manuela Friederike Richter, Guney Bademci, Anita Rauch, Zohreh Fattahi, Maria Lucia Valentino, Anne M. Connolly, Angela Bahr, Laura Viola, Anke Katharina Bergmann, Maria Eugenia Rocha, LeShon Peart, Derly Liseth Castro-Rojas, Eva Bültmann, Suliman Khan, Miriam Liliana Giarrana, Raluca Ioana Teleanu, Joanna Michelle Gonzalez, Antonella Pini, Ines Sophie Schädlich, Katharina Vill, Melanie Brugger, Stephan Zuchner, Andreia Pinto, Sandra Donkervoort, Stephanie Ann Bivona, Anca Riza, Undiagnosed Diseases Network, Ioana Streata, Dieter Gläser, Carolina Baquero-Montoya, Natalia Garcia-Restrepo, Urania Kotzaeridou, Theresa Brunet, Diana Anamaria Epure, Aida Bertoli-Avella, Ariana Kariminejad, Mustafa Tekin, Sandra von Hardenberg, Carsten G. Bönnemann, Georg M. Stettner, Ginevra Zanni, Hülya Kayserili, Zehra Piraye Oflazer, Nathalie Escande-Beillard
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-19 (2024)
Abstract SNURPORTIN-1, encoded by SNUPN, plays a central role in the nuclear import of spliceosomal small nuclear ribonucleoproteins. However, its physiological function remains unexplored. In this study, we investigate 18 children from 15 unrelated
Externí odkaz:
https://doaj.org/article/bcbaa63ccab94af78752b6e4bbdb83c5
Autor:
Veria Vacchiano, Flavia Palombo, Danara Ormanbekova, Claudio Fiorini, Alessia Fiorentino, Leonardo Caporali, Andrea Mastrangelo, Maria Lucia Valentino, Sabina Capellari, Rocco Liguori, Valerio Carelli
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with a complex genetic architecture, showing monogenic, oligogenic, and polygenic inheritance. In this study, we describe the case of a 71 years-old man diagnosed with ALS with atypic
Externí odkaz:
https://doaj.org/article/92dfbb44ead243a4850c6d5d82dcade9
Autor:
Nneka Southwell, Guido Primiano, Viraj Nadkarni, Nabeel Attarwala, Emelie Beattie, Dawson Miller, Sumaitaah Alam, Irene Liparulo, Yevgeniya I Shurubor, Maria Lucia Valentino, Valerio Carelli, Serenella Servidei, Steven S Gross, Giovanni Manfredi, Qiuying Chen, Marilena D'Aurelio
Publikováno v:
EMBO Molecular Medicine, Vol 15, Iss 7, Pp 1-26 (2023)
Abstract Mitochondrial diseases are a heterogeneous group of monogenic disorders that result from impaired oxidative phosphorylation (OXPHOS). As neuromuscular tissues are highly energy‐dependent, mitochondrial diseases often affect skeletal muscle
Externí odkaz:
https://doaj.org/article/3ac8c9834e7f48439c744d6d9391fd6b
Autor:
Jelena Misic, Dusanka Milenkovic, Ali Al-Behadili, Xie Xie, Min Jiang, Shan Jiang, Roberta Filograna, Camilla Koolmeister, Stefan J Siira, Louise Jenninger, Aleksandra Filipovska, Anders R Clausen, Leonardo Caporali, Maria Lucia Valentino, Chiara La Morgia, Valerio Carelli, Thomas J Nicholls, Anna Wredenberg, Maria Falkenberg, Nils-Göran Larsson
Publikováno v:
Nucleic Acids Res
The in vivo role for RNase H1 in mammalian mitochondria has been much debated. Loss of RNase H1 is embryonic lethal and to further study its role in mtDNA expression we characterized a conditional knockout of Rnaseh1 in mouse heart. We report that RN
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7dcd16c7d756754674095ebb51a588ff
https://doi.org/10.1093/nar/gkac661
https://doi.org/10.1093/nar/gkac661
Autor:
Claudio Fiorini, Danara Ormanbekova, Flavia Palombo, Michele Carbonelli, Giulia Amore, Martina Romagnoli, Pietro d’Agati, Maria Lucia Valentino, Piero Barboni, Maria Lucia Cascavilla, Annamaria De Negri, Federico Sadun, Arturo Carta, Francesco Testa, Vittoria Petruzzella, Silvana Guerriero, Stefania Bianchi Marzoli, Valerio Carelli, Chiara La Morgia, Leonardo Caporali
Publikováno v:
Brain.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a8abc53e5530682f47709a27d8e633cd
https://doi.org/10.1093/brain/awad080
https://doi.org/10.1093/brain/awad080
Autor:
Leonardo Caporali, Lara Alvisi, Daniela Fulitano, Barbara Mostacci, Raffaella Minardi, Valerio Carelli, Chiara La Morgia, Patrizia Avoni, Lorenzo Ferri, Rocco Liguori, Paolo Tinuper, Corrado Zenesini, Francesca Bisulli, Maria Lucia Valentino, Lidia Di Vito, Laura Licchetta
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 8, Iss 3, Pp 704-710 (2021)
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology
The study aims to characterize the epilepsy phenotype of maternally inherited Leigh's syndrome (MILS) and neuropathy, ataxia, retinitis pigmentosa (NARP) due to mutations in the mitochondrial ATP6 gene and to correlate electroclinical features with m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c24ee1c2146f6edb4fd299b45baa11f4
https://doaj.org/article/e690895416d44998b922be907eb744e1
https://doaj.org/article/e690895416d44998b922be907eb744e1
Autor:
Tommaso Pippucci, Alessandra Maresca, Pamela Magini, Giovanna Cenacchi, Vincenzo Donadio, Flavia Palombo, Valentina Papa, Alex Incensi, Giuseppe Gasparre, Maria Lucia Valentino, Carmela Preziuso, Annalinda Pisano, Michele Ragno, Rocco Liguori, Carla Giordano, Caterina Tonon, Raffaele Lodi, Antonia Parmeggiani, Valerio Carelli, Marco Seri
Publikováno v:
EMBO Molecular Medicine, Vol 7, Iss 6, Pp 848-858 (2015)
Abstract Notch signaling is essential for vascular physiology. Neomorphic heterozygous mutations in NOTCH3, one of the four human NOTCH receptors, cause cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADAS
Externí odkaz:
https://doaj.org/article/420851423e1b455bab5ab25116d4ca8c
Autor:
Marco Percetti, Giulia Franco, Edoardo Monfrini, Leonardo Caporali, Raffaella Minardi, Chiara La Morgia, Maria Lucia Valentino, Rocco Liguori, Ilaria Palmieri, Donatella Ottaviani, Maria Vizziello, Dario Ronchi, Federica Di Berardino, Antoniangela Cocco, Bertil Macao, Maria Falkenberg, Giacomo Pietro Comi, Alberto Albanese, Bruno Giometto, Enza Maria Valente, Valerio Carelli, Alessio Di Fonzo
Background: Parkinsonian features have been described in patients harboring variants in nuclear genes encoding for proteins involved in mitochondrial DNA maintenance, such as TWNK. Objectives: The aim was to screen for TWNK variants in an Italian coh
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d63f7ad41cf232b71c5031c372945cd
https://hdl.handle.net/2434/934611
https://hdl.handle.net/2434/934611
