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Mostrati risultati da 19 a 37 di 37
Data di pubblicazione Titolo Autore(i) File
1-gen-2020 An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome Adler, Arnon; Novelli, Valeria; Amin, Ahmad S; Abiusi, Emanuela; Care, Melanie; Nannenberg, Eline A; Feilotter, Harriet; Amenta, Simona; Mazza, Daniela; Bikker, Hennie; Sturm, Amy C; Garcia, John; Ackerman, Michael J; Hershberger, Raymond E; Perez, Marco V; Zareba, Wojciech; Ware, James S; Wilde, Arthur A M; Gollob, Michael H
1-gen-2015 Lamin A/C sustains PcG protein architecture, maintaining transcriptional repression at target genes Cesarini, E.; Mozzetta, C.; Marullo, F.; Gregoretti, F.; Gargiulo, A.; Columbaro, M.; Cortesi, A.; Antonelli, L.; Di Pelino, S.; Squarzoni, S.; Palacios, Daniela; Zippo, A.; Bodega, B.; Oliva, G.; Lanzuolo, C.
1-gen-2016 Landscape determinants of fine-scale genetic structure of a small rodent in a heterogeneous landscape (Hluhluwe-iMfolozi Park, South Africa) Russo, Isa-Rita M.; Sole, Catherine L.; Barbato, Mario; Von Bramann, Ullrich; Bruford, Michael W.
1-gen-2013 Loss of function of C9orf72 causes motor deficits in a zebrafish model of amyotrophic lateral sclerosis Ciura, S; Lattante, Serena; Le Ber, I; Latouche, M; Tostivint, H; Brice, A; Kabashi, E.
1-gen-2014 Mitochondrial DNA lineages of Italian Giara and Sarcidano horses Morelli, L.; Useli, A.; Sanna, D.; Barbato, M.; Contu, D.; Pala, M.; Cancedda, M.; Francalacci, P.
1-gen-2015 A myopathy with unusual features caused by PNPLA2 gene mutations Pennisi, Elena Maria; Missaglia, Sara; Dimauro, Salvatore; Bernardi, Cinzia; Akman, Hasan Orhan; Tavian, Daniela
1-gen-2022 Nanomedicine, a valuable tool for skeletal muscle disorders: Challenges, promises, and limitations Colapicchioni, V.; Millozzi, F.; Parolini, Ornella; Palacios, Daniela
1-gen-2016 New ALS-related genes expand the spectrum paradigm of amyotrophic lateral sclerosis Sabatelli, Mario; Marangi, Giuseppe; Conte, Amelia; Tasca, Giorgio; Zollino, Marcella; Lattante, Serena
1-gen-2021 The nonsense mutation stop+4 model correlates with motor changes in Duchenne muscular dystrophy Brogna, Claudia; Coratti, Giorgia; Rossi, R.; Neri, M.; Messina, S.; Amico, A. D.; Bruno, C.; Lucibello, Simona; Vita, G.; Berardinelli, A.; Magri, F.; Ricci, F.; Pedemonte, M.; Mongini, T.; Battini, Roberta; Bello, L.; Pegoraro, E.; Baranello, Giovanni; Politano, L.; Comi, G. P.; Sansone, V. A.; Albamonte, E.; Donati, A.; Bertini, Enrico Silvio; Goemans, N.; Previtali, S.; Bovis, F.; Pane, Marika; Ferlini, A.; Mercuri, Eugenio Maria
1-gen-2015 Novel missense mutations in PNPLA2 causing late onset and clinical heterogeneity of neutral lipid storage disease with myopathy in three siblings Missaglia, Sara; Tasca, Elisabetta; Angelini, Corrado; Moro, Laura; Tavian, Daniela
1-gen-2022 Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita Laquerriere, Annie; Jaber, Dana; Abiusi, Emanuela; Maluenda, Jérome; Mejlachowicz, Dan; Vivanti, Alexandre; Dieterich, Klaus; Stoeva, Radka; Quevarec, Loic; Nolent, Flora; Biancalana, Valerie; Latour, Philippe; Sternberg, Damien; Capri, Yline; Verloes, Alain; Bessieres, Bettina; Loeuillet, Laurence; Attie-Bitach, Tania; Martinovic, Jelena; Blesson, Sophie; Petit, Florence; Beneteau, Claire; Whalen, Sandra; Marguet, Florent; Bouligand, Jerome; Héron, Delphine; Viot, Géraldine; Amiel, Jeanne; Amram, Daniel; Bellesme, Céline; Bucourt, Martine; Faivre, Laurence; Jouk, Pierre-Simon; Khung, Suonavy; Sigaudy, Sabine; Delezoide, Anne-Lise; Goldenberg, Alice; Jacquemont, Marie-Line; Lambert, Laetitia; Layet, Valérie; Lyonnet, Stanislas; Munnich, Arnold; Van Maldergem, Lionel; Piard, Juliette; Guimiot, Fabien; Landrieu, Pierre; Letard, Pascaline; Pelluard, Fanny; Perrin, Laurence; Saint-Frison, Marie-Hélène; Topaloglu, Haluk; Trestard, Laetitia; Vincent-Delorme, Catherine; Amthor, Helge; Barnerias, Christine; Benachi, Alexandra; Bieth, Eric; Boucher, Elise; Cormier-Daire, Valerie; Delahaye-Duriez, Andrée; Desguerre, Isabelle; Eymard, Bruno; Francannet, Christine; Grotto, Sarah; Lacombe, Didier; Laffargue, Fanny; Legendre, Marine; Martin-Coignard, Dominique; Mégarbané, André; Mercier, Sandra; Nizon, Mathilde; Rigonnot, Luc; Prieur, Fabienne; Quélin, Chloé; Ranjatoelina-Randrianaivo, Hanitra; Resta, Nicoletta; Toutain, Annick; Verhelst, Helene; Vincent, Marie; Colin, Estelle; Fallet-Bianco, Catherine; Granier, Michèle; Grigorescu, Romulus; Saada, Julien; Gonzales, Marie; Guiochon-Mantel, Anne; Bessereau, Jean-Louis; Tawk, Marcel; Gut, Ivo; Gitiaux, Cyril; Melki, Judith
1-gen-2011 Phosphoryl-EZH-ion Caretti, G.; Palacios, Daniela; Sartorelli, V.; Puri, P. L.
1-gen-2017 Praja1 E3 ubiquitin ligase promotes skeletal myogenesis through degradation of EZH2 upon p38α activation Consalvi, S.; Brancaccio, A.; Dall'Agnese, A.; Puri, P. L.; Palacios, Daniela
1-gen-2019 Rare Pathogenic Variants Predispose to Hepatocellular Carcinoma in Nonalcoholic Fatty Liver Disease Pelusi, Serena; Baselli, Guido; Pietrelli, Alessandro; Dongiovanni, Paola; Donati, Maria Benedetta; Mccain, Misti Vanette; Meroni, Marica; Fracanzani, Anna Ludovica; Romagnoli, Renato; Petta, Salvatore; Grieco, Antonio; Miele, Luca; Soardo, Giorgio; Bugianesi, Elisabetta; Fargion, Silvia; Aghemo, Alessio; D'Ambrosio, Roberta; Xing, Chao; Romeo, Stefano; De Francesco, Raffaele; Reeves, Helen Louise; Valenti, Luca Vittorio Carlo
1-gen-2009 Recent origin and spread of a common Welsh MAPT splice mutation causing frontotemporal lobar degeneration. Colombo, Roberto; Tavian, Daniela; Baker, Matthew; Richardson, Anna; Snowden, Julie; Neary, David; Mann, David; Pickering Brown, Stuart
1-gen-2015 SNeP: A tool to estimate trends in recent effective population size trajectories using genome-wide SNP data Barbato, Mario; Orozco-terWengel, Pablo; Tapio, Miika; Bruford, Michael W.
1-gen-2012 Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy Is Caused by Mutations in ASAH1 Zhou, J; Tawk, M; Tiziano, Francesco Danilo; Veillet, J; Bayes, M; Nolent, F; Garcia, V; Servidei, Serenella; Bertini, E; Castro Giner, F; Renda, Y; Carpentier, S; Andrieu Abadie, N; Gut, I; Levade, T; Topaloglu, H; Melki, J.
1-gen-2015 Sqstm1 knock-down causes a locomotor phenotype ameliorated by rapamycin in a zebrafish model of ALS/FTLD Lattante, Serena; De Calbiac, H; Le Ber, I; Brice, A; Ciura, S; Kabashi, E.
1-gen-2010 TNF/p38α/polycomb signaling to Pax7 locus in satellite cells links inflammation to the epigenetic control of muscle regeneration Palacios, Daniela; Mozzetta, C.; Consalvi, S.; Caretti, G.; Saccone, Valentina; Proserpio, V.; Marquez, V. E.; Valente, S.; Mai, A.; Forcales, S. V.; Sartorelli, V.; Puri, P. L.
Mostrati risultati da 19 a 37 di 37
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