Sfoglia per SSD
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita
2022 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
Phosphoryl-EZH-ion
2011 Caretti, G.; Palacios, Daniela; Sartorelli, V.; Puri, P. L.
Praja1 E3 ubiquitin ligase promotes skeletal myogenesis through degradation of EZH2 upon p38α activation
2017 Consalvi, S.; Brancaccio, A.; Dall'Agnese, A.; Puri, P. L.; Palacios, Daniela
Rare Pathogenic Variants Predispose to Hepatocellular Carcinoma in Nonalcoholic Fatty Liver Disease
2019 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
Recent origin and spread of a common Welsh MAPT splice mutation causing frontotemporal lobar degeneration.
2009 Colombo, Roberto; Tavian, Daniela; Baker, Matthew; Richardson, Anna; Snowden, Julie; Neary, David; Mann, David; Pickering Brown, Stuart
SNeP: A tool to estimate trends in recent effective population size trajectories using genome-wide SNP data
2015 Barbato, Mario; Orozco-terWengel, Pablo; Tapio, Miika; Bruford, Michael W.
Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy Is Caused by Mutations in ASAH1
2012 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.
Sqstm1 knock-down causes a locomotor phenotype ameliorated by rapamycin in a zebrafish model of ALS/FTLD
2015 Lattante, Serena; De Calbiac, H; Le Ber, I; Brice, A; Ciura, S; Kabashi, E.
TNF/p38α/polycomb signaling to Pax7 locus in satellite cells links inflammation to the epigenetic control of muscle regeneration
2010 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.
| Data di pubblicazione | Titolo | Autore(i) | File |
|---|---|---|---|
| 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. |
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