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收藏A WFS1 variant disrupting acceptor splice site uncovers the impact of alternative splicing on beta cell apoptosis in a patient with Wolfram syndrome
Chimienti, Raniero; Torchio, Silvia; Siracusano, Gabriel; Zamarian, Valentina; Monaco, Laura; Lombardo, Marta Tiffany; Pellegrini, Silvia; Manenti, Fabio; Cuozzo, Federica; Rossi, Greta; Carrera, Paola; Sordi, Valeria; Broccoli, Vania; Bonfanti, Riccardo; Casari, Giorgio; Frontino, Giulio; Piemonti, Lorenzo 分享 收藏 Severe West Nile Virus and Severe Acute Respiratory Syndrome Coronavirus 2 Infections in a Patient With Thymoma and Anti-Type I Interferon Antibodies胸腺瘤和抗I型干扰素抗体患者的严重西尼罗河病毒和新型冠状病毒感染Barzaghi, Federica; Visconti, Camilla; Pipitone, Giovanni Battista; Bondesan, Simone; Molli, Giulia; Giannelli, Stefania; Sartirana, Claudia; Lampasona, Vito; Bazzigaluppi, Elena; Brigatti, Cristina; Gervais, Adrian; Bastard, Paul; Din, Chiara Tassan; Molinari, Chiara; Piemonti, Lorenzo; Casanova, Jean-Laurent; Carrera, Paola; Casari, Giorgio; Aiuti, Alessandro 分享 收藏 Inflammation on Endomyocardial Biopsy Predicts Risk of MACE in Undefined Left Ventricular Arrhythmogenic Cardiomyopathy心内膜活检的炎症可预测不确定的左心室心律失常性心肌病的MACE风险Peretto, Giovanni; Casella, Michela; Merlo, Marco; Benedetti, Sara; Rizzo, Stefania; Cappelletto, Chiara; Di Resta, Chiara; Compagnucci, Paolo; De Gaspari, Monica; Dello Russo, Antonio; Casari, Giorgio; Basso, Cristina; Sala, Simone; Sinagra, Gianfranco; Della Bella, Paolo; Cooper Jr, Leslie T. 分享 收藏 Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias非扩张性脊髓小脑共济失调的极端表型异质性Cunha, Paulina; Petit, Emilien; Coutelier, Marie; Coarelli, Giulia; Mariotti, Caterina; Faber, Jennifer; Van Gaalen, Judith; Damasio, Joana; Fleszar, Zofia; Tosi, Michele; Rocca, Clarissa; De Michele, Giovanna; Minnerop, Martina; Ewenczyk, Claire; Santorelli, Filippo M.; Heinzmann, Anna; Bird, Thomas; Amprosi, Matthias; Indelicato, Elisabetta; Benussi, Alberto; Charles, Perrine; Stendel, Claudia; Romano, Silvia; Scarlato, Marina; Le Ber, Isabelle; Bassi, Maria Teresa; Serrano, Mercedes; Schmitz-Hubsch, Tanja; Doss, Sarah; Van Velzen, Gijs A. J.; Thomas, Quentin; Trabacca, Antonio; Ortigoza-Escobar, Juan Dario; D'Arrigo, Stefano; Timmann, Dagmar; Pantaleoni, Chiara; Martinuzzi, Andrea; Besse-Pinot, Elsa; Marsili, Luca; Cioffi, Ettore; Nicita, Francesco; Giorgetti, Alejandro; Moroni, Isabella; Romaniello, Romina; Casali, Carlo; Ponger, Penina; Casari, Giorgio; De Bot, Susanne T.; Ristori, Giovanni; Blumkin, Lubov; Borroni, Barbara; Goizet, Cyril; Marelli, Cecilia; Boesch, Sylvia; Anheim, Mathieu; Filla, Alessandro; Houlden, Henry; Bertini, Enrico; Klopstock, Thomas; Synofzik, Matthis; Riant, Florence; Zanni, Ginevra; Magri, Stefania; Di Bella, Daniela; Nanetti, Lorenzo; Sequeiros, Jorge; Oliveira, Jorge; Warrenburg, Bart Van de; Schoels, Ludger; Taroni, Franco; Brice, Alexis; Durr, Alexandra 分享 收藏 分享 收藏 The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies新型冠状病毒肺炎死亡的风险更大，并且与I型IFN自身抗体的年龄有关Manry, Jeremy; Bastard, Paul; Gervais, Adrian; Le Voyer, Tom; Rosain, Jeremie; Philippot, Quentin; Michailidis, Eleftherios; Hoffmann, Hans-Heinrich; Eto, Shohei; Garcia-Prat, Marina; Bizien, Lucy; Parra-Martinez, Alba; Yang, Rui; Haljasmagi, Liis; Migaud, Melanie; Sarekannu, Karita; Maslovskaja, Julia; de Prost, Nicolas; Tandjaoui-Lambiotte, Yacine; Luyt, Charles-Edouard; Amador-Borrero, Blanca; Gaudet, Alexandre; Poissy, Julien; Morel, Pascal; Richard, Pascale; Cognasse, Fabrice; Troya, Jesus; Trouillet-Assant, Sophie; Belot, Alexandre; Saker, Kahina; Garcon, Pierre; Riviere, Jacques G.; Lagier, Jean-Christophe; Gentile, Stephanie; Rosen, Lindsey B.; Shaw, Elana; Morio, Tomohiro; Tanaka, Junko; Dalmau, David; Tharaux, Pierre-Louis; Sene, Damien; Stepanian, Alain; Megarbane, Bruno; Triantafyllia, Vasiliki; Fekkar, Arnaud; Heath, James R.; Franco, Jose Luis; Anaya, Juan-Manuel; Sole-Violan, Jordi; Imberti, Luisa; Biondi, Andrea; Bonfanti, Paolo; Castagnoli, Riccardo; Delmonte, Ottavia M.; Zhang, Yu; Snow, Andrew L.; Holland, Steven M.; Biggs, Catherine M.; Moncada-Velez, Marcela; Arias, Andres Augusto; Lorenzo, Lazaro; Boucherit, Soraya; Anglicheau, Dany; Planas, Anna M.; Haerynck, Filomeen; Duvlis, Sotirija; Ozcelik, Tayfun; Keles, Sevgi; Bousfiha, Ahmed A.; El Bakkouri, Jalila; Ramirez-Santana, Carolina; Paul, Stephane; Pan-Hammarstrom, Qiang; Hammarstrom, Lennart; Dupont, Annabelle; Kurolap, Alina; Metz, Christine N.; Aiuti, Alessandro; Casari, Giorgio; Lampasona, Vito; Ciceri, Fabio; Barreiros, Lucila A.; Dominguez-Garrido, Elena; Vidigal, Mateus; Zatz, Mayana; van de Beek, Diederik; Sahanic, Sabina; Tancevski, Ivan; Stepanovskyy, Yurii; Boyarchuk, Oksana; Nukui, Yoko; Tsumura, Miyuki; Vidaur, Loreto; Tangye, Stuart G.; Burrel, Sonia; Duffy, Darragh; Quintana-Murci, Lluis; Klocperk, Adam; Kann, Nelli Y.; Shcherbina, Anna; Lau, Yu-Lung; Leung, Daniel; Coulongeat, Matthieu; Marlet, Julien; Koning, Rutger; Reyes, Luis Felipe; Chauvineau-Grenier, Angelique; Venet, Fabienne; Monneret, Guillaume; Nussenzweig, Michel C.; Arrestier, Romain; Boudhabhay, Idris; Baris-Feldman, Hagit; Hagin, David; Wauters, Joost; Meyts, Isabelle; Dyer, Adam H.; Kennelly, Sean; Bourkeh, Nollaig M.; Halwan, Rabih; Sharif-Askar, Fatemeh Saheb; Dorgham, Karim; Sallette, Jerome; Sedkaoui, Souad Mehlal; AlKhater, Suzan; Rigo-Bonnin, Raul; Morandeira, Francisco; Roussel, Lucie; Vinh, Donald C.; Erikstrup, Christian; Condino-Neto, Antonio; Prando, Carolina; Bondarenko, Anastasiia; Spaan, Andras N.; Gilardin, Laurent; Fellay, Jacques; Lyonnet, Stanislas; Bilguvar, Kaya; Lifton, Richard P.; Mane, Shrikant; Anderson, Mark S.; Boisson, Bertrand; Beziat, Vivien; Zhang, Shen-Ying; Andreakos, Evangelos; Hermine, Olivier; Pujol, Aurora; Peterson, Part; Mogensen, Trine H.; Rowen, Lee; Mond, James; Debette, Stephanie; de Lamballerie, Xavier; Burdet, Charles; Bouadma, Lila; Zins, Marie; Soler-Palacin, Pere; Colobran, Roger; Gorochov, Guy; Solanich, Xavier; Susen, Sophie; Martinez-Picado, Javier; Raoult, Didier; Vasse, Marc; Gregersen, Peter K.; Piemonti, Lorenzo; Rodriguez-Gallego, Carlos; D Notarangelo, Luigi; Su, Helen C.; Kisand, Kai; Okada, Satoshi; Puel, Anne; Jouanguy, Emmanuelle; Rice, Charles M.; Tiberghien, Pierre; Zhang, Qian; Casanova, Jean-Laurent; Abel, Laurent; Cobat, Aurelie 分享 收藏 分享 收藏 X-linked recessive TLR7 deficiency in ∼1% of men under 60 years old with life-threatening COVID-19X连锁隐性TLR7缺乏症在60岁以下男性 ~ 1% 与危及生命的新型冠状病毒肺炎Asano, Takaki; Boisson, Bertrand; Onodi, Fanny; Matuozzo, Daniela; Moncada-Velez, Marcela; Renkilaraj, Majistor Raj Luxman Maglorius; Zhang, Peng; Meertens, Laurent; Bolze, Alexandre; Materna, Marie; Korniotis, Sarantis; Gervais, Adrian; Talouarn, Estelle; Bigio, Benedetta; Seeleuthner, Yoann; Bilguvar, Kaya; Zhang, Yu; Neehus, Anna-Lena; Ogishi, Masato; Pelham, Simon J.; Le Voyer, Tom; Rosain, Jeremie; Philippot, Quentin; Soler-Palacin, Pere; Colobran, Roger; Martin-Nalda, Andrea; Riviere, Jacques G.; Tandjaoui-Lambiotte, Yacine; Chaibi, Khalil; Shahrooei, Mohammad; Darazam, Ilad Alavi; Olyaei, Nasrin Alipour; Mansouri, Davood; Palabiyik, Figen; Ozcelik, Tayfun; Novelli, Giuseppe; Novelli, Antonio; Casari, Giorgio; Aiuti, Alessandro; Carrera, Paola; Bondesan, Simone; Barzaghi, Federica; Rovere-Querini, Patrizia; Tresoldi, Cristina; Franco, Jose Luis; Rojas, Julian; Reyes, Luis Felipe; Bustos, Ingrid G.; Arias, Andres Augusto; Morelle, Guillaume; Kyheng, Christele; Troya, Jesus; Planas-Serra, Laura; Schluter, Agatha; Gut, Marta; Pujol, Aurora; Allende, Luis M.; Rodriguez-Gallego, Carlos; Flores, Carlos; Cabrera-Marante, Oscar; Pleguezuelo, Daniel E.; de Diego, Rebeca Perez; Keles, Sevgi; Aytekin, Gokhan; Akcan, Ozge Metin; Bryceson, Yenan T.; Bergman, Peter; Brodin, Petter; Smole, Daniel; Smith, C. I. Edvard; Norlin, Anna-Carin; Campbell, Tessa M.; Covill, Laura E.; Hammarstrom, Lennart; Pan-Hammarstrom, Qiang; Abolhassani, Hassan; Mane, Shrikant; Marr, Nico; Ata, Manar; Al Ali, Fatima; Khan, Taushif; Spaan, Andras N.; Dalgard, Clifton L.; Bonfanti, Paolo; Biondi, Andrea; Tubiana, Sarah; Burdet, Charles; Nussbaum, Robert; Kahn-Kirby, Amanda; Snow, Andrew L.; Bustamante, Jacinta; Puel, Anne; Boisson-Dupuis, Stephanie; Zhang, Shen-Ying; Beziat, Vivien; Lifton, Richard P.; Bastard, Paul; Notarangelo, Luigi D.; Abel, Laurent; Su, Helen C.; Jouanguy, Emmanuelle; Amara, Ali; Soumelis, Vassili; Cobat, Aurelie; Zhang, Qian; Casanova, Jean-Laurent 分享 收藏 Autoantibodies neutralizing type I IFNs are present in ∼4% of uninfected individuals over 70 years old and account for ∼20% of COVID-19 deaths中和I型干扰素的自身抗体存在于70岁以上未感染者的4% 中，占新型冠状病毒肺炎死亡的20%Bastard, Paul; Gervais, Adrian; Le Voyer, Tom; Rosain, Jeremie; Philippot, Quentin; Manry, Jeremy; Michailidis, Eleftherios; Hoffmann, Hans-Heinrich; Eto, Shohei; Garcia-Prat, Marina; Bizien, Lucy; Parra-Martinez, Alba; Yang, Rui; Haljasmagi, Liis; Migaud, Melanie; Sarekannu, Karita; Maslovskaja, Julia; de Prost, Nicolas; Tandjaoui-Lambiotte, Yacine; Luyt, Charles-Edouard; Amador-Borrero, Blanca; Gaudet, Alexandre; Poissy, Julien; Morel, Pascal; Richard, Pascale; Cognasse, Fabrice; Troya, Jesus; Trouillet-Assant, Sophie; Belot, Alexandre; Saker, Kahina; Garcon, Pierre; Riviere, Jacques G.; Lagier, Jean-Christophe; Gentile, Stephanie; Rosen, Lindsey B.; Shaw, Elana; Morio, Tomohiro; Tanaka, Junko; Dalmau, David; Tharaux, Pierre-Louis; Sene, Damien; Stepanian, Alain; Megarbane, Bruno; Triantafyllia, Vasiliki; Fekkar, Arnaud; Heath, James R.; Franco, Jose Luis; Anaya, Juan-Manuel; Sole-Violan, Jordi; Imberti, Luisa; Biondi, Andrea; Bonfanti, Paolo; Castagnoli, Riccardo; Delmonte, Ottavia M.; Zhang, Yu; Snow, Andrew L.; Holland, Steven M.; Biggs, Catherine M.; Moncada-Velez, Marcela; Arias, Andres Augusto; Lorenzo, Lazaro; Boucherit, Soraya; Coulibaly, Boubacar; Anglicheau, Dany; Planas, Anna M.; Haerynck, Filomeen; Duvlis, Sotirija; Nussbaum, Robert L.; Ozcelik, Tayfun; Keles, Sevgi; Bousfiha, Ahmed A.; El Bakkouri, Jalila; Ramirez-Santana, Carolina; Paul, Stephane; Pan-Hammarstrom, Qiang; Hammarstrom, Lennart; Dupont, Annabelle; Kurolap, Alina; Metz, Christine N.; Aiuti, Alessandro; Casari, Giorgio; Lampasona, Vito; Ciceri, Fabio; Barreiros, Lucila A.; Dominguez-Garrido, Elena; Vidigal, Mateus; Zatz, Mayana; van de Beek, Diederik; Sahanic, Sabina; Tancevski, Ivan; Stepanovskyy, Yurii; Boyarchuk, Oksana; Nukui, Yoko; Tsumura, Miyuki; Vidaur, Loreto; Tangye, Stuart G.; Burrel, Sonia; Duffy, Darragh; Quintana-Murci, Lluis; Klocperk, Adam; Kann, Nelli Y.; Shcherbina, Anna; Lau, Yu-Lung; Leung, Daniel; Coulongeat, Matthieu; Marlet, Julien; Koning, Rutger; Reyes, Luis Felipe; Chauvineau-Grenier, Angelique; Venet, Fabienne; Monneret, Guillaume; Nussenzweig, Michel C.; Arrestier, Romain; Boudhabhay, Idris; Baris-Feldman, Hagit; Hagin, David; Wauters, Joost; Meyts, Isabelle; Dyer, Adam H.; Kennelly, Sean P.; Bourke, Nollaig M.; Halwani, Rabih; Sharif-Askari, Narjes Saheb; Dorgham, Karim; Sallette, Jerome; Sedkaoui, Souad Mehlal; AlKhater, Suzan; Rigo-Bonnin, Raul; Morandeira, Francisco; Roussel, Lucie; Vinh, Donald C.; Ostrowski, Sisse Rye; Condino-Neto, Antonio; Prando, Carolina; Bondarenko, Anastasiia; Spaan, Andras N.; Gilardin, Laurent; Fellay, Jacques; Lyonnet, Stanislas; Bilguvar, Kaya; Lifton, Richard P.; Mane, Shrikant; Anderson, Mark S.; Boisson, Bertrand; Beziat, Vivien; Zhang, Shen-Ying; Andreakos, Evangelos; Hermine, Olivier; Pujol, Aurora; Peterson, Part; Mogensen, Trine H.; Rowen, Lee; Mond, James; Debette, Stephanie; de Lamballerie, Xavier; Duval, Xavier; Mentre, France; Zins, Marie; Soler-Palacin, Pere; Colobran, Roger; Gorochov, Guy; Solanich, Xavier; Susen, Sophie; Martinez-Picado, Javier; Raoult, Didier; Vasse, Marc; Gregersen, Peter K.; Piemonti, Lorenzo; Rodriguez-Gallego, Carlos; Notarangelo, Luigi D.; Su, Helen C.; Kisand, Kai; Okada, Satoshi; Puel, Anne; Jouanguy, Emmanuelle; Rice, Charles M.; Tiberghien, Pierre; Zhang, Qian; Cobat, Aurelie; Abel, Laurent; Casanova, Jean-Laurent 分享 收藏 分享 收藏 Brugada syndrome genetics is associated with phenotype severityCiconte, Giuseppe; Monasky, Michelle M.; Santinelli, Vincenzo; Micaglio, Emanuele; Vicedomini, Gabriele; Anastasia, Luigi; Negro, Gabriele; Borrelli, Valeria; Giannelli, Luigi; Santini, Francesca; de Innocentiis, Carlo; Rondine, Roberto; Locati, Emanuela T.; Bernardini, Andrea; Mazza, Beniamino C.; Mecarocci, Valerio; Calovic, Zarko; Ghiroldi, Andrea; D'Imperio, Sara; Benedetti, Sara; Di Resta, Chiara; Rivolta, Ilaria; Casari, Giorgio; Petretto, Enrico; Pappone, Carlo 分享 收藏 Impaired flickering of the permeability transition pore causes SPG7 spastic paraplegia渗透性过渡孔的闪烁受损导致SPG7痉挛性截瘫Sambri, Irene; Massa, Filomena; Gullo, Francesca; Meneghini, Simone; Cassina, Laura; Carraro, Michela; Dina, Giorgia; Quattrini, Angelo; Patanella, Lorenzo; Carissimo, Annamaria; Iuliano, Antonella; Santorelli, Filippo; Codazzi, Franca; Grohovaz, Fabio; Bernardi, Paolo; Becchetti, Andrea; Casari, Giorgio 分享 收藏 Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathyCarvill, Gemma L.; Helbig, Katherine L.; Myers, Candace T.; Scala, Marcello; Huether, Robert; Lewis, Sara; Kruer, Tyler N.; Guida, Brandon S.; Bakhtiari, Somayeh; Sebe, Joy; Tang, Sha; Stickney, Heather; Oktay, Sehribani Ulusoy; Bhandiwad, Ashwin A.; Ramsey, Keri; Narayanan, Vinodh; Feyma, Timothy; Rohena, Luis O.; Accogli, Andrea; Severino, Mariasavina; Hollingsworth, Georgina; Gill, Deepak; Depienne, Christel; Nava, Caroline; Sadleir, Lynette G.; Caruso, Paul A.; Lin, Angela E.; Jansen, Floor E.; Koeleman, Bobby; Brilstra, Eva; Willemsen, Marjolein H.; Kleefstra, Tjitske; Sa, Joaquim; Mathieu, Marie-Laure; Perrin, Laurine; Lesca, Gaetan; Striano, Pasquale; Casari, Giorgio; Scheffer, Ingrid E.; Raible, David; Sattlegger, Evelyn; Capra, Valeria; Padilla-Lopez, Sergio; Mefford, Heather C.; Kruer, Michael C. 分享 收藏 Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3Florian, Rahel T.; Kraft, Florian; Leitao, Elsa; Kaya, Sabine; Klebe, Stephan; Magnin, Eloi; van Rootselaar, Anne-Fleur; Buratti, Julien; Kuehnel, Theresa; Schroeder, Christopher; Giesselmann, Sebastian; Tschernoster, Nikolai; Altmueller, Janine; lamiral, AnaiDe; Keren, Boris; Nava, Caroline; Bouteiller, Delphine; Forlani, Sylvie; Jornea, Ludmila; Kubica, Regina; Ye, Tao; Plassard, Damien; Jost, Bernard; Meyer, Vincent; Deleuze, Jean-Francois; Delpu, Yannick; Avarello, Mario D. M.; Vijfhuizen, Lisanne S.; Rudolf, Gabrielle; Hirsch, Edouard; Kroes, Thessa; Reif, Philipp S.; Rosenow, Felix; Ganos, Christos; Vidailhet, Marie; Thivard, Lionel; Mathieu, Alexandre; Bourgeron, Thomas; Kurth, Ingo; Rafehi, Haloom; Steenpass, Laura; Horsthemke, Bernhard; Berkovic, Samuel F.; Bisulli, Francesca; Brancati, Francesco; Canafoglia, Laura; Casari, Giorgio; Guerrini, Renzo; Ishiura, Hiroyuki; Licchetta, Laura; Mei, Davide; Pippucci, Tommaso; Sadleir, Lynette; Scheffer, Ingrid E.; Striano, Pasquale; Tinuper, Paolo; Tsuji, Shoji; Zara, Federico; LeGuern, Eric; Klein, Karl Martin; Labauge, Pierre; Bennett, Mark F.; Bahlo, Melanie; Gecz, Jozef; Corbett, Mark A.; Tijssen, Marina A. J.; van den Maagdenberg, Arn M. J. M.; Depienne, Christel 分享 收藏 Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2Corbett, Mark A.; Kroes, Thessa; Veneziano, Liana; Bennett, Mark F.; Florian, Rahel; Schneider, Amy L.; Coppola, Antonietta; Licchetta, Laura; Franceschetti, Silvana; Suppa, Antonio; Wenger, Aaron; Mei, Davide; Pendziwiat, Manuela; Kaya, Sabine; Delledonne, Massimo; Straussberg, Rachel; Xumerle, Luciano; Regan, Brigid; Crompton, Douglas; van Rootselaar, Anne-Fleur; Correll, Anthony; Catford, Rachael; Bisulli, Francesca; Chakraborty, Shreyasee; Baldassari, Sara; Tinuper, Paolo; Barton, Kirston; Carswell, Shaun; Smith, Martin; Berardelli, Alfredo; Carroll, Renee; Gardner, Alison; Friend, Kathryn L.; Blatt, Ilan; Iacomino, Michele; Di Bonaventura, Carlo; Striano, Salvatore; Buratti, Julien; Keren, Boris; Nava, Caroline; Forlani, Sylvie; Rudolf, Gabrielle; Hirsch, Edouard; Leguern, Eric; Labauge, Pierre; Balestrini, Simona; Sander, Josemir W.; Afawi, Zaid; Helbig, Ingo; Ishiura, Hiroyuki; Tsuji, Shoji; Sisodiya, Sanjay M.; Casari, Giorgio; Sadleir, Lynette G.; van Coller, Riaan; Tijssen, Marina A. J.; Klein, Karl Martin; van den Maagdenberg, Arn M. J. M.; Zara, Federico; Guerrini, Renzo; Berkovic, Samuel F.; Pippucci, Tommaso; Canafoglia, Laura; Bahlo, Melanie; Striano, Pasquale; Scheffer, Ingrid E.; Brancati, Francesco; Depienne, Christel; Gecz, Jozef 分享 收藏 TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease modelTBC1D24-TLDc-related癫痫运动诱发的肌张力障碍: 在疾病模型中通过抗氧化剂进行拯救Luthy, Kevin; Mei, Davide; Fischer, Baptiste; De Fusco, Maurizio; Swerts, Jef; Paesmans, Jone; Parrini, Elena; Lubarr, Naomi; Meijer, Inge A.; Mackenzie, Katherine M.; Lee, Wang-Tso; Cittaro, Davide; Aridon, Paolo; Schoovaerts, Nils; Versees, Wim; Verstreken, Patrik; Casari, Giorgio; Guerrini, Renzo 分享 收藏 Mice harbouring a SCA28 patient mutation in AFG3L2 develop late-onset ataxia associated with enhanced mitochondrial proteotoxicityMancini, Cecilia; Hoxha, Eriola; Iommarini, Luisa; Brussino, Alessandro; Richter, Uwe; Montarolo, Francesca; Cagnoli, Claudia; Parolisi, Roberta; Morosini, Diana Iulia Gondor; Nicolo, Valentina; Maltecca, Francesca; Muratori, Luisa; Ronchi, Giulia; Geuna, Stefano; Arnaboldi, Francesca; Donetti, Elena; Giorgio, Elisa; Cavalieri, Simona; Di Gregorio, Eleonora; Pozzi, Elisa; Ferrero, Marta; Riberi, Evelise; Casari, Giorgio; Altruda, Fiorella; Turco, Emilia; Gasparre, Giuseppe; Battersby, Brendan J.; Porcelli, Anna Maria; Ferrero, Enza; Brusco, Alfredo; Tempia, Filippo 分享 收藏 Differential effect of FHM2 mutation on synaptic plasticity in distinct hippocampal regionsde Iure, Antonio; Mazzocchetti, Petra; Bastioli, Guendalina; Picconi, Barbara; Costa, Cinzia; Marchionni, Ivan; Casari, Giorgio; Tozzi, Alessandro; Pietrobon, Daniela; Calabresi, Paolo 分享 收藏 Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activationTulli, Susanna; Del Bondio, Andrea; Baderna, Valentina; Mazza, Davide; Codazzi, Franca; Pierson, Tyler Mark; Ambrosi, Alessandro; Nolte, Dagmar; Goizet, Cyril; Toro, Camilo; Baets, Jonathan; Deconinck, Tine; DeJonghe, Peter; Mandich, Paola; Casari, Giorgio; Maltecca, Francesca 分享 收藏 
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