학술논문
'학술논문'
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1~10
Academic Journal
Journal of Neurology. 271(4):1802-1812
HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies.
Academic Journal
Tedesco, Barbara; Vendredy, Leen; Adriaenssens, Elias; Cozzi, Marta; Asselbergh, Bob; Crippa, Valeria; Cristofani, Riccardo; Rusmini, Paola; Ferrari, Veronica; Casarotto, Elena; Chierichetti, Marta; Mina, Francesco; Pramaggiore, Paola; Galbiati, Mariarita; Piccolella, Margherita; Baets, Jonathan; Baeke, Femke; De Rycke, Riet; Mouly, Vincent; Laurenzi, Tommaso; Eberini, Ivano; Vihola, Anna; Udd, Bjarne; Weiss, Lan; Timmerman, Vincent; Poletti, Angelo; Kimonis, Virginia
Autophagy. 19(8)
Academic Journal
Zhong, Huahua; Sian, Veronica; Johari, Mridul; Katayama, Shintaro; Oghabian, Ali; Jonson, Per Harald; Hackman, Peter; Savarese, Marco; Udd, Bjarne
Communications Biology. 7(1)
Academic Journal
Lehtonen, Johanna; Sulonen, Anna-Maija; Almusa, Henrikki; Lehtokari, Vilma-Lotta; Johari, Mridul; Palva, Aino; Hakonen, Anna H.; Wartiovaara, Kirmo; Lehesjoki, Anna-Elina; Udd, Bjarne; Wallgren-Pettersson, Carina; Pelin, Katarina; Savarese, Marco; Saarela, Janna
Scientific Reports. 14(1)
Academic Journal
Töpf, Ana; Cox, Dan; Zaharieva, Irina T.; Di Leo, Valeria; Sarparanta, Jaakko; Jonson, Per Harald; Sealy, Ian M.; Smolnikov, Andrei; White, Richard J.; Vihola, Anna; Savarese, Marco; Merteroglu, Munise; Wali, Neha; Laricchia, Kristen M.; Venturini, Cristina; Vroling, Bas; Stenton, Sarah L.; Cummings, Beryl B.; Harris, Elizabeth; Marini-Bettolo, Chiara; Diaz-Manera, Jordi; Henderson, Matt; Barresi, Rita; Duff, Jennifer; England, Eleina M.; Patrick, Jane; Al-Husayni, Sundos; Biancalana, Valerie; Beggs, Alan H.; Bodi, Istvan; Bommireddipalli, Shobhana; Bönnemann, Carsten G.; Cairns, Anita; Chiew, Mei-Ting; Claeys, Kristl G.; Cooper, Sandra T.; Davis, Mark R.; Donkervoort, Sandra; Erasmus, Corrie E.; Fassad, Mahmoud R.; Genetti, Casie A.; Grosmann, Carla; Jungbluth, Heinz; Kamsteeg, Erik-Jan; Lornage, Xavière; Löscher, Wolfgang N.; Malfatti, Edoardo; Manzur, Adnan; Martí, Pilar; Mongini, Tiziana E.; Muelas, Nuria; Nishikawa, Atsuko; O’Donnell-Luria, Anne; Ogonuki, Narumi; O’Grady, Gina L.; O’Heir, Emily; Paquay, Stéphanie; Phadke, Rahul; Pletcher, Beth A.; Romero, Norma B.; Schouten, Meyke; Shah, Snehal; Smuts, Izelle; Sznajer, Yves; Tasca, Giorgio; Taylor, Robert W.; Tuite, Allysa; Van den Bergh, Peter; VanNoy, Grace; Voermans, Nicol C.; Wanschitz, Julia V.; Wraige, Elizabeth; Yoshimura, Kimihiko; Oates, Emily C.; Nakagawa, Osamu; Nishino, Ichizo; Laporte, Jocelyn; Vilchez, Juan J.; MacArthur, Daniel G.; Sarkozy, Anna; Cordell, Heather J.; Udd, Bjarne; Busch-Nentwich, Elisabeth M.; Muntoni, Francesco; Straub, Volker
Nature Genetics. 56(3):395-407
Di Feo, Maria Francesca; Oghabian, Ali; Nippala, Ella; Gautel, Mathias; Jungbluth, Heinz; Forzano, Francesca; Malfatti, Edoardo; Castiglioni, Claudia; Krey, Ilona; Gomez Andres, David; Brady, Angela F.; Iascone, Maria; Cereda, Anna; Pezzani, Lidia; Natera De Benito, Daniel; Nascimiento Osorio, Andres; Estévez Arias, Berta; Kurbatov, Sergei A.; Attie-Bitach, Tania; Nampoothiri, Sheela; Ryan, Erin; Morrow, Michelle; Gorokhova, Svetlana; Chabrol, Brigitte; Sinisalo, Juha; Tolppanen, Heli; Tolva, Johanna; Munell, Francina; Camacho Soriano, Jessica; Sanchez Duran, Maria Angeles; Johari, Mridul; Tajsharghi, Homa; Hackman, Peter; Udd, Bjarne; Savarese, Marco
Annals of Clinical and Translational Neurology.
Academic Journal
Huahua Zhong; Veronica Sian; Mridul Johari; Shintaro Katayama; Ali Oghabian; Per Harald Jonson; Peter Hackman; Marco Savarese; Bjarne Udd
Communications Biology, Vol 7, Iss 1, Pp 1-9 (2024)
Academic Journal
Esteller, Diana; Schiava, Marianela; Verdú-Díaz, José; Villar-Quiles, Rocío-Nur; Dibowski, Boris; Venturelli, Nadia; Laforet, Pascal; Alonso-Pérez, Jorge; Olive, Montse; Domínguez-González, Cristina; Paradas, Carmen; Vélez, Beatriz; Kostera-Pruszczyk, Anna; Kierdaszuk, Biruta; Rodolico, Carmelo; Claeys, Kristl; Pál, Endre; Malfatti, Edoardo; Souvannanorath, Sarah; Alonso-Jiménez, Alicia; de Ridder, Willem; De Smet, Eline; Papadimas, George; Papadopoulos, Constantinos; Xirou, Sofia; Luo, Sushan; Muelas, Nuria; Vilchez, Juan J.; Ramos-Fransi, Alba; Monforte, Mauro; Tasca, Giorgio; Udd, Bjarne; Palmio, Johanna; Sri, Srtuhi; Krause, Sabine; Schoser, Benedikt; Fernández-Torrón, Roberto; López de Munain, Adolfo; Pegoraro, Elena; Farrugia, Maria Elena; Vorgerd, Mathias; Manousakis, Georgious; Chanson, Jean Baptiste; Nadaj-Pakleza, Aleksandra; Cetin, Hakan; Badrising, Umesh; Warman-Chardon, Jodi; Bevilacqua, Jorge; Earle, Nicholas; Campero, Mario; Díaz, Jorge; Ikenaga, Chiseko; Lloyd, Thomas E.; Nishino, Ichizo; Nishimori, Yukako; Saito, Yoshihiko; Oya, Yasushi; Takahashi, Yoshiaki; Nishikawa, Atsuko; Sasaki, Ryo; Marini-Bettolo, Chiara; Guglieri, Michela; Straub, Volker; Stojkovic, Tanya; Carlier, Robert Y.; Díaz-Manera, Jordi
Journal of Neurology. 271(4):2147-2148
Academic Journal
Johanna Lehtonen; Anna-Maija Sulonen; Henrikki Almusa; Vilma-Lotta Lehtokari; Mridul Johari; Aino Palva; Anna H. Hakonen; Kirmo Wartiovaara; Anna-Elina Lehesjoki; Bjarne Udd; Carina Wallgren-Pettersson; Katarina Pelin; Marco Savarese; Janna Saarela
Scientific Reports, Vol 14, Iss 1, Pp 1-11 (2024)
Academic Journal
Esteller, Diana; Schiava, Marianela; Verdú-Díaz, José; Villar-Quiles, Rocío-Nur; Dibowski, Boris; Venturelli, Nadia; Laforet, Pascal; Alonso-Pérez, Jorge; Olive, Montse; Domínguez-González, Cristina; Paradas, Carmen; Vélez, Beatriz; Kostera-Pruszczyk, Anna; Kierdaszuk, Biruta; Rodolico, Carmelo; Claeys, Kristl; Pál, Endre; Malfatti, Edoardo; Souvannanorath, Sarah; Alonso-Jiménez, Alicia; de Ridder, Willem; De Smet, Eline; Papadimas, George; Papadopoulos, Constantinos; Xirou, Sofia; Luo, Sushan; Muelas, Nuria; Vilchez, Juan J.; Ramos-Fransi, Alba; Monforte, Mauro; Tasca, Giorgio; Udd, Bjarne; Palmio, Johanna; Sri, Srtuhi; Krause, Sabine; Schoser, Benedikt; Fernández-Torrón, Roberto; López de Munain, Adolfo; Pegoraro, Elena; Farrugia, Maria Elena; Vorgerd, Mathias; Manousakis, Georgious; Chanson, Jean Baptiste; Nadaj-Pakleza, Aleksandra; Cetin, Hakan; Badrising, Umesh; Warman-Chardon, Jodi; Bevilacqua, Jorge; Earle, Nicholas; Campero, Mario; Díaz, Jorge; Ikenaga, Chiseko; Lloyd, Thomas E.; Nishino, Ichizo; Nishimori, Yukako; Saito, Yoshihiko; Oya, Yasushi; Takahashi, Yoshiaki; Nishikawa, Atsuko; Sasaki, Ryo; Marini-Bettolo, Chiara; Guglieri, Michela; Straub, Volker; Stojkovic, Tanya; Carlier, Robert Y.; Díaz-Manera, Jordi
Journal of Neurology. 270(12):5849-5865
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