"Malfatti, Edoardo" - Selaus tekijän mukaan TUNICRIS-julkaisut

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    • Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis 

      Esteller, Diana; Schiava, Marianela; 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; Schöser, 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 (12 / 2023)
      article
      Background: The diagnosis of patients with mutations in the VCP gene can be complicated due to their broad phenotypic spectrum including myopathy, motor neuron disease and peripheral neuropathy. Muscle MRI guides the ...

    • Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy 

      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 (03 / 2024)
      article
      In digenic inheritance, pathogenic variants in two genes must be inherited together to cause disease. Only very few examples of digenic inheritance have been described in the neuromuscular disease field. Here we show that ...

    • Inferring disease course from differential exon usage in the wide titinopathy spectrum 

      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 (2024)
      article
      Objective: Biallelic titin truncating variants (TTNtv) have been associated with a wide phenotypic spectrum, ranging from complex prenatal muscle diseases with dysmorphic features to adult-onset limb-girdle muscular ...