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SavePhenotype-Genotype Correlations in Early-Onset Myelin Protein Zero-Related Neuropathies
Laurini, Christian; Danti, Federica Rachele; Russo, Massimo; Tozza, Stefano; Massucco, Sara; Bertini, Alessandro; Pisciotta, Chiara; D'Arma, Federica; Gentile, Luca; Falzone, Yuri Matteo; Ratti, Adele; Catteruccia, Michela; Fiorillo, Chiara; Cicala, Gianpaolo; Luigetti, Marco; Magri, Stefania; Bellone, Emilia; Fabrizi, Gian Maria; Manganelli, Fiore; Grandis, Marina; Mazzeo, Anna; Pareyson, Davide; Moroni, Isabella; Previtali, Stefano Carlo Share Save Share Save Muscle Proteome Analysis of Facioscapulohumeral Dystrophy Patients Reveals a Metabolic Rewiring Promoting Oxidative/Reductive Stress Contributing to the Loss of Muscle FunctionMoriggi, Manuela; Ruggiero, Lucia; Torretta, Enrica; Zoppi, Dario; Arosio, Beatrice; Ferri, Evelyn; Castegna, Alessandra; Fiorillo, Chiara; Gelfi, Cecilia; Capitanio, Daniele Share Save Association between Reported Sleep Disorders and Behavioral Issues in Children with Myotonic Dystrophy Type 1-Results from a Retrospective Analysis in ItalyTrucco, Federica; Lizio, Andrea; Roma, Elisabetta; di Bari, Alessandra; Salmin, Francesca; Albamonte, Emilio; Casiraghi, Jacopo; Pozzi, Susanna; Becchiati, Stefano; Antonaci, Laura; Salvalaggio, Anna; Catteruccia, Michela; Tosi, Michele; Marinella, Gemma; Danti, Federica R.; Bruschi, Fabio; Veneruso, Marco; Parravicini, Stefano; Fiorillo, Chiara; Berardinelli, Angela; Pini, Antonella; Moroni, Isabella; Astrea, Guja; Battini, Roberta; D'Amico, Adele; Ricci, Federica; Pane, Marika; Mercuri, Eugenio M.; Johnson, Nicholas E.; Sansone, Valeria A. Share Save Parental diagnostic delay and developmental outcomes in congenital and childhood-onset myotonic dystrophy type 1Trucco, Federica; Albamonte, Emilio; Pane, Marika; Ricci, Federica; D'amico, Adele; Astrea, Guja; Moroni, Isabella; Pini, Antonella; Fiorillo, Chiara; Berardinelli, Angela; Johnson, Nicholas E.; Sansone, Valeria A. Share Save Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis AchievementGeroldi, Alessandro; Ponti, Clarissa; Mammi, Alessia; Patrone, Serena; Gotta, Fabio; Trevisan, Lucia; Sanguineri, Francesca; Origone, Paola; Gaudio, Andrea; La Barbera, Andrea; Cataldi, Matteo; Gemelli, Chiara; Massucco, Sara; Schenone, Angelo; Lanteri, Paola; Fiorillo, Chiara; Grandis, Marina; Mandich, Paola; Bellone, Emilia Share Save Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disordersIacomino, Michele; Houerbi, Nadia; Fortuna, Sara; Howe, Jennifer; Li, Shan; Scorrano, Giovanna; Riva, Antonella; Cheng, Kai-Wen; Steiman, Mandy; Peltekova, Iskra; Yusuf, Afiqah; Baldassari, Simona; Tamburro, Serena; Scudieri, Paolo; Musante, Ilaria; Di Ludovico, Armando; Guerrisi, Sara; Balagura, Ganna; Corsello, Antonio; Efthymiou, Stephanie; Murphy, David; Uva, Paolo; Verrotti, Alberto; Fiorillo, Chiara; Delvecchio, Maurizio; Accogli, Andrea; Elsabbagh, Mayada; Houlden, Henry; Scherer, Stephen W.; Striano, Pasquale; Zara, Federico; Chou, Tsui-Fen; Salpietro, Vincenzo Share Save Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiationAccogli, Andrea; Shakya, Saurabh; Yang, Taewoo; Insinna, Christine; Kim, Soo Yeon; Bell, David; Butov, Kirill R.; Severino, Mariasavina; Niceta, Marcello; Scala, Marcello; Lee, Hyun Sik; Yoo, Taekyeong; Stauffer, Jimmy; Zhao, Huijie; Fiorillo, Chiara; Pedemonte, Marina; Diana, Maria C.; Baldassari, Simona; Zakharova, Viktoria; Shcherbina, Anna; Rodina, Yulia; Fagerberg, Christina; Roos, Laura Sonderberg; Wierzba, Jolanta; Dobosz, Artur; Gerard, Amanda; Potocki, Lorraine; Rosenfeld, Jill A.; Lalani, Seema R.; Scott, Tiana M.; Scott, Daryl; Azamian, Mahshid S.; Louie, Raymond; Moore, Hannah W.; Champaigne, Neena L.; Hollingsworth, Grace; Torella, Annalaura; Nigro, Vincenzo; Ploski, Rafal; Salpietro, Vincenzo; Zara, Federico; Pizzi, Simone; Chillemi, Giovanni; Ognibene, Marzia; Cooney, Erin; Do, Jenny; Linnemann, Anders; Larsen, Martin J.; Specht, Suzanne; Walters, Kylie J.; Choi, Hee-Jung; Choi, Murim; Tartaglia, Marco; Youkharibache, Phillippe; Chae, Jong-Hee; Capra, Valeria; Park, Sung-Gyoo; Westlake, Christopher J. Share Save DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemiaTraverso, Monica; Baratto, Serena; Iacomino, Michele; Di Duca, Marco; Panicucci, Chiara; Casalini, Sara; Grandis, Marina; Falace, Antonio; Torella, Annalaura; Picillo, Esther; Onore, Maria Elena; Politano, Luisa; Nigro, Vincenzo; Innes, A. Micheil; Barresi, Rita; Bruno, Claudio; Zara, Federico; Fiorillo, Chiara; Scala, Marcello Share Save A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibersGeroldi, Alessandro; Tozza, Stefano; Fiorillo, Chiara; Nolano, Maria; Fossa, Paola; Vitale, Floriana; Domi, Regi; Gaudio, Andrea; Mammi, Alessia; Patrone, Serena; La Barbera, Andrea; Origone, Paola; Ponti, Clarissa; Sanguineri, Francesca; Zara, Federico; Cataldi, Matteo; Salpietro, Vincenzo; Venturi, Consuelo Barbara; Massucco, Sara; Schenone, Angelo; Manganelli, Fiore; Mandich, Paola; Bellone, Emilia; Gotta, Fabio Share Save Myopathologic trajectory in Duchenne muscular dystrophy (DMD) reveals lack of regeneration due to senescence in satellite cellsCardone, Nastasia; Taglietti, Valentina; Baratto, Serena; Kefi, Kaouthar; Periou, Baptiste; Gitiaux, Ciryl; Barnerias, Christine; Lafuste, Peggy; Pharm, France Leturcq; Pharm, Juliette Nectoux; Panicucci, Chiara; Desguerre, Isabelle; Bruno, Claudio; Authier, Francois-Jerome; Fiorillo, Chiara; Relaix, Frederic; Malfatti, Edoardo Share Save Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variantCardone, Nastasia; Moula, Melissa; Baelde, Rianne J.; Biquand, Ariane; Villanova, Marcello; Metay, Corinne; Fiorillo, Chiara; Baratto, Serena; Merlini, Luciano; Sabatelli, Patrizia; Romero, Norma B.; Relaix, Frederic; Authier, Francois Jerome; Taglietti, Valentina; Savarese, Marco; de Winter, Josine; Ottenheijm, Coen; Richard, Isabelle; Malfatti, Edoardo Share Save Thyroid-stimulating hormone receptor signaling restores skeletal muscle stem cell regeneration in rats with muscular dystrophyTaglietti, Valentina; Kefi, Kaouthar; Rivera, Lea; Bergiers, Oriane; Cardone, Nastasia; Coulpier, Fanny; Gioftsidi, Stamatia; Drayton-Libotte, Bernadette; Hou, Cyrielle; Authier, Francois-JeromE; Pietri-Rouxel, France; Robert, Matthieu; Bremond-Gignac, Dominique; Bruno, Claudio; Fiorillo, Chiara; Malfatti, Edoardo; Lafuste, Peggy; Tiret, Laurent; Relaix, Frederic Share Save NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathyRanu, Natasha; Laitila, Jenni; Dugdale, Hannah F.; Mariano, Jennifer; Kolb, Justin S.; Wallgren-Pettersson, Carina; Witting, Nanna; Vissing, John; Vilchez, Juan Jesus; Fiorillo, Chiara; Zanoteli, Edmar; Auranen, Mari; Jokela, Manu; Tasca, Giorgio; Claeys, Kristl G.; Voermans, Nicol C.; Palmio, Johanna; Huovinen, Sanna; Moggio, Maurizio; Beck, Thomas Nyegaard; Kontrogianni-Konstantopoulos, Aikaterini; Granzier, Henk; Ochala, Julien Share Save Pediatric SARS-CoV-2-Related Diplopia and Mesencephalic AbnormalitiesSigna, Sara; Brolatti, Noemi; Trincianti, Chiara; Tortora, Domenico; Saffioti, Carolina; Di Marco, Eddi; Acquila, Maura; Amadori, Elisabetta; Fiorillo, Chiara; Ricci, Erica; Striano, Pasquale; Castagnola, Elio; Vari, Maria Stella Share Save The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatmentFiorillo, Chiara; Capodivento, Giovanna; Geroldi, Alessandro; Tozza, Stefano; Moroni, Isabella; Mohassel, Payam; Cataldi, Matteo; Campana, Chiara; Morando, Simone; Panicucci, Chiara; Pedemonte, Marina; Brolatti, Noemi; Siliquini, Sabrina; Traverso, Monica; Baratto, Serena; Debellis, Doriana; Magri, Stefania; Prada, Valeria; Bellone, Emilia; Salpietro, Vincenzo; Donkervoort, Sandra; Gable, Kenneth; Gupta, Sita D.; Dunn, Teresa M.; Bonnemann, Carsten G.; Taroni, Franco; Bruno, Claudio; Schenone, Angelo; Mandich, Paola; Nobbio, Lucilla; Nolano, Maria Share Save 
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