The Nrf2 induction prevents ferroptosis in Friedreich's Ataxia von La Rosa, Piergiorgio, Petrillo, Sara, Turchi, Riccardo, Berardinelli, Francesco, Schirinzi, Tommaso, Vasco, Gessica, Lettieri-Barbato, Daniele, Fiorenza, Maria Teresa, Bertini, Enrico S., Aquilano, Katia, Piemonte, Fiorella

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Consensus Statement for Standard of Care in Spinal Muscular Atrophy von Wang, Ching H., Finkel, Richard S., Bertini, Enrico S., Schroth, Mary, Simonds, Anita, Wong, Brenda, Aloysius, Annie, Morrison, Leslie, Main, Marion, Crawford, Thomas O., Trela, Anthony

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Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy von Kopajtich, Robert, Nicholls, Thomas J., Rorbach, Joanna, Metodiev, Metodi D., Freisinger, Peter, Mandel, Hanna, Vanlander, Arnaud, Ghezzi, Daniele, Carrozzo, Rosalba, Taylor, Robert W., Marquard, Klaus, Murayama, Kei, Wieland, Thomas, Schwarzmayr, Thomas, Mayr, Johannes A., Pearce, Sarah F., Powell, Christopher A., Saada, Ann, Ohtake, Akira, Invernizzi, Federica, Lamantea, Eleonora, Sommerville, Ewen W., Pyle, Angela, Chinnery, Patrick F., Crushell, Ellen, Okazaki, Yasushi, Kohda, Masakazu, Kishita, Yoshihito, Tokuzawa, Yoshimi, Assouline, Zahra, Rio, Marlène, Feillet, François, Mousson de Camaret, Bénédict, Chretien, Dominique, Munnich, Arnold, Menten, Björn, Sante, Tom, Smet, Joél, Régal, Luc, Lorber, Abraham, Khoury, Asaad, Zeviani, Massimo, Strom, Tim M., Meitinger, Thomas, Bertini, Enrico S., Van Coster, Rudy, Klopstock, Thomas, Rötig, Agnès, Haack, Tobias B., Minczuk, Michal, Prokisch, Holger

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Randomized phase 2 trial and open-label extension of domagrozumab in Duchenne muscular dystrophy von Wagner, Kathryn R., Abdel-Hamid, Hoda Z., Mah, Jean K., Campbell, Craig, Guglieri, Michela, Muntoni, Francesco, Takeshima, Yasuhiro, McDonald, Craig M., Kostera-Pruszczyk, Anna, Karachunski, Peter, Butterfield, Russell J., Mercuri, Eugenio, Fiorillo, Chiara, Bertini, Enrico S., Tian, Cuixia, Statland, Jeffery, Sadosky, Alesia B., Purohit, Vivek S., Sherlock, Sarah P., Palmer, Jeffrey P., Binks, Michael, Charnas, Lawrence, Marraffino, Shannon, Wong, Brenda L.

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Nrf2 Induction Re-establishes a Proper Neuronal Differentiation Program in Friedreich's Ataxia Neural Stem Cells von La Rosa, Piergiorgio, Russo, Marta, D'Amico, Jessica, Petrillo, Sara, Aquilano, Katia, Lettieri-Barbato, Daniele, Turchi, Riccardo, Bertini, Enrico S, Piemonte, Fiorella

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Antioxidant Response in Human X-Linked Adrenoleukodystrophy Fibroblasts von Petrillo, Sara, D’Amico, Jessica, Nicita, Francesco, Torda, Caterina, Vasco, Gessica, Bertini, Enrico S., Cappa, Marco, Piemonte, Fiorella

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X-linked disorders with cerebellar dysgenesis von Zanni, Ginevra, Bertini, Enrico S

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Gene therapy for Duchenne Muscular Dystrophy: assessing the readiness of Italian centres of expertise von Pane, Marika, Bertini, Enrico S., Russo, Eleonora, Gatto, Francesca, Di Virgilio, Roberto, Spandonaro, Federico, d’Angela, Daniela, Polistena, Barbara, d’Errico, Margherita

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CAPRIN1P512L causes aberrant protein aggregation and associates with early-onset ataxia von Delle Vedove, Andrea, Natarajan, Janani, Zanni, Ginevra, Eckenweiler, Matthias, Muiños-Bühl, Anixa, Storbeck, Markus, Guillén Boixet, Jordina, Barresi, Sabina, Pizzi, Simone, Hölker, Irmgard, Körber, Friederike, Franzmann, Titus M., Bertini, Enrico S., Kirschner, Janbernd, Alberti, Simon, Tartaglia, Marco, Wirth, Brunhilde

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Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial von Groeneweg, Stefan, Peeters, Robin P, Moran, Carla, Stoupa, Athanasia, Auriol, Françoise, Tonduti, Davide, Dica, Alice, Paone, Laura, Rozenkova, Klara, Malikova, Jana, van der Walt, Adri, de Coo, Irenaeus F M, McGowan, Anne, Lyons, Greta, Aarsen, Femke K, Barca, Diana, van Beynum, Ingrid M, van der Knoop, Marieke M, Jansen, Jurgen, Manshande, Martien, Lunsing, Roelineke J, Nowak, Stan, den Uil, Corstiaan A, Zillikens, M Carola, Visser, Frank E, Vrijmoeth, Paul, de Wit, Marie Claire Y, Wolf, Nicole I, Zandstra, Angelique, Ambegaonkar, Gautam, Singh, Yogen, de Rijke, Yolanda B, Medici, Marco, Bertini, Enrico S, Depoorter, Sylvia, Lebl, Jan, Cappa, Marco, De Meirleir, Linda, Krude, Heiko, Craiu, Dana, Zibordi, Federica, Oliver Petit, Isabelle, Polak, Michel, Chatterjee, Krishna, Visser, Theo J, Visser, W Edward

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Expanding phenotype of FAM111B‐related disease focusing on liver involvement: Literature review, report of a case with end‐stage liver disease and proposal for a new acronym von Macchiaiolo, Marina, Panfili, Filippo M., Vecchio, Davide, Cortellessa, Fabiana, Gonfiantini, Michaela V., Buonuomo, Paola S., Pietrobattista, Andrea, Francalanci, Paola, Travaglini, Lorena, Bertini, Enrico S., El Hachem, Maya, Bartuli, Andrea

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Immune-mediated rippling muscle disease and myasthenia gravis von Bettini, Mariela, Gonorazky, Hernan, Chaves, Marcelo, Fulgenzi, Ernesto, Figueredo, Alejandra, Christiansen, Silvia, Cristiano, Edgardo, Bertini, Enrico S., Rugiero, Marcelo

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Corrigendum to “Randomized phase 2 trial and open-label extension of domagrozumab in Duchenne muscular dystrophy” [Neuromuscular Disorders, Vol. 30 (6) 2020, 492-502] von Wagner, Kathryn R., Abdel-Hamid, Hoda Z., Mah, Jean K., Campbell, Craig, Guglieri, Michela, Muntoni, Francesco, Takeshima, Yasuhiro, McDonald, Craig M., Kostera-Pruszczyk, Anna, Karachunski, Peter, Butterfield, Russell J., Mercuri, Eugenio, Fiorillo, Chiara, Bertini, Enrico S., Tian, Cuixia, Statland, Jeffery, Sadosky, Alesia B., Purohit, Vivek S., Sherlock, Sarah P., Palmer, Jeffrey P., Binks, Michael, Charnas, Lawrence, Marraffino, Shannon, Wong, Brenda L.

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Therapeutic Role of Nusinersen on Respiratory Progression in Pediatric Patients With Spinal Muscular Atrophy Type 2 and Nonambulant Type 3 von Trucco, Federica, Ridout, Deborah, Weststrate, Harriet, Scoto, Mariacristina, Rohwer, Annemarie, Coratti, Giorgia, Main, Marion L, Mayhew, Anna G, Montes, Jacqueline, De Sanctis, Roberto, Pane, Marika, Pera, Maria Carmela, Sansone, Valeria A, Albamonte, Emilio, D'Amico, Adele, Bruno, Claudio, Messina, Sonia S, Childs, Anne-Marie, Willis, Tracey, Ong, Min T, Servais, Laurent, Majumdar, Anirban, Hughes, Imelda, Marini-Bettolo, Chiara, Parasuraman, Deepak, Gowda, Vasantha L, Baranello, Giovanni, Bertini, Enrico S, De Vivo, Darryl C, Darras, Basil T, Day, John W, Mayer, Oscar, Zolkipli-Cunningham, Zarazuela, Finkel, Richard S, Mercuri, Eugenio, Muntoni, Francesco

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LBSL: Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations von Stellingwerff, Menno D., Figuccia, Sonia, Bellacchio, Emanuele, Alvarez, Karin, Castiglioni, Claudia, Topaloglu, Pinar, Stutterd, Chloe A., Erasmus, Corrie E., Sanchez‐Valle, Amarilis, Lebon, Sebastien, Hughes, Sarah, Schmitt-Mechelke, Thomas, Vasco, Gessica, Chow, Gabriel, Rahikkala, Elisa, Dallabona, Cristina, Okuma, Cecilia, Aiello, Chiara, Goffrini, Paola, Abbink, Truus E.M., Bertini, Enrico S., Van der Knaap, Marjo S.

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Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis von Aiello, Chiara, Terracciano, Alessandra, Simonati, Alessandro, Discepoli, Giancarlo, Cannelli, Natalia, Claps, Dianela, Crow, Yanick J, Bianchi, Marzia, Kitzmuller, Claudia, Longo, Daniela, Tavoni, Antonietta, Franzoni, Emilio, Tessa, Alessandra, Veneselli, Edwige, Boldrini, Renata, Filocamo, Mirella, Williams, Ruth E, Bertini, Enrico S, Biancheri, Roberta, Carrozzo, Rosalba, Mole, Sara E, Santorelli, Filippo M

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Clinical and molecular study in a family with cleidocranial dysplasia von Callea, Michele, Fattori, Fabiana, Bertini, Enrico S, Yavuz, Izzet, Bellacchio, Emanuele, Avendaño, Andrea, Araque, Dianora, Lacruz-Rengel, María A, Da Silva, Gloria, Cammarata-Scalisi, Francisco

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Bi-allelic variants in INTS11 are associated with a complex neurological disorder von Tepe, Burak, Cogne, Benjamin, Neil, Jennifer E., Walsh, Christopher A., Magal, Nurit, Drasinover, Valerie, Schwab, Tanya, Schmitz, Chris, Clark, Karl, Blanc, Pierre, Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bayrak-Toydemir, Pinar, Beck, Anita, Behrens, Edward, Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Boyd, Brenna, Briere, Lauren C., Brown, Gabrielle, Byers, Peter, Byrd, William E., Carey, John, Clark, Gary D., Coakley, Terra R., Colley, Heather A., Craigen, William J., Cunningham, Michael, Dasari, Surendra, Dayal, Jyoti G., Deardorff, Matthew, Dipple, Katrina, Doherty, Daniel, Doss, Argenia L., Emrick, Lisa T., Fernandez, Liliana, Forghani, Irman, Glass, Ian, Gochuico, Bernadette, Golden-Grant, Katie, Goldrich, Madison P., Gutierrez, Irma, Hamid, Rizwan, Hayes, Nichole, Hom, Jason, Horike-Pyne, Martha, Isasi, Rosario, Jarvik, Jeffrey, Jobanputra, Vaidehi, Karaviti, Lefkothea, Kiley, Dana, Kobren, Shilpa N., Krasnewich, Donna M., LeBlanc, Kimberly, Levitt, Roy, Mahoney, Rachel, Malicdan, May Christine V., Mamounas, Laura A., Mao, Rong, Maravilla, Kenneth, Marom, Ronit, Martin, Martin G., Martínez-Agosto, Julian A., Merritt, J. Lawrence, Morava, Eva, Newman, John H., Nickerson, Deborah, Novacic, Donna, Oglesbee, Devin, Pace, Laura, Palmer, Christina GS, Papp, Jeanette C., Rao, Deepak A., Renteria, Genecee, Reuter, Chloe M., Robertson, Amy K., Rosenfeld, Jill A., Rossignol, Francis, Ruzhnikov, Maura, Scott, C. Ron, Shin, Jimann, Sinsheimer, Janet S., Sullivan, Jennifer A., Sun, Angela, Tabor, Holly K., Telischi, Fred, Toro, Camilo, Tucker, Brianna M., Urv, Tiina K., Vogel, Tiphanie P., Walker, Melissa, Wangler, Michael F., Perry, Katherine Wesseling, Westerfield, Monte, Wolfe, Lynne A., Worley, Kim, Xiao, Changrui, Zuchner, Stephan

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Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study von Groeneweg, Stefan, van Geest, Ferdy S, Abacı, Ayhan, Alcantud, Alberto, Ambegaonkar, Gautam P, Armour, Christine M, Bakhtiani, Priyanka, Barca, Diana, Bertini, Enrico S, van Beynum, Ingrid M, Brunetti-Pierri, Nicola, Bugiani, Marianna, Cappa, Marco, Cappuccio, Gerarda, Castellotti, Barbara, Castiglioni, Claudia, Chatterjee, Krishna, de Coo, Irenaeus F M, Coutant, Régis, Craiu, Dana, Crock, Patricia, DeGoede, Christian, Demir, Korcan, Dica, Alice, Dimitri, Paul, Dolcetta-Capuzzo, Anna, Dremmen, Marjolein H G, Dubey, Rachana, Enderli, Anina, Fairchild, Jan, Gallichan, Jonathan, George, Belinda, Gevers, Evelien F, Hackenberg, Annette, Halász, Zita, Heinrich, Bianka, Huynh, Tony, Kłosowska, Anna, van der Knaap, Marjo S, van der Knoop, Marieke M, Konrad, Daniel, Koolen, David A, Krude, Heiko, Lawson-Yuen, Amy, Lebl, Jan, Linder-Lucht, Michaela, Lorea, Cláudia F, Lourenço, Charles M, Lunsing, Roelineke J, Lyons, Greta, Malikova, Jana, Mancilla, Edna E, McGowan, Anne, Mericq, Veronica, Lora, Felipe M, Moran, Carla, Müller, Katalin E, Oliver-Petit, Isabelle, Paone, Laura, Paul, Praveen G, Polak, Michel, Porta, Francesco, Poswar, Fabiano O, Reinauer, Christina, Rozenkova, Klara, Menevse, Tuba S, Simm, Peter, Simon, Anna, Singh, Yogen, Spada, Marco, van der Spek, Jet, Stals, Milou A M, Stoupa, Athanasia, Subramanian, Gopinath M, Tonduti, Davide, Turan, Serap, den Uil, Corstiaan A, Vanderniet, Joel, van der Walt, Adri, Wémeau, Jean-Louis, Wierzba, Jolante, de Wit, Marie-Claire Y, Wolf, Nicole I, Wurm, Michael, Zibordi, Federica, Zung, Amnon, Zwaveling-Soonawala, Nitash, Visser, W Edward

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Congenital myopathies: clinical phenotypes and new diagnostic tools von Cassandrini, Denise, Trovato, Rosanna, Rubegni, Anna, Lenzi, Sara, Fiorillo, Chiara, Baldacci, Jacopo, Minetti, Carlo, Astrea, Guja, Bruno, Claudio, Santorelli, Filippo M

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