Redox homeostasis and inflammation in fibroblasts of patients with Friedreich Ataxia: a possible cross talk by Andrea Quatrana, Sara Petrillo, Caterina Torda, Eleonora De Santis, Enrico Bertini, Fiorella Piemonte

Get full text

Altered cytoskeleton dynamics in patient-derived iPSC-based model of PCDH19 clustering epilepsy by Rossella Borghi, Stefania Petrini, Valentina Apollonio, Marina Trivisano, Nicola Specchio, Sandra Moreno, Enrico Bertini, Marco Tartaglia, Claudia Compagnucci

Get full text

Nusinersen corrects L-arginine deficiency in the cerebrospinal fluid of patients with severe spinal muscular atrophy by Amber Hassan, Raffaella di Vito, Anna Caretto, Tommaso Nuzzo, Adele D'Amico, Chiara Panicucci, Claudio Bruno, Enrico Bertini, Alessandro Vercelli, Marina Boido, Francesco Errico, Livio Pellizzoni, Alessandro Usiello

Get full text

APOPT1/COA8 assists COX assembly and is oppositely regulated by UPS and ROS by Alba Signes, Raffaele Cerutti, Anna S Dickson, Cristiane Benincá, Elizabeth C Hinchy, Daniele Ghezzi, Rosalba Carrozzo, Enrico Bertini, Michael P Murphy, James A Nathan, Carlo Viscomi, Erika Fernandez‐Vizarra, Massimo Zeviani

Get full text

Observations from a nationwide vigilance program in medical care for spinal muscular atrophy patients in Chile by Karin ALVAREZ, Bernardita SUAREZ, María Angélica PALOMINO, Cecilia HERVIAS, Giancarlo CALCAGNO, Maripaz MARTÍNEZ-JALILIE, Andrés LOZANO-ARANGO, Susana LILLO, Mariana HARO, Fanny CORTÉS, Samuel PANTOJA, Andrés CHAHIN, Paulina ORELLANA, Jorge A BEVILACQUA, Enrico BERTINI, Claudia CASTIGLIONI

Get full text

Dysregulated balance of D- and L-amino acids modulating glutamatergic neurotransmission in severe spinal muscular atrophy by Amber Hassan, Raffaella di Vito, Tommaso Nuzzo, Matteo Vidali, Maria Jose Carlini, Shubhi Yadav, Hua Yang, Adele D'Amico, Xhesika Kolici, Valeria Valsecchi, Chiara Panicucci, Giuseppe Pignataro, Claudio Bruno, Enrico Bertini, Francesco Errico, Livio Pellizzoni, Alessandro Usiello

Get full text

TREAT: systematic and inclusive selection process of genes for genomic newborn screening as part of the Screen4Care project by Christina Saier, Stefaan Sansen, Joanne Berghout, Kathrin Freyler, Moshe Einhorn, Yaron Einhorn, Leslie Matalonga, Sergi Beltran, Antonio Novelli, Rita Selvatici, Fernanda Fortunato, Silvia Montanari, Maria Martinez-Fresno, Gulcin Gumus, Emanuele Agolini, Nicolas Garnier, Alessandra Ferlini, Enrico Bertini, Janbernd Kirschner

Get full text

Myostatin Levels in SMA Following Disease‐Modifying Treatments: A Multi‐Center Study by Fiorella Piemonte, Sara Petrillo, Anna Capasso, Giorgia Coratti, Adele D'Amico, Michela Catteruccia, Maria Carmela Pera, Concetta Palermo, Marika Pane, Emanuela Abiusi, Gianpaolo Cicala, Marianna Villa, Chiara Bravetti, Chiara Arpaia, Agnese Novelli, Salvatore Falqui, Stefania Fiori, Giulia Napoli, Silvia Baroni, Francesco Danilo Tiziano, Enrico Bertini, Giacomo Comi, Stefania Corti, Eugenio Mercuri

Get full text

24 month longitudinal data in ambulant boys with Duchenne muscular dystrophy. by Elena Stacy Mazzone, Marika Pane, Maria Pia Sormani, Roberta Scalise, Angela Berardinelli, Sonia Messina, Yvan Torrente, Adele D'Amico, Luca Doglio, Emanuela Viggiano, Paola D'Ambrosio, Filippo Cavallaro, Silvia Frosini, Luca Bello, Serena Bonfiglio, Roberto De Sanctis, Enrica Rolle, Flaviana Bianco, Francesca Magri, Francesca Rossi, Gessica Vasco, Gianluca Vita, Maria Chiara Motta, Maria Alice Donati, Michele Sacchini, Tiziana Mongini, Antonella Pini, Roberta Battini, Elena Pegoraro, Stefano Previtali, Sara Napolitano, Claudio Bruno, Luisa Politano, Giacomo Pietro Comi, Enrico Bertini, Eugenio Mercuri

Get full text

Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial by Amel Karaa, Enrico Bertini, Valerio Carelli, Bruce Cohen, Gregory M. Ennes, Marni J. Falk, Amy Goldstein, Gráinne Gorman, Richard Haas, Michio Hirano, Thomas Klopstock, Mary Kay Koenig, Cornelia Kornblum, Costanza Lamperti, Anna Lehman, Nicola Longo, Maria Judit Molnar, Sumit Parikh, Han Phan, Robert D. S. Pitceathly, Russekk Saneto, Fernando Scaglia, Serenella Servidei, Mark Tarnopolsky, Antonio Toscano, Johan L. K. Van Hove, John Vissing, Jerry Vockley, Jeffrey S. Finman, Anthony Abbruscato, David A. Brown, Alana Sullivan, James A. Shiffer, Michelango Mancuso, on behalf of the MMPOWER-3 Trial Investigators

Get full text

Long term natural history data in ambulant boys with Duchenne muscular dystrophy: 36-month changes. by Marika Pane, Elena Stacy Mazzone, Serena Sivo, Maria Pia Sormani, Sonia Messina, Adele D'Amico, Adelina Carlesi, Gianluca Vita, Lavinia Fanelli, Angela Berardinelli, Yvan Torrente, Valentina Lanzillotta, Emanuela Viggiano, Paola D Ambrosio, Filippo Cavallaro, Silvia Frosini, Andrea Barp, Serena Bonfiglio, Roberta Scalise, Roberto De Sanctis, Enrica Rolle, Alessandra Graziano, Francesca Magri, Concetta Palermo, Francesca Rossi, Maria Alice Donati, Michele Sacchini, Maria Teresa Arnoldi, Giovanni Baranello, Tiziana Mongini, Antonella Pini, Roberta Battini, Elena Pegoraro, Stefano Previtali, Claudio Bruno, Luisa Politano, Giacomo P Comi, Enrico Bertini, Eugenio Mercuri

Get full text

Upper limb function in Duchenne muscular dystrophy: 24 month longitudinal data. by Marika Pane, Giorgia Coratti, Claudia Brogna, Elena Stacy Mazzone, Anna Mayhew, Lavinia Fanelli, Sonia Messina, Adele D'Amico, Michela Catteruccia, Marianna Scutifero, Silvia Frosini, Valentina Lanzillotta, Giulia Colia, Filippo Cavallaro, Enrica Rolle, Roberto De Sanctis, Nicola Forcina, Roberta Petillo, Andrea Barp, Alice Gardani, Antonella Pini, Giulia Monaco, Maria Grazia D'Angelo, Riccardo Zanin, Gian Luca Vita, Claudio Bruno, Tiziana Mongini, Federica Ricci, Elena Pegoraro, Luca Bello, Angela Berardinelli, Roberta Battini, Valeria Sansone, Emilio Albamonte, Giovanni Baranello, Enrico Bertini, Luisa Politano, Maria Pia Sormani, Eugenio Mercuri

Get full text

6 Minute walk test in Duchenne MD patients with different mutations: 12 month changes. by Marika Pane, Elena S Mazzone, Maria Pia Sormani, Sonia Messina, Gian Luca Vita, Lavinia Fanelli, Angela Berardinelli, Yvan Torrente, Adele D'Amico, Valentina Lanzillotta, Emanuela Viggiano, Paola D'Ambrosio, Filippo Cavallaro, Silvia Frosini, Luca Bello, Serena Bonfiglio, Roberta Scalise, Roberto De Sanctis, Enrica Rolle, Flaviana Bianco, Marlene Van der Haawue, Francesca Magri, Concetta Palermo, Francesca Rossi, Maria Alice Donati, Chiara Alfonsi, Michele Sacchini, Maria Teresa Arnoldi, Giovanni Baranello, Tiziana Mongini, Antonella Pini, Roberta Battini, Elena Pegoraro, Stefano C Previtali, Sara Napolitano, Claudio Bruno, Luisa Politano, Giacomo P Comi, Enrico Bertini, Lucia Morandi, Francesca Gualandi, Alessandra Ferlini, Nathalie Goemans, Eugenio Mercuri

Get full text

Type I spinal muscular atrophy and disease modifying treatments: a nationwide study in children born since 2016Research in context by Maria Carmela Pera, Giorgia Coratti, Marika Pane, Riccardo Masson, Valeria Ada Sansone, Adele D’Amico, Michela Catteruccia, Caterina Agosto, Antonio Varone, Claudio Bruno, Sonia Messina, Federica Ricci, Irene Bruno, Elena Procopio, Antonella Pini, Sabrina Siliquini, Riccardo Zanin, Emilio Albamonte, Angela Berardinelli, Chiara Mastella, Giovanni Baranello, Stefano Carlo Previtali, Antonio Trabacca, Chiara Bravetti, Delio Gagliardi, Massimiliano Filosto, Roberto de Sanctis, Richard Finkel, Eugenio Mercuri, Alice Gardani, Maria Antonella Costantino, Ilaria Bitetti, Matteo Tuana Franguel, Maria Sframeli, Andrea Magnolato, Myriam Rausa, Elena Pagliaccia, Mirea Negri, Cesare Del Monaco, Beatrice Berti, Daniela Leone, Concetta Palermo, Enrico Bertini, Antonella Longo, Claudia Dosi, Sara Carnicella, Simone Morando, Noemi Brolatti, Alessandra Vento, Ilaria Cavallina, Roberta Ferrante, Laura Bernasconi, Marco Piastra, Orazio Genovese, Nicola Forcina, Francesca Benedetti, Simona Damioli, Lavinia Fanelli, Giulia Stanca, Giulia Norcia, Matteo Sacchini, Chiara Ticci, Elena Briganti

Get full text

Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration by Stefan Groeneweg, Ferdy S. van Geest, Mariano Martín, Mafalda Dias, Jonathan Frazer, Carolina Medina-Gomez, Rosalie B. T. M. Sterenborg, Hao Wang, Anna Dolcetta-Capuzzo, Linda J. de Rooij, Alexander Teumer, Ayhan Abaci, Erica L. T. van den Akker, Gautam P. Ambegaonkar, Christine M. Armour, Iiuliu Bacos, Priyanka Bakhtiani, Diana Barca, Andrew J. Bauer, Sjoerd A. A. van den Berg, Amanda van den Berge, Enrico Bertini, Ingrid M. van Beynum, Nicola Brunetti-Pierri, Doris Brunner, Marco Cappa, Gerarda Cappuccio, Barbara Castellotti, Claudia Castiglioni, Krishna Chatterjee, Alexander Chesover, Peter Christian, Jet Coenen-van der Spek, Irenaeus F. M. de Coo, Regis Coutant, Dana Craiu, Patricia Crock, Christian DeGoede, Korcan Demir, Cheyenne Dewey, Alice Dica, Paul Dimitri, Marjolein H. G. Dremmen, Rachana Dubey, Anina Enderli, Jan Fairchild, Jonathan Gallichan, Luigi Garibaldi, Belinda George, Evelien F. Gevers, Erin Greenup, Annette Hackenberg, Zita Halász, Bianka Heinrich, Anna C. Hurst, Tony Huynh, Amber R. Isaza, Anna Klosowska, Marieke M. van der Knoop, Daniel Konrad, David A. Koolen, Heiko Krude, Abhishek Kulkarni, Alexander Laemmle, Stephen H. LaFranchi, Amy Lawson-Yuen, Jan Lebl, Selmar Leeuwenburgh, Michaela Linder-Lucht, Anna López Martí, Cláudia F. Lorea, Charles M. Lourenço, Roelineke J. Lunsing, Greta Lyons, Jana Krenek Malikova, Edna E. Mancilla, Kenneth L. McCormick, Anne McGowan, Veronica Mericq, Felipe Monti Lora, Carla Moran, Katalin E. Muller, Lindsey E. Nicol, Isabelle Oliver-Petit, Laura Paone, Praveen G. Paul, Michel Polak, Francesco Porta, Fabiano O. Poswar, Christina Reinauer, Klara Rozenkova, Rowen Seckold, Tuba Seven Menevse, Peter Simm, Anna Simon, Yogen Singh, Marco Spada, Milou A. M. Stals, Merel T. Stegenga, Athanasia Stoupa, Gopinath M. Subramanian, Lilla Szeifert, Davide Tonduti, Serap Turan, Joel Vanderniet, Adri van der Walt, Jean-Louis Wémeau, Anne-Marie van Wermeskerken, Jolanta Wierzba, Marie-Claire Y. de Wit, Nicole I. Wolf, Michael Wurm, Federica Zibordi, Amnon Zung, Nitash Zwaveling-Soonawala, Fernando Rivadeneira, Marcel E. Meima, Debora S. Marks, Juan P. Nicola, Chi-Hua Chen, Marco Medici, W. Edward Visser

Get full text