Enrico Silvio Bertini (Audrey Schalk, Enrico Bertini, E Bertini, Enrico S Bertini)

ResearcherID Loop profile Scopus Author ID Scopus Author ID Scopus Author ID Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 68

Top Topics

Duchenne Muscular Dystrophy

Top Venues

International journal of molecular sciences

medRxiv : the preprint server for health sciences

This page only lists publications with an associated author ORCID identifier.

Publications

Beatrice Berti, Daniela Verrigni, Alessia Nasca, Michela Di Nottia, Daniela Leone, Alessandra Torraco, Teresa Rizza, Emanuele Bellacchio, Andrea Legati, Concetta Palermo, Silvia Marchet, Costanza Lamperti, Antonio Novelli, Eugenio Maria Mercuri, Enrico Silvio Bertini, Marika Pane, Daniele Ghezzi, Rosalba Carrozzo
De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting. International journal of molecular sciences 25 (14) (2024)
Jacopo Sartorelli, Lorena Travaglini, Marina Macchiaiolo, Giacomo Garone, Michaela Veronika Gonfiantini, Davide Vecchio, Lorenzo Sinibaldi, Flaminia Frascarelli, Viola Ceccatelli, Sara Petrillo, Fiorella Piemonte, Gabriele Piccolo, Antonio Novelli, Daniela Longo, Stefano Pro, Adele D'Amico, Enrico Silvio Bertini, Francesco Nicita
Spectrum of ERCC6 -Related Cockayne Syndrome (Type B): From Mild to Severe Forms. Genes 15 (4) (2024)
Jacopo Sartorelli, Lorena Travaglini, Marina Macchiaiolo, Giacomo Garone, Michaela Veronika Gonfiantini, Davide Vecchio, Lorenzo Sinibaldi, Flaminia Frascarelli, Viola Ceccatelli, Sara Petrillo, Fiorella Piemonte, Gabriele Piccolo, Antonio Novelli, Daniela Longo, Stefano Pro, Adele D'Amico, Enrico Silvio Bertini, Francesco Nicita
Spectrum of ERCC6 -Related Cockayne Syndrome (Type B): From Mild to Severe Forms. Genes 15 (4) (2024)
Federica Trucco, Deborah Ridout, Harriet Weststrate, Mariacristina Scoto, Annemarie Rohwer, Giorgia Coratti, Marion L Main, Anna G Mayhew, Jacqueline Montes, Roberto De Sanctis, Marika Pane, Maria Carmela Pera, Valeria A Sansone, Emilio Albamonte, Adele D'Amico, Claudio Bruno, Sonia S Messina, Anne-Marie Childs, Tracey Willis, Min T Ong, Laurent Servais, Anirban Majumdar, Imelda Hughes, Chiara Marini-Bettolo, Deepak Parasuraman, Vasantha Lakshmi Gowda, Giovanni Baranello, Enrico Silvio Bertini, Darryl C De Vivo, Basil T Darras, John W Day, Oscar H Mayer, Zarazuela Zolkipli-Cunningham, Richard S Finkel, Eugenio Mercuri, Francesco Muntoni, null null
Therapeutic Role of Nusinersen on Respiratory Progression in Pediatric Patients With Spinal Muscular Atrophy Type 2 and Nonambulant Type 3. Neurology. Clinical practice 14 (3) (2024)
Jacopo Sartorelli, Lorena Travaglini, Marina Macchiaiolo, Giacomo Garone, Michaela Veronika Gonfiantini, Davide Vecchio, Lorenzo Sinibaldi, Flaminia Frascarelli, Viola Ceccatelli, Sara Petrillo, Fiorella Piemonte, Gabriele Piccolo, Antonio Novelli, Daniela Longo, Stefano Pro, Adele D'Amico, Enrico Silvio Bertini, Francesco Nicita
Spectrum of ERCC6 -Related Cockayne Syndrome (Type B): From Mild to Severe Forms. Genes 15 (4) (2024)
Jacopo Sartorelli, Lorena Travaglini, Marina Macchiaiolo, Giacomo Garone, Michaela Veronika Gonfiantini, Davide Vecchio, Lorenzo Sinibaldi, Flaminia Frascarelli, Viola Ceccatelli, Sara Petrillo, Fiorella Piemonte, Gabriele Piccolo, Antonio Novelli, Daniela Longo, Stefano Pro, Adele D'Amico, Enrico Silvio Bertini, Francesco Nicita
Spectrum of ERCC6 -Related Cockayne Syndrome (Type B): From Mild to Severe Forms. Genes 15 (4) (2024)
Beatrice Berti, Daniela Verrigni, Alessia Nasca, Michela Di Nottia, Daniela Leone, Alessandra Torraco, Teresa Rizza, Emanuele Bellacchio, Andrea Legati, Concetta Palermo, Silvia Marchet, Costanza Lamperti, Antonio Novelli, Eugenio Maria Mercuri, Enrico Silvio Bertini, Marika Pane, Daniele Ghezzi, Rosalba Carrozzo
De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting. International journal of molecular sciences 25 (14) (2024)
Beatrice Berti, Daniela Verrigni, Alessia Nasca, Michela Di Nottia, Daniela Leone, Alessandra Torraco, Teresa Rizza, Emanuele Bellacchio, Andrea Legati, Concetta Palermo, Silvia Marchet, Costanza Lamperti, Antonio Novelli, Eugenio Maria Mercuri, Enrico Silvio Bertini, Marika Pane, Daniele Ghezzi, Rosalba Carrozzo
De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting. International journal of molecular sciences 25 (14) (2024)
A Reghan Foley, Veronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Rotem Orbach, Riley M McCarty, Apurva Sarathy, Gina Norato, Beryl B Cummings, Monkol Lek, Anna Sarkozy, Russell J Butterfield, Janbernd Kirschner, Andrés Nascimento, Daniel Natera-de Benito, Susana Quijano-Roy, Kristl G Claeys, Luciano Merlini, Giacomo Pietro Comi, Monique Ryan, Denise McDonald, Pinki Munot, Grace Yoon, Edward Leung, Erika L Finanger, Meganne E Leach, James Collins, Cuixia Tian, Payam Mohassel, Sarah B Neuhaus, Dimah Saade, Benjamin T Cocanougher, Mary-Lynn Chu, Mena Scavina, Carla Grosmann, Randal Richardson, Brian D Kossak, Sidney M Gospe, Vikram Bhise, Gita Tauriņa, Baiba Lace, Monica Troncoso, Mordechai Shohat, Adel Shalata, Sophelia Hoi Shan Chan, Manu Jokela, Johanna Palmio, Göknur Haliloğlu, Cristina Jou, Corine Gartioux, Herimela Solomon-Degefa, Carolin D Freiburg, Alvise Schiavinato, Haiyan Zhou, Sara Aguti, Yoram Nevo, Ichizo Nishino, Cecilia Jimenez-Mallebrera, Shireen R Lamandé, Valérie Allamand, Francesca Gualandi, Alessandra Ferlini, Daniel G MacArthur, Steve D Wilton, Raimund Wagener, Enrico Silvio Bertini, Francesco Muntoni, Carsten G Bonnemann
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy. medRxiv : the preprint server for health sciences (2024)
A Reghan Foley, Veronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Rotem Orbach, Riley M McCarty, Apurva Sarathy, Gina Norato, Beryl B Cummings, Monkol Lek, Anna Sarkozy, Russell J Butterfield, Janbernd Kirschner, Andrés Nascimento, Daniel Natera-de Benito, Susana Quijano-Roy, Kristl G Claeys, Luciano Merlini, Giacomo Pietro Comi, Monique Ryan, Denise McDonald, Pinki Munot, Grace Yoon, Edward Leung, Erika L Finanger, Meganne E Leach, James Collins, Cuixia Tian, Payam Mohassel, Sarah B Neuhaus, Dimah Saade, Benjamin T Cocanougher, Mary-Lynn Chu, Mena Scavina, Carla Grosmann, Randal Richardson, Brian D Kossak, Sidney M Gospe, Vikram Bhise, Gita Tauriņa, Baiba Lace, Monica Troncoso, Mordechai Shohat, Adel Shalata, Sophelia Hoi Shan Chan, Manu Jokela, Johanna Palmio, Göknur Haliloğlu, Cristina Jou, Corine Gartioux, Herimela Solomon-Degefa, Carolin D Freiburg, Alvise Schiavinato, Haiyan Zhou, Sara Aguti, Yoram Nevo, Ichizo Nishino, Cecilia Jimenez-Mallebrera, Shireen R Lamandé, Valérie Allamand, Francesca Gualandi, Alessandra Ferlini, Daniel G MacArthur, Steve D Wilton, Raimund Wagener, Enrico Silvio Bertini, Francesco Muntoni, Carsten G Bonnemann
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy. medRxiv : the preprint server for health sciences (2024)
A Reghan Foley, Veronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Rotem Orbach, Riley M McCarty, Apurva Sarathy, Gina Norato, Beryl B Cummings, Monkol Lek, Anna Sarkozy, Russell J Butterfield, Janbernd Kirschner, Andrés Nascimento, Daniel Natera-de Benito, Susana Quijano-Roy, Kristl G Claeys, Luciano Merlini, Giacomo Pietro Comi, Monique Ryan, Denise McDonald, Pinki Munot, Grace Yoon, Edward Leung, Erika L Finanger, Meganne E Leach, James Collins, Cuixia Tian, Payam Mohassel, Sarah B Neuhaus, Dimah Saade, Benjamin T Cocanougher, Mary-Lynn Chu, Mena Scavina, Carla Grosmann, Randal Richardson, Brian D Kossak, Sidney M Gospe, Vikram Bhise, Gita Tauriņa, Baiba Lace, Monica Troncoso, Mordechai Shohat, Adel Shalata, Sophelia Hoi Shan Chan, Manu Jokela, Johanna Palmio, Göknur Haliloğlu, Cristina Jou, Corine Gartioux, Herimela Solomon-Degefa, Carolin D Freiburg, Alvise Schiavinato, Haiyan Zhou, Sara Aguti, Yoram Nevo, Ichizo Nishino, Cecilia Jimenez-Mallebrera, Shireen R Lamandé, Valérie Allamand, Francesca Gualandi, Alessandra Ferlini, Daniel G MacArthur, Steve D Wilton, Raimund Wagener, Enrico Silvio Bertini, Francesco Muntoni, Carsten G Bonnemann
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy. medRxiv : the preprint server for health sciences (2024)
A Reghan Foley, Veronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Rotem Orbach, Riley M McCarty, Apurva Sarathy, Gina Norato, Beryl B Cummings, Monkol Lek, Anna Sarkozy, Russell J Butterfield, Janbernd Kirschner, Andrés Nascimento, Daniel Natera-de Benito, Susana Quijano-Roy, Kristl G Claeys, Luciano Merlini, Giacomo Pietro Comi, Monique Ryan, Denise McDonald, Pinki Munot, Grace Yoon, Edward Leung, Erika L Finanger, Meganne E Leach, James Collins, Cuixia Tian, Payam Mohassel, Sarah B Neuhaus, Dimah Saade, Benjamin T Cocanougher, Mary-Lynn Chu, Mena Scavina, Carla Grosmann, Randal Richardson, Brian D Kossak, Sidney M Gospe, Vikram Bhise, Gita Tauriņa, Baiba Lace, Monica Troncoso, Mordechai Shohat, Adel Shalata, Sophelia Hoi Shan Chan, Manu Jokela, Johanna Palmio, Göknur Haliloğlu, Cristina Jou, Corine Gartioux, Herimela Solomon-Degefa, Carolin D Freiburg, Alvise Schiavinato, Haiyan Zhou, Sara Aguti, Yoram Nevo, Ichizo Nishino, Cecilia Jimenez-Mallebrera, Shireen R Lamandé, Valérie Allamand, Francesca Gualandi, Alessandra Ferlini, Daniel G MacArthur, Steve D Wilton, Raimund Wagener, Enrico Silvio Bertini, Francesco Muntoni, Carsten G Bonnemann
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy. medRxiv : the preprint server for health sciences (2024)
Federica Trucco, Deborah Ridout, Harriet Weststrate, Mariacristina Scoto, Annemarie Rohwer, Giorgia Coratti, Marion L Main, Anna G Mayhew, Jacqueline Montes, Roberto De Sanctis, Marika Pane, Maria Carmela Pera, Valeria A Sansone, Emilio Albamonte, Adele D'Amico, Claudio Bruno, Sonia S Messina, Anne-Marie Childs, Tracey Willis, Min T Ong, Laurent Servais, Anirban Majumdar, Imelda Hughes, Chiara Marini-Bettolo, Deepak Parasuraman, Vasantha Lakshmi Gowda, Giovanni Baranello, Enrico Silvio Bertini, Darryl C De Vivo, Basil T Darras, John W Day, Oscar H Mayer, Zarazuela Zolkipli-Cunningham, Richard S Finkel, Eugenio Mercuri, Francesco Muntoni, null null
Therapeutic Role of Nusinersen on Respiratory Progression in Pediatric Patients With Spinal Muscular Atrophy Type 2 and Nonambulant Type 3. Neurology. Clinical practice 14 (3) (2024)
A Reghan Foley, Veronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Rotem Orbach, Riley M McCarty, Apurva Sarathy, Gina Norato, Beryl B Cummings, Monkol Lek, Anna Sarkozy, Russell J Butterfield, Janbernd Kirschner, Andrés Nascimento, Daniel Natera-de Benito, Susana Quijano-Roy, Kristl G Claeys, Luciano Merlini, Giacomo Pietro Comi, Monique Ryan, Denise McDonald, Pinki Munot, Grace Yoon, Edward Leung, Erika L Finanger, Meganne E Leach, James Collins, Cuixia Tian, Payam Mohassel, Sarah B Neuhaus, Dimah Saade, Benjamin T Cocanougher, Mary-Lynn Chu, Mena Scavina, Carla Grosmann, Randal Richardson, Brian D Kossak, Sidney M Gospe, Vikram Bhise, Gita Tauriņa, Baiba Lace, Monica Troncoso, Mordechai Shohat, Adel Shalata, Sophelia Hoi Shan Chan, Manu Jokela, Johanna Palmio, Göknur Haliloğlu, Cristina Jou, Corine Gartioux, Herimela Solomon-Degefa, Carolin D Freiburg, Alvise Schiavinato, Haiyan Zhou, Sara Aguti, Yoram Nevo, Ichizo Nishino, Cecilia Jimenez-Mallebrera, Shireen R Lamandé, Valérie Allamand, Francesca Gualandi, Alessandra Ferlini, Daniel G MacArthur, Steve D Wilton, Raimund Wagener, Enrico Silvio Bertini, Francesco Muntoni, Carsten G Bonnemann
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy. medRxiv : the preprint server for health sciences (2024)
Georgia Stimpson, Danielle Ramsey, Amy Wolfe, Anna Mayhew, Mariacristina Scoto, Giovanni Baranello, Robert Muni-Lofra, Marion Main, Evelin Milev, Giorgia Coratti, Marika Pane, Valeria Sansone, Adele D'Amico, Enrico Silvio Bertini, Sonia Messina, Claudio Bruno, Emilio Albamonte, Elena Stacy Mazzone, Jacqueline Montes, Allan M Glanzman, Zarazuela Zolkipli-Cunningham, Amy Pasternak, Tina Duong, Sally Dunaway Young, Matthew Civitello, Chiara Marini-Bettolo, John W Day, Basil T Darras, Darryl C De Vivo, Richard S Finkel, Eugenio Mercuri, Francesco Muntoni, null null
2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants. Journal of clinical medicine 12 (5) (2023)
Riccardo Zocchi, Claudia Compagnucci, Enrico Silvio Bertini, Antonella Sferra
Deciphering the Tubulin Language: Molecular Determinants and Readout Mechanisms of the Tubulin Code in Neurons. International journal of molecular sciences 24 (3) (2023)
Aurélien Perrin, Corinne Métay, Marco Savarese, Rabah Ben Yaou, German Demidov, Isabelle Nelson, Guilhem Solé, Yann Péréon, Enrico Silvio Bertini, Fabiana Fattori, Adele D'Amico, Federica Ricci, Mira Ginsberg, Andreea Seferian, Odile Boespflug-Tanguy, Laurent Servais, Françoise Chapon, Emmeline Lagrange, Karen Gaudon, Adrien Bloch, Robin Ghanem, Lucie Guyant-Maréchal, Mridul Johari, Charles Van Goethem, Michel Fardeau, Raul Juntas Morales, Casie A Genetti, Minttu Marttila, Michel Koenig, Alan Beggs, Bjarne Udd, Gisèle Bonne, Mireille Cossee
Titin copy number variations associated with dominant inherited phenotypes. Journal of medical genetics (2023)
Claudia Brogna, Marika Pane, Giorgia Coratti, Adele D'Amico, Elena Pegoraro, Luca Bello, Valeria Ada Maria Sansone, Emilio Albamonte, Sonia Messina, Antonella Pini, Maria Grazia D'Angelo, Claudio Bruno, Tiziana Mongini, Federica Silvia Ricci, Angela Berardinelli, Roberta Battini, Riccardo Masson, Enrico Silvio Bertini, Luisa Politano, Eugenio Mercuri, null Italian Dmd Group
Upper Limb Changes in DMD Patients Amenable to Skipping Exons 44, 45, 51 and 53: A 24-Month Study. Children (Basel, Switzerland) 10 (4) (2023)
Kevin A Strauss, Vincent J Carson, Emilienne Bolettieri, Mariah Everett, Ashton Bollinger, Lauren E Bowser, Keturah Beiler, Millie Young, Simon Edvardson, Nitay Fraenkel, Adele D'Amico, Enrico Silvio Bertini, Lokesh Lingappa, Devyani Chowdhury, Linda P Lowes, Megan Iammarino, Lindsay N Alfano, Karlla W Brigatti
WiTNNess: An international natural history study of infantile-onset TNNT1 myopathy. Annals of clinical and translational neurology (2023)
Claudia Brogna, Marika Pane, Giorgia Coratti, Adele D'Amico, Elena Pegoraro, Luca Bello, Valeria Ada Maria Sansone, Emilio Albamonte, Sonia Messina, Antonella Pini, Maria Grazia D'Angelo, Claudio Bruno, Tiziana Mongini, Federica Silvia Ricci, Angela Berardinelli, Roberta Battini, Riccardo Masson, Enrico Silvio Bertini, Luisa Politano, Eugenio Mercuri, null Italian Dmd Group
Upper Limb Changes in DMD Patients Amenable to Skipping Exons 44, 45, 51 and 53: A 24-Month Study. Children (Basel, Switzerland) 10 (4) (2023)
Amel Karaa, Enrico Silvio Bertini, Valerio Carelli, Bruce H Cohen, Gregory M Enns, Marni J Falk, Amy Goldstein, Gráinne Siobhan 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, Russell Saneto, Fernando Scaglia, Serenella Servidei, Mark Tarnopolsky, Antonio Toscano, Johan L K Van Hove, John Vissing, Jerry Vockley, Jeffrey S Finman, David A Brown, James A Shiffer, Michelangelo Mancuso, null null
Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial. Neurology (2023)
Riccardo Zocchi, Claudia Compagnucci, Enrico Silvio Bertini, Antonella Sferra
Deciphering the Tubulin Language: Molecular Determinants and Readout Mechanisms of the Tubulin Code in Neurons. International journal of molecular sciences 24 (3) (2023)
Camille Engel, Stéphanie Valence, Geoffroy Delplancq, Reza Maroofian, Andrea Accogli, Emanuele Agolini, Fowzan Sami Alkuraya, Valentina Baglioni, Irene Bagnasco, Mathilde Becmeur-Lefebvre, Enrico Silvio Bertini, Ingo Borggraefe, Elise Brischoux-Boucher, Ange-Line Bruel, Alfredo Brusco, Dalal K Bubshait, Christelle Cabrol, Maria Roberta Cilio, Marie-Coralie Cornet, Christine Coubes, Olivier Danhaive, Valérie Delague, Anne Sophie Denommé-Pichon, Marilena Carmela Di Giacomo, Martine Doco-Fenzy, Hartmut Engels, Kirsten Cremer, Marion Gérard, Joseph G Gleeson, Delphine Heron, Joanna Goffeney, Anne Guimier, Frederike L Harms, Henry Houlden, Michele Iacomino, Rauan Kaiyrzhanov, Benjamin Kamien, Ehsan Ghayoor Karimiani, Dror Kraus, Paul Kuentz, Kerstin Kutsche, Damien Lederer, Lauren Massingham, Cyril Mignot, Deborah J Morris-Rosendahl, Lakshmi Nagarajan, Sylvie Odent, Clothilde Ormières, Jennifer Neil Partlow, Laurent Pasquier, Lynette Penney, Christophe Philippe, Gianluca Piccolo, Cathryn Poulton, Audrey Putoux, Marlène Rio, Christelle Rougeot, Vincenzo Salpietro, Ingrid Scheffer, Amy L Schneider, Siddharth Srivastava, Rachel Straussberg, Pasquale Striano, Enza Maria Valente, Perrine Venot, Laurent Villard, Antonio Vitobello, Johanna Wagner, Matias Wagner, Maha Saad Zaki, Federizo Zara, Gaëtan Lesca, Vahid Reza Yassaee, Mohammad Miryounesi, Feyzollah Hashemi-Gorji, Mehran Beiraghi, Farah Ashrafzadeh, Hamid Galehdari, Christopher A Walsh, Antonio Novelli, Moritz Tacke, Dinara Sadykova, Yerdan Maidyrov, Kairgali Koneev, Chingiz Shashkin, Valeria Capra, Mina Zamani, Lionel Van Maldergem, Lydie Burglen, Juliette Piard
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients. European journal of human genetics : EJHG (2023)
Vito Luigi Colona, Enrico Silvio Bertini, Maria Cristina Digilio, Adele D'Amico, Antonio Novelli, Stefano Pro, Elisa Pisaneschi, Francesco Nicita
A New Case of Autosomal-Dominant POLR3B -Related Disorder: Widening Genotypic and Phenotypic Spectrum . Brain sciences 13 (11) (2023)
Riccardo Zocchi, Claudia Compagnucci, Enrico Silvio Bertini, Antonella Sferra
Deciphering the Tubulin Language: Molecular Determinants and Readout Mechanisms of the Tubulin Code in Neurons. International journal of molecular sciences 24 (3) (2023)
Valentina Serpieri, Giulia Mortarini, Hailey Loucks, Tommaso Biagini, Alessia Micalizzi, Ilaria Palmieri, Jennifer C Dempsey, Fulvio D'Abrusco, Concetta Mazzotta, Roberta Battini, Enrico Silvio Bertini, Eugen Boltshauser, Renato Borgatti, Knut Brockmann, Stefano D'Arrigo, Nardo Nardocci, Rita Fischetto, Emanuele Agolini, Antonio Novelli, Alfonso Romano, Ludovica Pasca, Franco Stanzial, Sabrina Signorini, Pietro Strisciuglio, Simone Gana, Tommaso Mazza, Dan Doherty, Enza Maria Valente
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome. Journal of medical genetics (2023)
Thomas O Crawford, Kathryn J Swoboda, Darryl C De Vivo, Enrico Silvio Bertini, Paul Wuh-Liang Hwu, Richard S Finkel, Janbernd Kirschner, Nancy L Kuntz, Aledie Navas Nazario, Julie A Parsons, Astrid Pechmann, Monique M Ryan, Russell J Butterfield, Haluk A Topaloglu, Tawfeg Ben-Omran, Valeria Ada Sansone, Yuh-Jyh Jong, Francy Shu, Cong Zhu, Stephanie Raynaud, Tiffany R Lago, Angela D Paradis, Richard Foster, Russell Chin, Zdenek Berger, null null
Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5-year update of the NURTURE study. Muscle & nerve (2023)
Georgia Stimpson, Danielle Ramsey, Amy Wolfe, Anna Mayhew, Mariacristina Scoto, Giovanni Baranello, Robert Muni-Lofra, Marion Main, Evelin Milev, Giorgia Coratti, Marika Pane, Valeria Sansone, Adele D'Amico, Enrico Silvio Bertini, Sonia Messina, Claudio Bruno, Emilio Albamonte, Elena Stacy Mazzone, Jacqueline Montes, Allan M Glanzman, Zarazuela Zolkipli-Cunningham, Amy Pasternak, Tina Duong, Sally Dunaway Young, Matthew Civitello, Chiara Marini-Bettolo, John W Day, Basil T Darras, Darryl C De Vivo, Richard S Finkel, Eugenio Mercuri, Francesco Muntoni, null null
2-Year Change in Revised Hammersmith Scale Scores in a Large Cohort of Untreated Paediatric Type 2 and 3 SMA Participants. Journal of clinical medicine 12 (5) (2023)
Francesco Errico, Carmen Marino, Manuela Grimaldi, Tommaso Nuzzo, Valentina Bassareo, Valeria Valsecchi, Chiara Panicucci, Elia Di Schiavi, Tommaso Mazza, Claudio Bruno, Adele D'Amico, Manolo Carta, Anna Maria D'Ursi, Enrico Silvio Bertini, Livio Pellizzoni, Alessandro Usiello
Nusinersen Induces Disease-Severity-Specific Neurometabolic Effects in Spinal Muscular Atrophy. Biomolecules 12 (10) (2022)
Matthew N Bainbridge, Aloran Mazumder, Daisuke Ogasawara, Rami Abou Jamra, Geneviève Bernard, Enrico Silvio Bertini, Lydie Burglen, Heidi Cope, Ali Crawford, Alexa Derksen, Leon Dure, Emily Gantz, Margarete Koch-Hogrebe, Anna C E Hurst, Sonal Mahida, Paige Marshall, Alessia Micalizzi, Antonio Novelli, Hongfan Peng, null null, Diana Rodriguez, Shira L Robbins, S Lane Rutledge, Roberta Scalise, Sophia Schließke, Vandana Shashi, Siddharth Srivastava, Isabelle Thiffault, Sarah Topol, null null, Leila Qebibo, Dagmar Wieczorek, Benjamin Cravatt, Svasti Haricharan, Ali Torkamani, Jennifer Friedman
Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome. Brain : a journal of neurology 145 (10) (2022)
Luca Bosco, Daniela Leone, Laura Costa Comellas, Mauro Monforte, Marika Pane, Eugenio Mercuri, Enrico Silvio Bertini, Adele D'Amico, Fabiana Fattori
Novel Splicing Mutation in MTM1 Leading to Two Abnormal Transcripts Causes Severe Myotubular Myopathy. International journal of molecular sciences 23 (18) (2022)
Romina Romaniello, Ludovica Pasca, Elena Panzeri, Fulvio D'Abrusco, Lorena Travaglini, Valentina Serpieri, Sabrina Signorini, Chiara Aiello, Enrico Silvio Bertini, Maria Teresa Bassi, Enza Maria Valente, Ginevra Zanni, Renato Borgatti, Filippo Arrigoni
Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1 -Related Disorders. International journal of molecular sciences 23 (12) (2022)
Marika Pane, Giorgia Coratti, Maria Carmela Pera, Valeria A Sansone, Sonia Messina, Adele d'Amico, Claudio Bruno, Francesca Salmin, Emilio Albamonte, Roberto De Sanctis, Maria Sframeli, Vincenzo Di Bella, Simone Morando, Concetta Palermo, Anna Lia Frongia, Laura Antonaci, Anna Capasso, Michela Catteruccia, Antonella Longo, Martina Ricci, Costanza Cutrona, Alice Pirola, Chiara Bravetti, Marina Pedemonte, Noemi Brolatti, Enrico Silvio Bertini, Eugenio Mercuri, null null
Nusinersen efficacy data for 24-month in type 2 and 3 spinal muscular atrophy. Annals of clinical and translational neurology 9 (3) (2022)
Francesco Nicita, Letizia Sabatini, Viola Alesi, Giulia Lucignani, Ester Sallicandro, Antonella Sferra, Enrico Silvio Bertini, Ginevra Zanni, Giuseppe Palumbo
Neurological and Neuroimaging Features of CYB5R3 -Related Recessive Hereditary Methemoglobinemia Type II. Brain sciences 12 (2) (2022)
Alberto Romano, Martina Favetta, Susanna Summa, Tommaso Schirinzi, Enrico Silvio Bertini, Enrico Castelli, Gessica Vasco, Maurizio Petrarca
Upper Body Physical Rehabilitation for Children with Ataxia through IMU-Based Exergame. Journal of clinical medicine 11 (4) (2022)
Floriana Costanzo, Ginevra Zanni, Elisa Fucà, Margherita Di Paola, Sabina Barresi, Lorena Travaglini, Giovanna Stefania Colafati, Antonio Gambardella, Emanuele Bellacchio, Enrico Silvio Bertini, Menghini Deny, Stefano Vicari
Cerebellar Agenesis and Bilateral Polimicrogyria Associated with Rare Variants of CUB and Sushi Multiple Domains 1 Gene (CSMD1): A Longitudinal Neuropsychological and Neuroradiological Case Study. International journal of environmental research and public health 19 (3) (2022)
Fiorella Colasuonno, Chiara Marioli, Tartaglia Marco, Enrico Silvio Bertini, Claudia Compagnucci, Sandra Moreno
New Insights into the Neurodegeneration Mechanisms Underlying Riboflavin Transporter Deficiency (RTD): Involvement of Energy Dysmetabolism and Cytoskeletal Derangement. Biomedicines 10 (6) (2022)
Francisco Cammarata-Scalisi, Michele Callea, Diego Martinelli, Colin Eric Willoughby, Antonio Cárdenas Tadich, Maykol Araya Castillo, María Angelina Lacruz-Rengel, Marco Medina, Piercesare Grimaldi, Enrico Silvio Bertini, Julián Nevado
Clinical and Genetic Aspects of Phelan-McDermid Syndrome: An Interdisciplinary Approach to Management. Genes 13 (3) (2022)
Salvatore Rossi, Anna Rubegni, Vittorio Riso, Melissa Barghigiani, Maria Teresa Bassi, Roberta Battini, Enrico Silvio Bertini, Cristina Cereda, Ettore Cioffi, Chiara Criscuolo, Beatrice Dal Fabbro, Clemente Dato, Maria Grazia D'Angelo, Antonio Di Muzio, Luca Diamanti, Maria Teresa Dotti, Alessandro Filla, Valeria Gioiosa, Rocco Liguori, Andrea Martinuzzi, Roberto Massa, Andrea Mignarri, Rossana Moroni, Olimpia Musumeci, Francesco Nicita, Ilaria Orologio, Laura Orsi, Elena Pegoraro, Antonio Petrucci, Massimo Plumari, Ivana Ricca, Giovanni Rizzo, Giovanni Ristori, Roberto Rumore, Simone Sampaolo, Marina Scarlato, Marco Seri, Cristina Stefan, Giulia Straccia, Alessandra Tessa, Lorena Travaglini, Rosanna Trovato, Lucia Ulgheri, Giovanni Vazza, Antonio Orlacchio, Gabriella Silvestri, Filippo Maria Santorelli, Mariarosa Anna Beatrice Melone, Carlo Casali
Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network. Neurology. Genetics 8 (2) (2022)
Rossella Borghi, Valentina Magliocca, Marina Trivisano, Nicola Specchio, Tartaglia Marco, Enrico Silvio Bertini, Claudia Compagnucci
Modeling PCDH19-CE: From 2D Stem Cell Model to 3D Brain Organoids. International journal of molecular sciences 23 (7) (2022)
Guido Primiano, Alessandra Torraco, Daniela Verrigni, Andrea Sabino, Enrico Silvio Bertini, Rosalba Carrozzo, Gabriella Silvestri, Serenella Servidei
Novel TOP3A Variant Associated With Mitochondrial Disease: Expanding the Clinical Spectrum of Topoisomerase III Alpha-Related Diseases. Neurology. Genetics 8 (4) (2022)
Sara Petrillo, Jessica D'Amico, Francesco Nicita, Caterina Torda, Gessica Vasco, Enrico Silvio Bertini, Marco Cappa, Fiorella Piemonte
Antioxidant Response in Human X-Linked Adrenoleukodystrophy Fibroblasts. Antioxidants (Basel, Switzerland) 11 (11) (2022)
Marjo S van der Knaap, Joshua Leith Bonkowsky, Adeline Vanderver, Raphael Schiffmann, Ingeborg Krägeloh-Mann, Enrico Silvio Bertini, Genevieve Bernard, Seyed Ali Fatemi, Nicole I Wolf, Elise Saunier-Vivar, Robert Rauner, Hanka Dekker, Pieter van Bokhoven, Peter M van de Ven, Prisca S Leferink
Therapy Trial Design in Vanishing White Matter: An Expert Consortium Opinion. Neurology. Genetics 8 (2) (2022)
Gerarda Cappuccio, Camilla Ceccatelli Berti, Enrico Baruffini, Jennifer Sullivan, Vandana Shashi, Tamison Jewett, Tara Stamper, Silvia Maitz, Francesco Canonico, Anya Revah-Politi, Gabriel S Kupchik, Kwame Anyane-Yeboa, Vimla Aggarwal, Andreas Benneche, Eirik Bratland, Siren Berland, Felice D'Arco, Cesar A Alves, Adeline Vanderver, Daniela Longo, Enrico Silvio Bertini, Annalaura Torella, Vincenzo Nigro, null null, Alessandra D'Amico, Marjo S van der Knaap, Paola Goffrini, Nicola Brunetti-Pierri
Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease. Human mutation 42 (6) (2021)
Sara Nuovo, Alessia Micalizzi, Ludovica Pasca, Filippo Arrigoni, Monia Ginevrino, Antonella Casella, Valentina Serpieri, Stefano D'Arrigo, Marilena Briguglio, Grazia Gabriella Salerno, Sara Rossato, Stefano Sartori, Vincenzo Leuzzi, Roberta Battini, Bruria Ben-Zeev, Claudio Graziano, Marisol Mirabelli Badenier, Vesna Brankovic, Nardo Nardocci, Ronen Spiegel, Danijela Petković Ramadža, Giovanni Vento, Itxaso Marti, Alessandro Simonati, Savina Dipresa, Elena Freri, Tommaso Mazza, Maria Teresa Bassi, Luca Bosco, Lorena Travaglini, Ginevra Zanni, Enrico Silvio Bertini, Nicola Vanacore, Renato Borgatti, Enza Maria Valente
Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study. Journal of medical genetics (2021)
Marika Pane, Giorgia Coratti, Valeria Ada Sansone, Sonia Messina, Michela Catteruccia, Claudio Bruno, Maria Sframeli, Emilio Albamonte, Marina Pedemonte, Adele D'Amico, Chiara Bravetti, Beatrice Berti, Concetta Palermo, Daniela Leone, Giorgia Brigati, Paola Tacchetti, Francesca Salmin, Roberto De Sanctis, Simona Lucibello, Maria Carmela Pera, Marco Piastra, Orazio Genovese, Enrico Silvio Bertini, Gianluca Vita, Francesco Danilo Tiziano, Eugenio Mercuri, null null
Type I SMA "new natural history": long-term data in nusinersen-treated patients. Annals of clinical and translational neurology 8 (3) (2021)
Antonella Sferra, Paola Fortugno, Marialetizia Motta, Chiara Aiello, Stefania Petrini, Andrea Ciolfi, Francesca Cipressa, Isabella Moroni, Kariona A Grabińska, Luisa Pieroni, Federica Marini, Odile Boespflug Tanguy, Eleonore Eymard-Pierre, Federica Rachele Danti, Claudia Compagnucci, Giovanna Zambruno, Alfredo Brusco, Filippo M Santorelli, Luisa Chiapparini, Paola Francalanci, Anna Livia Loizzo, Tartaglia Marco, Gianluca Cestra, Enrico Silvio Bertini
Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness. Brain : a journal of neurology 144 (10) (2021)
Michela Di Nottia, Daniela Verrigni, Alessandra Torraco, Teresa Rizza, Enrico Silvio Bertini, Rosalba Carrozzo
Mitochondrial Dynamics: Molecular Mechanisms, Related Primary Mitochondrial Disorders and Therapeutic Approaches. Genes 12 (2) (2021)
Valentina Serpieri, Fulvio D'Abrusco, Jennifer C Dempsey, Yong-Han Hank Cheng, Filippo Arrigoni, Janice Baker, Roberta Battini, Enrico Silvio Bertini, Renato Borgatti, Angela K Christman, Cynthia Curry, Stefano D'Arrigo, Joel Fluss, Michael Freilinger, Simone Gana, Gisele E Ishak, Vincenzo Leuzzi, Hailey Loucks, Filippo Manti, Nancy Mendelsohn, Laura Merlini, Caitlin V Miller, Ansar Muhammad, Sara Nuovo, Ludovica Pasca, Wolfgang Schmidt, Sabrina Signorini, Sabrina Siliquini, Krzysztof Szczaluba, Gessica Vasco, Meredith Wilson, Ginevra Zanni, Eugen Boltshauser, Dan Doherty, Enza Maria Valente, null null
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum. Journal of medical genetics (2021)
Alessandra Torraco, Alessia Nasca, Daniela Verrigni, Alessandra Pennisi, Maha S Zaki, Giorgia Olivieri, Zahra Assouline, Diego Martinelli, Reza Maroofian, Teresa Rizza, Michela Di Nottia, Federica Invernizzi, Eleonora Lamantea, Daniela Longo, Henry Houlden, Holger Prokisch, Agnès Rötig, Carlo Dionisi-Vici, Enrico Silvio Bertini, Daniele Ghezzi, Rosalba Carrozzo, Nazzareno Diodato
Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation. Human mutation 42 (6) (2021)
Sara Nuovo, Valentina Baglioni, Roberta De Mori, Silvia Tardivo, Caterina Caputi, Monia Ginevrino, Alessia Micalizzi, Laura Masuelli, Giulia Federici, Antonella Casella, Elisa Lorefice, Danila Anello, Manuela Tolve, Donatella Farini, Enrico Silvio Bertini, Ginevra Zanni, Lorena Travaglini, Gessica Vasco, Claudio Sette, Carla Carducci, Enza Maria Valente, Vincenzo Leuzzi
Clinical variability at the mild end of BRAT1-related spectrum: Evidence from two families with genotype-phenotype discordance. Human mutation (2021)
Ferdy S van Geest, Stefan Groeneweg, Erica L T van den Akker, Iuliu Bacos, Diana Barca, Sjoerd A A van den Berg, Enrico Silvio Bertini, Doris Brunner, Nicola Brunetti-Pierri, Marco Cappa, Gerarda Cappuccio, Krishna Chatterjee, Alexander D Chesover, Peter Christian, Régis Coutant, Dana Craiu, Patricia Crock, Cheyenne Dewey, Alice Dica, Paul Dimitri, Rachana Dubey, Anina Enderli, Jan Fairchild, Jonathan Gallichan, Luigi R Garibaldi, Belinda George, Annette Hackenberg, Bianka Heinrich, Tony Huynh, Anna Kłosowska, Amy Lawson-Yuen, Michaela Linder-Lucht, Greta Lyons, Felipe Monti Lora, Carla Moran, Katalin E Müller, Laura Paone, Praveen G Paul, Michel Polak, Francesco Porta, Christina Reinauer, Yolanda B de Rijke, Rowen Seckold, Tuba Seven Menevşe, Peter Simm, Anna Simon, Marco Spada, Athanasia Stoupa, Lilla Szeifert, Davide Tonduti, Hans van Toor, Serap Turan, Joel Vanderniet, Monique de Waart, Ronald van der Wal, Adri van der Walt, Anne-Marie van Wermeskerken, Jolanta Wierzba, Federica Zibordi, Amnon Zung, Robin P Peeters, W Edward Visser
Long-term efficacy of T3 analogue Triac in children and adults with MCT8 deficiency: a real-life retrospective cohort study. The Journal of clinical endocrinology and metabolism (2021)
Francesco Nicita, Lorena Travaglini, Francesco Bombelli, Michele Tosi, Stefano Pro, Enrico Silvio Bertini, Adele D'Amico
Novel SEPSECS Pathogenic Variants Featuring Unusual Phenotype of Complex Movement Disorder With Thin Corpus Callosum: A Case Report. Neurology. Genetics 8 (2) (2021)
Alessandra Torraco, Reza Maroofian, Agnès Rötig, Enrico Silvio Bertini, Daniele Ghezzi, Rosalba Carrozzo, Nazzareno Diodato
Response to: Phenotypic heterogeneity of Leigh syndrome due to NDUFA12 variants is multicausal. Human mutation (2021)
Martina Sandonà, Silvia Consalvi, Luca Tucciarone, Marco De Bardi, Manuel Scimeca, Daniela Francesca Angelini, Valentina Buffa, Adele D'Amico, Enrico Silvio Bertini, Sara Cazzaniga, Paolo Bettica, Marina Bouché, Antonella Bongiovanni, Pier Lorenzo Puri, Valentina Saccone
HDAC inhibitors tune miRNAs in extracellular vesicles of dystrophic muscle-resident mesenchymal cells. EMBO reports 21 (9) (2020)
Piergiorgio La Rosa, Sara Petrillo, Enrico Silvio Bertini, Fiorella Piemonte
Oxidative Stress in DNA Repeat Expansion Disorders: A Focus on NRF2 Signaling Involvement. Biomolecules 10 (5) (2020)
Chiara Marioli, Valentina Magliocca, Stefania Petrini, Alessia Niceforo, Rossella Borghi, Sara Petrillo, Piergiorgio La Rosa, Fiorella Colasuonno, Tiziana Persichini, Fiorella Piemonte, Keith Massey, Marco Tartaglia, Sandra Moreno, Enrico Silvio Bertini, Claudia Compagnucci
Antioxidant Amelioration of Riboflavin Transporter Deficiency in Motoneurons Derived from Patient-Specific Induced Pluripotent Stem Cells. International journal of molecular sciences 21 (19) (2020)
Paulo Victor Sgobbi de Souza, Wladimir Bocca Vieira de Resende Pinto, A Ricarte, B M L Badia, D D Seneor, D T Teixeira, L Caetano, E A Gonçalves, M A T Chieia, I B Farias, Enrico Silvio Bertini, A S B Oliveira
Clinical and radiological profile of patients with spinal muscular atrophy type 4. European journal of neurology 28 (2) (2020)
Piergiorgio La Rosa, Sara Petrillo, Maria Teresa Fiorenza, Enrico Silvio Bertini, Fiorella Piemonte
Ferroptosis in Friedreich's Ataxia: A Metal-Induced Neurodegenerative Disease. Biomolecules 10 (11) (2020)
V A Sansone, G Coratti, M C Pera, M Pane, S Messina, F Salmin, E Albamonte, R De Sanctis, M Sframeli, V Di Bella, S Morando, A d'Amico, A L Frongia, L Antonaci, Alice Pirola, M Pedemonte, Enrico Silvio Bertini, C Bruno, Eugenio Mercuri, null null
Sometimes they come back: New and old spinal muscular atrophy adults in the era of nusinersen. European journal of neurology 28 (2) (2020)
Fiorella Colasuonno, Enrico Silvio Bertini, Marco Tartaglia, Claudia Compagnucci, Sandra Moreno
Mitochondrial Abnormalities in Induced Pluripotent Stem Cells-Derived Motor Neurons from Patients with Riboflavin Transporter Deficiency. Antioxidants (Basel, Switzerland) 9 (12) (2020)
Antonella Sferra, Francesco Nicita, Enrico Silvio Bertini
Microtubule Dysfunction: A Common Feature of Neurodegenerative Diseases. International journal of molecular sciences 21 (19) (2020)
Daniela Verrigni, Michela Di Nottia, Anna Ardissone, Enrico Baruffini, Alessia Nasca, Andrea Legati, Emanuele Bellacchio, Gigliola Fagiolari, Diego Martinelli, Lucia Fusco, Domenica Battaglia, Giulia Trani, Gianmarco Versienti, Silvia Marchet, Alessandra Torraco, Teresa Rizza, Margherita Verardo, Adele D'Amico, Nazzareno Diodato, Isabella Moroni, Costanza Lamperti, Stefania Petrini, Maurizio Moggio, Paola Goffrini, Daniele Ghezzi, Rosalba Carrozzo, Enrico Silvio Bertini
Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy. Human mutation 40 (5) (2019)
Claudia Brogna, Giorgia Coratti, Marika Pane, Valeria Ricotti, Sonia Messina, Adele D'Amico, Claudio Bruno, Gianluca Vita, Angela Berardinelli, Elena Mazzone, Francesca Magri, Federica Ricci, Tiziana Mongini, Roberta Battini, Luca Bello, Elena Pegoraro, Giovanni Baranello, Stefano C Previtali, Luisa Politano, Giacomo P Comi, Valeria A Sansone, Alice Donati, Enrico Silvio Bertini, Francesco Muntoni, Nathalie Goemans, Eugenio Mercuri, null null
Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53. PloS one 14 (6) (2019)
Makenzie Saoura, Christopher A Powell, Robert Kopajtich, Ahmad Alahmad, Haya H Al-Balool, Buthaina Albash, Majid Alfadhel, Charlotte L Alston, Enrico Silvio Bertini, Penelope E Bonnen, Drago Bratkovic, Rosalba Carrozzo, Maria A Donati, Michela Di Nottia, Daniele Ghezzi, Amy Goldstein, Eric Haan, Rita Horvath, Joanne Hughes, Federica Invernizzi, Eleonora Lamantea, Benjamin Lucas, Kyla-Gaye Pinnock, Maria Pujantell, Shamima Rahman, Pedro Rebelo-Guiomar, Saikat Santra, Daniela Verrigni, Robert McFarland, Holger Prokisch, Robert W Taylor, Louis Levinger, Michal Minczuk
Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing. Human mutation 40 (10) (2019)
Alba Signes, Raffaele Cerutti, Anna S Dickson, Cristiane Benincá, Elizabeth C Hinchy, Daniele Ghezzi, Rosalba Carrozzo, Enrico Silvio Bertini, Michael P Murphy, James A Nathan, Carlos Pardo-Hernández, Erika Fernández-Vizarra, Massimo Zeviani
APOPT1/COA8 assists COX assembly and is oppositely regulated by UPS and ROS. EMBO molecular medicine 11 (1) (2019)
Enrico Silvio Bertini, Géraldine Greff, Nathalie Drouot, Cathy Obringer, Hélène Dollfus, Vincent Laugel, Jamel Chelly, Nadège Calmels
Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome. European journal of human genetics : EJHG 26 (4) (2018)
Claudia Castiglioni, Fabiana Fattori, Bjarne Udd, Maria de Los Angeles Avaria, Bernardita Suarez, Adele D'Amico, Alessandro Malandrini, Rosalba Carrozzo, Daniela Verrigni, Enrico Silvio Bertini, Giorgio Tasca
Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variants. European journal of human genetics : EJHG 26 (3) (2018)