Francesco Muntoni (F Muntoni, Elena Pegoraro)

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 43

Top Topics

Duchenne Muscular Dystrophy

Intensive Care Unit

Autism Spectrum Disorder

Top Venues

Journal of neurology

medRxiv : the preprint server for health sciences

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

Publications

Claudia A Chiriboga, Claudio Bruno, Tina Duong, Dirk Fischer, Eugenio Mercuri, Janbernd Kirschner, Maria Jędrzejowska, Birgit Jaber, Ksenija Gorni, Heidemarie Kletzl, Imogen Carruthers, Carmen Martin, Renata S Scalco, Paulo Fontoura, Francesco Muntoni, null null
JEWELFISH: 24-month results from an open-label study in non-treatment-naïve patients with SMA receiving treatment with risdiplam. Journal of neurology (2024)
Wouter Steyaert, Lydia Sagath, German Demidov, Vicente A Yépez, Anna Esteve-Codina, Julien Gagneur, Kornelia Ellwanger, Ronny Derks, Janneke M Weiss, Amber den Ouden, Simone van den Heuvel, Hilde Swinkels, Nick Zomer, Marloes Steehouwer, Luke O'Gorman, Galuh Astuti, Kornelia Neveling, Rebecca Schüle, Jishu Xu, Matthis Synofzik, Danique Beijer, Holger Hengel, Ludger Schöls, Kristl G Claeys, Jonathan Baets, Liedewei Van de Vondel, Alessandra Ferlini, Rita Selvatici, Heba Morsy, Marwa Saeed Abd Elmaksoud, Volker Straub, Juliane Müller, Veronica Pini, Luke Perry, Anna Sarkozy, Irina T Zaharieva, Francesco Muntoni, Enrico Bugiardini, Kiran Polavarapu, Rita Horvath, Evan Reid, Hanns Lochmüller, Marco Spinazzi, Marco Savarese, null null, null null, null null, null null, Leslie Matalonga, Steven Laurie, Han G Brunner, Holm Graessner, Sergi Beltran, Stephan Ossowski, Lisenka E L M Vissers, Christian Gilissen, Alexander Hoischen
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing. medRxiv : the preprint server for health sciences (2024)
Claudia A Chiriboga, Claudio Bruno, Tina Duong, Dirk Fischer, Eugenio Mercuri, Janbernd Kirschner, Maria Jędrzejowska, Birgit Jaber, Ksenija Gorni, Heidemarie Kletzl, Imogen Carruthers, Carmen Martin, Renata S Scalco, Paulo Fontoura, Francesco Muntoni, null null
JEWELFISH: 24-month results from an open-label study in non-treatment-naïve patients with SMA receiving treatment with risdiplam. Journal of neurology 271 (8) (2024)
Georgia Stimpson, Deborah Ridout, Anna Sarkozy, Adnan Manzur, Francesco Muntoni, Giovanni Baranello, null null
Relationship between growth and ambulation loss in Duchenne muscular dystrophy boys on steroids. European journal of neurology (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)
Claudia A Chiriboga, Claudio Bruno, Tina Duong, Dirk Fischer, Eugenio Mercuri, Janbernd Kirschner, Maria Jędrzejowska, Birgit Jaber, Ksenija Gorni, Heidemarie Kletzl, Imogen Carruthers, Carmen Martin, Renata S Scalco, Paulo Fontoura, Francesco Muntoni, null null
JEWELFISH: 24-month results from an open-label study in non-treatment-naïve patients with SMA receiving treatment with risdiplam. Journal of neurology 271 (8) (2024)
Claudia A Chiriboga, Claudio Bruno, Tina Duong, Dirk Fischer, Eugenio Mercuri, Janbernd Kirschner, Maria Jędrzejowska, Birgit Jaber, Ksenija Gorni, Heidemarie Kletzl, Imogen Carruthers, Carmen Martin, Renata S Scalco, Paulo Fontoura, Francesco Muntoni, null null
JEWELFISH: 24-month results from an open-label study in non-treatment-naïve patients with SMA receiving treatment with risdiplam. Journal of neurology 271 (8) (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)
Claudia A Chiriboga, Claudio Bruno, Tina Duong, Dirk Fischer, Eugenio Mercuri, Janbernd Kirschner, Maria Jędrzejowska, Birgit Jaber, Ksenija Gorni, Heidemarie Kletzl, Imogen Carruthers, Carmen Martin, Renata S Scalco, Paulo Fontoura, Francesco Muntoni, null null
JEWELFISH: 24-month results from an open-label study in non-treatment-naïve patients with SMA receiving treatment with risdiplam. Journal of neurology 271 (8) (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)
Eugenio Mercuri, Andrés Nascimento Osorio, Francesco Muntoni, Filippo Buccella, Isabelle Desguerre, Janbernd Kirschner, Már Tulinius, Maria Bernadete Dutra de Resende, Lauren P Morgenroth, Heather Gordish-Dressman, Shelley Johnson, Allan Kristensen, Christian Werner, Panayiota Trifillis, Erik K Henricson, Craig M McDonald, null null
Safety and effectiveness of ataluren in patients with nonsense mutation DMD in the STRIDE Registry compared with the CINRG Duchenne Natural History Study (2015-2022): 2022 interim analysis. Journal of neurology (2023)
Gabrielle A Donlevy, Kayla Md Cornett, Sarah P Garnett, Rosemary Shy, Timothy Estilow, Sabrina W Yum, Kimberly Anderson, Davide Pareyson, Isabella Moroni, Francesco Muntoni, Mary M Reilly, Richard S Finkel, David N Herrmann, Katy J Eichinger, Michael E Shy, Joshua Burns, Manoj P Menezes
Association of Body Mass Index With Disease Progression in Children With Charcot-Marie-Tooth Disease. Neurology (2023)
Eugenio Mercuri, Andrés Nascimento Osorio, Francesco Muntoni, Filippo Buccella, Isabelle Desguerre, Janbernd Kirschner, Már Tulinius, Maria Bernadete Dutra de Resende, Lauren P Morgenroth, Heather Gordish-Dressman, Shelley Johnson, Allan Kristensen, Christian Werner, Panayiota Trifillis, Erik K Henricson, Craig M McDonald, null null
Correction to: Safety and effectiveness of ataluren in patients with nonsense mutation DMD in the STRIDE Registry compared with the CINRG Duchenne Natural History Study (2015-2022): 2022 interim analysis. Journal of neurology (2023)
Francesco Muntoni, James Signorovitch, Gautam Sajeev, Henry Lane, Madeline Jenkins, Ibrahima Dieye, Susan J Ward, Craig McDonald, Nathalie M Goemans, Erik H Niks, Brenda Wong, Laurent Servais, Volker Straub, Michela Guglieri, Imelda J M de Groot, Mary Chesshyre, Cuixia Tian, Adnan Y Manzur, Eugenio Mercuri, Annemieke Aartsma-Rus
DMD Genotypes and Motor Function in Duchenne Muscular Dystrophy: A Multi-institution Meta-analysis With Implications for Clinical Trials. Neurology (2023)
Anna Sarkozy, Mario Sa, Deborah Ridout, Miguel Angel Fernandez-Garcia, Maria Grazia Distefano, Marion Main, Jennie Sheehan, Adnan Y Manzur, Pinki Munot, Stephanie Robb, Elizabeth Wraige, Ros Quinlivan, Mariacristina Scoto, Giovanni Baranello, Vasantha Gowda, Rachael Mein, Rahul Phadke, Heinz Jungbluth, Francesco Muntoni
Long-term Natural History of Pediatric Dominant and Recessive RYR1 Related Myopathy. Neurology (2023)
Eugenio Mercuri, Andrés Nascimento Osorio, Francesco Muntoni, Filippo Buccella, Isabelle Desguerre, Janbernd Kirschner, Már Tulinius, Maria Bernadete Dutra de Resende, Lauren P Morgenroth, Heather Gordish-Dressman, Shelley Johnson, Allan Kristensen, Christian Werner, Panayiota Trifillis, Erik K Henricson, Craig M McDonald, null null
Safety and effectiveness of ataluren in patients with nonsense mutation DMD in the STRIDE Registry compared with the CINRG Duchenne Natural History Study (2015-2022): 2022 interim analysis. Journal of neurology (2023)
Danielle Ramsey, Gita Ramdharry, Mariacristina Scoto, Francesco Muntoni, Amanda Wallace, null null
Revised Hammersmith Scale for spinal muscular atrophy: Inter and intra-rater reliability and agreement. PloS one 17 (12) (2022)
SungWoo Choi, Giulia Ferrari, Louise A Moyle, Kirsty Ml Mackinlay, Naira Naouar, Salma Jalal, Sara Benedetti, Christine A Wells, Francesco Muntoni, Francesco Saverio Tedesco
Assessing and enhancing migration of human myogenic progenitors using directed iPS cell differentiation and advanced tissue modelling. EMBO molecular medicine 14 (10) (2022)
Francesco Muntoni, Michela Guglieri, Jean K Mah, Kathryn R Wagner, John F Brandsema, Russell J Butterfield, Craig M McDonald, Anna G Mayhew, Jeffrey P Palmer, Shannon Marraffino, Lawrence Charnas, Eugenio Mercuri
Novel approaches to analysis of the North Star Ambulatory Assessment (NSAA) in Duchenne muscular dystrophy (DMD): Observations from a phase 2 trial. PloS one 17 (8) (2022)
Danielle Ramsey, Gita Ramdharry, Mariacristina Scoto, Francesco Muntoni, Amanda Wallace, null null
Revised Hammersmith Scale for spinal muscular atrophy: Inter and intra-rater reliability and agreement. PloS one 17 (12) (2022)
Danielle Ramsey, Gita Ramdharry, Mariacristina Scoto, Francesco Muntoni, Amanda Wallace, null null
Revised Hammersmith Scale for spinal muscular atrophy: Inter and intra-rater reliability and agreement. PloS one 17 (12) (2022)
Eugenio Mercuri, Charlotte J Sumner, Francesco Muntoni, Basil T Darras, Richard S Finkel
Spinal muscular atrophy. Nature reviews. Disease primers 8 (1) (2022)
Kate Maresh, Andriani Papageorgiou, Deborah Ridout, Neil A Harrison, William Mandy, David H Skuse, Francesco Muntoni
Development of a novel startle response task in Duchenne muscular dystrophy. PloS one 17 (4) (2022)
Alberto Andrea Zambon, Federica Trucco, Aidan Laverty, Mollie Riley, Deborah Ridout, Adnan Y Manzur, Francois Abel, Francesco Muntoni
Respiratory Function and Sleep Disordered Breathing in Pediatric Duchenne Muscular Dystrophy. Neurology 99 (12) (2022)
Drew MacCannell, Zdenek Berger, Janbernd Kirschner, Eugenio Mercuri, Michelle Anne Farrar, Susan T Iannaccone, Nancy L Kuntz, Richard S Finkel, Marta Valente, Francesco Muntoni
Restoration of Nusinersen Levels Following Treatment Interruption in People With Spinal Muscular Atrophy: Simulations Based on a Population Pharmacokinetic Model. CNS drugs 36 (2) (2022)
Danielle Ramsey, Gita Ramdharry, Mariacristina Scoto, Francesco Muntoni, Amanda Wallace, null null
Revised Hammersmith Scale for spinal muscular atrophy: Inter and intra-rater reliability and agreement. PloS one 17 (12) (2022)
Amaia Paredes-Redondo, Peter Harley, Eleni Maniati, David John Ryan, Sandra Louzada, Jinhong Meng, Anna Kowala, Beiyuan Fu, Fengtang Yang, Pengtao Liu, Silvia Marino, Olivier Pourquie, Francesco Muntoni, Jun Wang, Ivo Lieberam, Yung-Yao Lin
Optogenetic modeling of human neuromuscular circuits in Duchenne muscular dystrophy with CRISPR and pharmacological corrections. Science advances 7 (37) (2021)
Gabrielle A Donlevy, Sarah P Garnett, Kayla M D Cornett, Marnee J McKay, Jennifer N Baldwin, Rosemary R Shy, Sabrina W Yum, Timothy Estilow, Isabella Moroni, Maria Foscan, Emanuela Pagliano, Davide Pareyson, Matilde Laura, Trupti Bhandari, Francesco Muntoni, Mary M Reilly, Richard S Finkel, Janet E Sowden, Katy J Eichinger, David N Herrmann, Michael E Shy, Joshua Burns, Manoj P Menezes
Association Between Body Mass Index and Disability in Children With Charcot-Marie-Tooth Disease. Neurology 97 (17) (2021)
Francesco Muntoni
Molecular Diagnosis in 100% of Dystrophinopathies: Are We There Yet? Neurology. Genetics 7 (1) (2021)
Laurent Servais, Eugenio Mercuri, Volker Straub, Michela Guglieri, Andreea M Seferian, Mariacristina Scoto, Daniela Leone, Erica Koenig, Navid Khan, Ashish Dugar, Xiaodong Wang, Baoguang Han, Dan Wang, Francesco Muntoni, null null
Long-Term Safety and Efficacy Data of Golodirsen in Ambulatory Patients with Duchenne Muscular Dystrophy Amenable to Exon 53 Skipping: A First-in-human, Multicenter, Two-Part, Open-Label, Phase 1/2 Trial. Nucleic acid therapeutics (2021)
Craig M McDonald, Francesco Muntoni, Vinay Penematsa, Joel Jiang, Allan Kristensen, Francesco Bibbiani, Elizabeth Goodwin, Heather Gordish-Dressman, Lauren Morgenroth, Christian Werner, James Li, Richard Able, Panayiota Trifillis, Már Tulinius, null null
Ataluren delays loss of ambulation and respiratory decline in nonsense mutation Duchenne muscular dystrophy patients. Journal of comparative effectiveness research (2021)
G Talenti, Caroline D Robson, Mariasavina Severino, César Augusto Pinheiro Ferreira Alves, David Chitayat, H M Dahmoush, L Smith, Francesco Muntoni, Susan I Blaser, Felice D'Arco
Characteristic Cochlear Hypoplasia in Patients with Walker-Warburg Syndrome: A Radiologic Study of the Inner Ear in α-Dystroglycan-Related Muscular Disorders. AJNR. American journal of neuroradiology 42 (1) (2020)
Diane E Frank, Frederick J Schnell, Cody Akana, Saleh H El-Husayni, Cody A Desjardins, Jennifer Morgan, Jay S Charleston, Valentina Sardone, Joana Domingos, George Dickson, Volker Straub, Michela Guglieri, Eugenio Mercuri, Laurent Servais, Francesco Muntoni, null null
Increased dystrophin production with golodirsen in patients with Duchenne muscular dystrophy. Neurology 94 (21) (2020)
Eugenio Mercuri, Maria Carmela Pera, Mariacristina Scoto, Richard S Finkel, Francesco Muntoni
Spinal muscular atrophy - insights and challenges in the treatment era. Nature reviews. Neurology 16 (12) (2020)
Federica Trucco, Deborah Ridout, Mariacristina Scoto, Giorgia Coratti, Marion L Main, Robert Muni Lofra, Anna G Mayhew, Jacqueline Montes, Marika Pane, Valeria Sansone, Emilio Albamonte, Adele D'Amico, Enrico Bertini, Sonia Messina, Claudio Bruno, Deepak Parasuraman, Anne-Marie Childs, Vasantha Gowda, Tracey Willis, Min Ong, Chiara Marini-Bettolo, Darryl C De Vivo, Basil T Darras, John Day, Elizabeth A Kichula, Oscar H Mayer, Aledie A Navas Nazario, Richard S Finkel, Eugenio Mercuri, Francesco Muntoni, null null
Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study. Neurology 96 (4) (2020)
Jean-Yves Hogrel, Valérie Decostre, Isabelle Ledoux, Marie de Antonio, Erik H Niks, Imelda J M de Groot, Volker Straub, Francesco Muntoni, Valeria Ricotti, Thomas Voit, Andreea Seferian, Laurent Servais, Laurent Servais
Normalized grip strength is a sensitive outcome measure through all stages of Duchenne muscular dystrophy. Journal of neurology 267 (7) (2020)
Vera Fridman, Stefan H Sillau, Gyula Acsadi, Chelsea Bacon, Kimberly Dooley, Joshua Burns, John Day, Shawna Feely, Richard S Finkel, Tiffany Grider, Laurie Gutmann, David N Herrmann, Callyn A Kirk, Sarrah A Knause, Matilde Laurá, Richard A Lewis, Jun Li, Thomas E Lloyd, Isabella Moroni, Francesco Muntoni, Emanuela Pagliano, Chiara Pisciotta, Giuseppe Piscosquito, Sindhu Ramchandren, Mario A Saporta, Reza Sadjadi, Rosemary R Shy, Carly E Siskind, Charlotte J Sumner, David Walk, Janel Wilcox, Sabrina W Yum, Stephan Züchner, Steven S Scherer, Davide Pareyson, Mary M Reilly, Michael E Shy, null null
A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores. Neurology 94 (9) (2020)
Francesco Muntoni, Joana Domingos, Adnan Y Manzur, Anna Mayhew, Michela Guglieri, null null, Gautam Sajeev, James Signorovitch, Susan J Ward
Categorising trajectories and individual item changes of the North Star Ambulatory Assessment in patients with Duchenne muscular dystrophy. PloS one 14 (9) (2019)
Mirko Signorelli, Burcu Ayoglu, Camilla Johansson, Hanns Lochmüller, Volker Straub, Francesco Muntoni, Erik H Niks, Roula Tsonaka, Anja Persson, Annemieke M Aartsma-Rus, Peter Nilsson, Cristina Al-Khalili Szigyarto, Pietro Spitali
Longitudinal serum biomarker screening identifies malate dehydrogenase 2 as candidate prognostic biomarker for Duchenne muscular dystrophy. Journal of cachexia, sarcopenia and muscle 11 (2) (2019)