Giacomo Pietro Comi (Giacomo P Comi, Giacomo Comi)

ORCID

Publication Activity (10 Years)

Years Active: 2015-2024
Publications (10 Years): 33

Top Venues

Annals of clinical and translational neurology

medRxiv : the preprint server for health sciences

Genes

Annals of neurology

Università degli Studi di Milano

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

Affiliation History

Università degli Studi di Milano Jul 24 2018

Italy

Professore Ordinario :: Dipartimento di fisiopatologia medico-chirurgica

University of Milan

Italy

Associate Professor of Neurology :: DEpartment of Neurological Science

University of Milan

Italy

Asssitant Professor :: Department of Neurological Sciences

Publications

Sandra Donkervoort, Martijn van de Locht, Dario Ronchi, Janine Reunert, Catriona A Mclean, Maha Saad Zaki, Rotem Orbach, Josine M de Winter, Stefan Conijn, Daan Hoomoedt, Osorio Lopes Abath Neto, Francesca Magri, Angela N Viaene, A Reghan Foley, Svetlana Gorokhova, Veronique Bolduc, Ying Hu, Nicole Acquaye, Laura Napoli, Julien H Park, Kalyan Immadisetty, Lee B Miles, Mona Essawi, Salar McModie, Leonardo F Ferreira, Simona Zanotti, Sarah B Neuhaus, Livija Medne, Nagham ElBagoury, Kory R Johnson, Yong Zhang, Nigel G Laing, Mark R Davis, Robert J Bryson-Richardson, Darren T Hwee, James J Hartman, Fady I Malik, Peter Michael Kekenes-Huskey, Giacomo Pietro Comi, Wessam E Sharaf-Eldin, Thorsten Marquardt, Gianina Ravenscroft, Carsten G Bonnemann, Coen A C Ottenheijm
Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease. Science translational medicine 16 (741) (2024)
Delia Gagliardi, Eleonora Canzio, Paola Orsini, Pasquale Conti, Vita Sinisi, Cosimo Maggiore, Maria Carla Santarsia, Giuseppina Lagioia, Giovanna Lupis, Isabella Roppa, Gaetano Scianatico, Daniela Mancini, Stefania P Corti, Giacomo Pietro Comi, Mattia Gentile, Delio Gagliardi
Early spinal muscular atrophy treatment following newborn screening: A 20-month review of the first Italian regional experience. Annals of clinical and translational neurology (2024)
Delia Gagliardi, Eleonora Canzio, Paola Orsini, Pasquale Conti, Vita Sinisi, Cosimo Maggiore, Maria Carla Santarsia, Giuseppina Lagioia, Giovanna Lupis, Isabella Roppa, Gaetano Scianatico, Daniela Mancini, Stefania P Corti, Giacomo Pietro Comi, Mattia Gentile, Delio Gagliardi
Early spinal muscular atrophy treatment following newborn screening: A 20-month review of the first Italian regional experience. Annals of clinical and translational neurology 11 (5) (2024)
Sandra Donkervoort, Martijn van de Locht, Dario Ronchi, Janine Reunert, Catriona A Mclean, Maha Saad Zaki, Rotem Orbach, Josine M de Winter, Stefan Conijn, Daan Hoomoedt, Osorio Lopes Abath Neto, Francesca Magri, Angela N Viaene, A Reghan Foley, Svetlana Gorokhova, Veronique Bolduc, Ying Hu, Nicole Acquaye, Laura Napoli, Julien H Park, Kalyan Immadisetty, Lee B Miles, Mona Essawi, Salar McModie, Leonardo F Ferreira, Simona Zanotti, Sarah B Neuhaus, Livija Medne, Nagham ElBagoury, Kory R Johnson, Yong Zhang, Nigel G Laing, Mark R Davis, Robert J Bryson-Richardson, Darren T Hwee, James J Hartman, Fady I Malik, Peter Michael Kekenes-Huskey, Giacomo Pietro Comi, Wessam E Sharaf-Eldin, Thorsten Marquardt, Gianina Ravenscroft, Carsten G Bonnemann, Coen A C Ottenheijm
Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease. Science translational medicine 16 (741) (2024)
Delia Gagliardi, Eleonora Canzio, Paola Orsini, Pasquale Conti, Vita Sinisi, Cosimo Maggiore, Maria Carla Santarsia, Giuseppina Lagioia, Giovanna Lupis, Isabella Roppa, Gaetano Scianatico, Daniela Mancini, Stefania P Corti, Giacomo Pietro Comi, Mattia Gentile, Delio Gagliardi
Early spinal muscular atrophy treatment following newborn screening: A 20-month review of the first Italian regional experience. Annals of clinical and translational neurology 11 (5) (2024)
Agustín Hidalgo-Gutiérrez, Jonathan Shintaku, Javier Ramón, Eliana Barriocanal-Casado, Alba Pesini, Russell P Saneto, Gloria Garrabou, Jose Cesar Milisenda, Ana Matas-Garcia, Laura Gort, Olatz Ugarteburu, Yue Gu, Lahari Koganti, Tian Wang, Saba Tadesse, Megi Meneri, Monica Sciacco, Shuang Wang, Kurenai Tanji, Marshall S Horwitz, Michael O Dorschner, Mahesh M Mansukhani, Giacomo Pietro Comi, Dario Ronchi, Ramon Ramon, Antonia Ribes, Frederic Tort, Michio Hirano
Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions Disease. Annals of neurology (2024)
Sandra Donkervoort, Martijn van de Locht, Dario Ronchi, Janine Reunert, Catriona A Mclean, Maha Saad Zaki, Rotem Orbach, Josine M de Winter, Stefan Conijn, Daan Hoomoedt, Osorio Lopes Abath Neto, Francesca Magri, Angela N Viaene, A Reghan Foley, Svetlana Gorokhova, Veronique Bolduc, Ying Hu, Nicole Acquaye, Laura Napoli, Julien H Park, Kalyan Immadisetty, Lee B Miles, Mona Essawi, Salar McModie, Leonardo F Ferreira, Simona Zanotti, Sarah B Neuhaus, Livija Medne, Nagham ElBagoury, Kory R Johnson, Yong Zhang, Nigel G Laing, Mark R Davis, Robert J Bryson-Richardson, Darren T Hwee, James J Hartman, Fady I Malik, Peter Michael Kekenes-Huskey, Giacomo Pietro Comi, Wessam E Sharaf-Eldin, Thorsten Marquardt, Gianina Ravenscroft, Carsten G Bonnemann, Coen A C Ottenheijm
Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease. Science translational medicine 16 (741) (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)
Delia Gagliardi, Eleonora Canzio, Paola Orsini, Pasquale Conti, Vita Sinisi, Cosimo Maggiore, Maria Carla Santarsia, Giuseppina Lagioia, Giovanna Lupis, Isabella Roppa, Gaetano Scianatico, Daniela Mancini, Stefania P Corti, Giacomo Pietro Comi, Mattia Gentile, Delio Gagliardi
Early spinal muscular atrophy treatment following newborn screening: A 20-month review of the first Italian regional experience. Annals of clinical and translational neurology 11 (5) (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)
Simona Zanotti, Francesca Magri, Sabrina Salani, Laura Napoli, Michela Ripolone, Dario Ronchi, Francesco Fortunato, Patrizia Ciscato, Daniele Velardo, Maria Grazia D'Angelo, Francesca Gualandi, Vincenzo Nigro, Monica Sciacco, Stefania Corti, Giacomo Pietro Comi, Daniela Piga
Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes. International journal of molecular sciences 24 (6) (2023)
Dario Ronchi, Manuela Garbellini, Francesca Magri, Francesca Menni, Megi Meneri, Maria Francesca Bedeschi, Robertino Dilena, Valeria Cecchetti, Irene Picciolli, Francesca Furlan, Valentina Polimeni, Sabrina Salani, Laura Pezzoli, Francesco Fortunato, Matteo Bellini, Daniela Piga, Michela Ripolone, Simona Zanotti, Laura Napoli, Patrizia Ciscato, Monica Sciacco, Giovanna Mangili, Fabio Mosca, Stefania Corti, Maria Iascone, Giacomo Pietro Comi
A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy. European journal of human genetics : EJHG (2023)
Martina Ricci, Gianpaolo Cicala, Anna Capasso, Giorgia Coratti, Stefania Fiori, Costanza Cutrona, Adele D'Amico, Valeria A Sansone, Claudio Bruno, Sonia Messina, Tiziana Mongini, Michela Coccia, Gabriele Siciliano, Elena Pegoraro, Riccardo Masson, Massimiliano Mirabella, Giacomo Pietro Comi, Stefania P Corti, Dario Ronchi, Lorenzo Maggi, Maria G D'Angelo, Veria Vacchiano, Chiara Ticci, Lucia Ruggiero, Lorenzo Verriello, Federica S Ricci, Angela L Berardinelli, Maria Antonietta Maioli, Matteo Garibaldi, Vincenzo Nigro, Stefano C Previtali, Maria Carmela Pera, Eduardo Tizzano, Marika Pane, Danilo Francesco Tiziano, Eugenio Mercuri, null null
Clinical phenotype of paediatric and adult patients with spinal muscular atrophy with 4 SMN2 copies: are they really all stable? Annals of neurology (2023)
Claudia Dosi, Anna Rubegni, Jacopo Baldacci, Daniele Galatolo, Stefano Doccini, Guja Astrea, Angela Berardinelli, Claudio Bruno, Giorgia Bruno, Giacomo Pietro Comi, Maria Alice Donati, Maria Teresa Dotti, Massimiliano Mirabella, Chiara Fiorillo, Fabio Giannini, Gian Luigi Gigli, Marina Grandis, Diego Lopergolo, Francesca Magri, Maria Antonietta Maioli, Alessandro Malandrini, Roberto Massa, Sabrina Matà, Federico Melani, Sonia Messina, Andrea Mignarri, Maurizio Moggio, Elena Maria Pennisi, Elena Pegoraro, Giulia Ricci, Michele Sacchini, Angelo Schenone, Simone Sampaolo, Monica Sciacco, Gabriele Siciliano, Giorgio Tasca, Paola Tonin, Rossella Tupler, Mariarosaria Valente, Nila Volpi, Denise Cassandrini, Filippo Maria Santorelli
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of RYR1 -Related Myopathies. Genes 14 (2) (2023)
Claudia Dosi, Anna Rubegni, Jacopo Baldacci, Daniele Galatolo, Stefano Doccini, Guja Astrea, Angela Berardinelli, Claudio Bruno, Giorgia Bruno, Giacomo Pietro Comi, Maria Alice Donati, Maria Teresa Dotti, Massimiliano Mirabella, Chiara Fiorillo, Fabio Giannini, Gian Luigi Gigli, Marina Grandis, Diego Lopergolo, Francesca Magri, Maria Antonietta Maioli, Alessandro Malandrini, Roberto Massa, Sabrina Matà, Federico Melani, Sonia Messina, Andrea Mignarri, Maurizio Moggio, Elena Maria Pennisi, Elena Pegoraro, Giulia Ricci, Michele Sacchini, Angelo Schenone, Simone Sampaolo, Monica Sciacco, Gabriele Siciliano, Giorgio Tasca, Paola Tonin, Rossella Tupler, Mariarosaria Valente, Nila Volpi, Denise Cassandrini, Filippo Maria Santorelli
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of RYR1 -Related Myopathies. Genes 14 (2) (2023)
Simona Zanotti, Francesca Magri, Sabrina Salani, Laura Napoli, Michela Ripolone, Dario Ronchi, Francesco Fortunato, Patrizia Ciscato, Daniele Velardo, Maria Grazia D'Angelo, Francesca Gualandi, Vincenzo Nigro, Monica Sciacco, Stefania Corti, Giacomo Pietro Comi, Daniela Piga
Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes. International journal of molecular sciences 24 (6) (2023)
Fabiana Ruggiero, Eleonora Zirone, Maria Takeko Molisso, Tiziana Carandini, Giorgio Giulio Fumagalli, Anna Margherita Pietroboni, Roberta Ferrucci, Edoardo Nicolò Aiello, Barbara Poletti, Vincenzo Silani, Giacomo Pietro Comi, Elio Scarpini, Sergio Barbieri, Andrea Arighi, Francesca Mameli
Telemedicine for cognitive impairment: a telephone survey of patients' experiences with neurological video consultation. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2023)
Claudia Dosi, Anna Rubegni, Jacopo Baldacci, Daniele Galatolo, Stefano Doccini, Guja Astrea, Angela Berardinelli, Claudio Bruno, Giorgia Bruno, Giacomo Pietro Comi, Maria Alice Donati, Maria Teresa Dotti, Massimiliano Mirabella, Chiara Fiorillo, Fabio Giannini, Gian Luigi Gigli, Marina Grandis, Diego Lopergolo, Francesca Magri, Maria Antonietta Maioli, Alessandro Malandrini, Roberto Massa, Sabrina Matà, Federico Melani, Sonia Messina, Andrea Mignarri, Maurizio Moggio, Elena Maria Pennisi, Elena Pegoraro, Giulia Ricci, Michele Sacchini, Angelo Schenone, Simone Sampaolo, Monica Sciacco, Gabriele Siciliano, Giorgio Tasca, Paola Tonin, Rossella Tupler, Mariarosaria Valente, Nila Volpi, Denise Cassandrini, Filippo Maria Santorelli
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of RYR1 -Related Myopathies. Genes 14 (2) (2023)
Simona Zanotti, Francesca Magri, Sabrina Salani, Laura Napoli, Michela Ripolone, Dario Ronchi, Francesco Fortunato, Patrizia Ciscato, Daniele Velardo, Maria Grazia D'Angelo, Francesca Gualandi, Vincenzo Nigro, Monica Sciacco, Stefania Corti, Giacomo Pietro Comi, Daniela Piga
Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes. International journal of molecular sciences 24 (6) (2023)
Claudia Dosi, Anna Rubegni, Jacopo Baldacci, Daniele Galatolo, Stefano Doccini, Guja Astrea, Angela Berardinelli, Claudio Bruno, Giorgia Bruno, Giacomo Pietro Comi, Maria Alice Donati, Maria Teresa Dotti, Massimiliano Mirabella, Chiara Fiorillo, Fabio Giannini, Gian Luigi Gigli, Marina Grandis, Diego Lopergolo, Francesca Magri, Maria Antonietta Maioli, Alessandro Malandrini, Roberto Massa, Sabrina Matà, Federico Melani, Sonia Messina, Andrea Mignarri, Maurizio Moggio, Elena Maria Pennisi, Elena Pegoraro, Giulia Ricci, Michele Sacchini, Angelo Schenone, Simone Sampaolo, Monica Sciacco, Gabriele Siciliano, Giorgio Tasca, Paola Tonin, Rossella Tupler, Mariarosaria Valente, Nila Volpi, Denise Cassandrini, Filippo Maria Santorelli
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype-Genotype Correlations: The Example of RYR1 -Related Myopathies. Genes 14 (2) (2023)
Arianna Manini, Delia Gagliardi, Megi Meneri, Sara Antognozzi, Roberto Del Bo, Cesa Scaglione, Giacomo Pietro Comi, Stefania P Corti, Dario Ronchi
Analysis of HTT CAG repeat expansion in Italian patients with amyotrophic lateral sclerosis. Annals of clinical and translational neurology 9 (11) (2022)
Elena Abati, Stefania Magri, Megi Meneri, Giulia Manenti, Daniele Velardo, Francesca Balistreri, Chiara Pisciotta, Paola Saveri, Nereo Bresolin, Giacomo Pietro Comi, Dario Ronchi, Davide Pareyson, Franco Taroni, Stefania Corti
Charcot-Marie-Tooth disease type 2F associated with biallelic HSPB1 mutations. Annals of clinical and translational neurology 8 (5) (2021)
Edoardo Monfrini, Filippo Cogiamanian, Sabrina Salani, Letizia Straniero, Gigliola Fagiolari, Manuela Garbellini, Emma Veronica Carsana, Linda Borellini, Fabio Biella, Maurizio Moggio, Nereo Bresolin, Stefania P Corti, Stefano Duga, Giacomo Pietro Comi, Massimo Aureli, Alessio di Fonzo
A Novel Homozygous VPS11 Variant May Cause Generalized Dystonia. Annals of neurology 89 (4) (2021)
Edoardo Monfrini, Dario Ronchi, Giulia Franco, Manuela Garbellini, Letizia Straniero, Elisa Scola, Federica Arienti, Stefano Duga, Giacomo Pietro Comi, Nereo Bresolin, Alessio di Fonzo
Late-onset leukoencephalopathy in a patient with recessive EARS2 mutations. Neurology. Genetics 6 (5) (2020)
Vincenzo Montano, Francesco Gruosso, Valerio Carelli, Giacomo Pietro Comi, Massimiliano Mirabella, Costanza Lamperti, Tiziana Mongini, Olimpia Musumeci, Serenella Servidei, Paola Tonin, Antonio Toscano, Angela Modenese, Guido Primiano, Maria Lucia Valentino, Sara Bortolani, Silvia Marchet, Megi Meneri, Graziana Tavilla, Gabriele Siciliano, Michelangelo Mancuso
Primary mitochondrial myopathy: Clinical features and outcome measures in 118 cases from Italy. Neurology. Genetics 6 (6) (2020)
Dario Ronchi, Edoardo Monfrini, Sara Bonato, Veronica Mancinelli, Claudia Cinnante, Sabrina Salani, Andreina Bordoni, Patrizia Ciscato, Francesco Fortunato, Marianna Villa, Alessio di Fonzo, Stefania Corti, Nereo Bresolin, Giacomo Pietro Comi
Dystonia-ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency. Annals of clinical and translational neurology 7 (5) (2020)
Luca Bello, Grazia D'Angelo, Matteo Villa, Aurora Fusto, Sara Vianello, Beatrice Merlo, Daniele Sabbatini, Andrea Barp, Sandra Gandossini, Francesca Magri, Giacomo Pietro Comi, Marina Pedemonte, Paola Tacchetti, Valentina Lanzillotta, Federica Trucco, Adele D'Amico, Enrico Bertini, Guja Astrea, Luisa Politano, Riccardo Masson, Giovanni Baranello, Emilio Albamonte, Elisa De Mattia, Fabrizio Rao, Valeria A Sansone, Previtali Stefano Carlo, Sonia Messina, Gian Luca Vita, Angela Berardinelli, Tiziana Mongini, Antonella Pini, Marika Pane, Eugenio Mercuri, Andrea Vianello, Claudio Bruno, Eric P Hoffman, Lauren Morgenroth, Heather Gordish-Dressman, Craig M McDonald, null null, Elena Pegoraro
Genetic modifiers of respiratory function in Duchenne muscular dystrophy. Annals of clinical and translational neurology 7 (5) (2020)
Gianluca Costamagna, Elena Abati, Nereo Bresolin, Giacomo Pietro Comi, Stefania P Corti
Management of patients with neuromuscular disorders at the time of the SARS-CoV-2 pandemic. Journal of neurology 268 (5) (2020)
Dario Ronchi, Changwei Liu, Leonardo Caporali, Daniela Piga, Hongzhi Li, Francesca Tagliavini, Maria Lucia Valentino, Maria Teresa Ferrò, Paola Bini, Li Zheng, Valerio Carelli, Binghui Shen, Giacomo Pietro Comi
Novel mutations in DNA2 associated with myopathy and mtDNA instability. Annals of clinical and translational neurology 6 (9) (2019)
Eleonora Mauri, Robertino Dilena, Antonio Boccazzi, Dario Ronchi, Daniela Piga, Fabio Triulzi, Delia Gagliardi, Roberta Brusa, Irene Faravelli, Nereo Bresolin, Francesca Magri, Stefania Corti, Giacomo Pietro Comi
Subclinical Leber's hereditary optic neuropathy with pediatric acute spinal cord onset: more than meets the eye. BMC neurology 18 (1) (2018)
Clementina Sitzia, Andrea Farini, Federica Colleoni, Francesco Fortunato, Paola Razini, Silvia Erratico, Alessandro Tavelli, Francesco Fabrizi, Marzia Belicchi, Mirella Meregalli, Giacomo Pietro Comi, Yvan Torrente
Improvement of endurance of DMD animal model using natural polyphenols. BioMed research international 2015 (2015)

Giacomo Pietro Comi.css-eqlu8i{font-size:small;padding-left:4px;} (Giacomo P Comi, Giacomo Comi)

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Giacomo Pietro Comi (Giacomo P Comi, Giacomo Comi)