Bibliotecas PUC-SP - Busca Integrada

Human induced pluripotent stem cell models for the study and treatment of Duchenne and Becker muscular dystrophies

Por Daniela Piga, Sabrina Salani, Francesca Magri, Roberta Brusa, Eleonora Mauri, Giacomo P. Comi, Nereo Bresolin, Stefania Corti
Publicado no Therapeutic Advances in Neurological Disorders (2019-05-01)

Mitochondrial dysfunction in Parkinsonian mesenchymal stem cells impairs differentiation

Por Plamena R. Angelova, Mario Barilani, Christopher Lovejoy, Marta Dossena, Mariele Viganò, Agostino Seresini, Daniela Piga, Sonia Gandhi, Gianni Pezzoli, Andrey Y. Abramov, Lorenza Lazzari
Publicado no Redox Biology (2018-04-01)

Subclinical Leber’s hereditary optic neuropathy with pediatric acute spinal cord onset: more than meets the eye

Por 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 P. Comi
Publicado no BMC Neurology (2018-12-01)

Ischemic optic neuropathy as first presentation in patient with m.3243 A > G MELAS classic mutation

Por Simone Scarcella, Laura Dell’Arti, Delia Gagliardi, Francesca Magri, Alessandra Govoni, Daniele Velardo, Claudia Mainetti, Valeria Minorini, Dario Ronchi, Daniela Piga, Giacomo Pietro Comi, Stefania Corti, Megi Meneri
Publicado no BMC Neurology (2023-04-01)

Novel mutations in DNA2 associated with myopathy and mtDNA instability

Por 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
Publicado no Annals of Clinical and Translational Neurology (2019-09-01)

A novel RRM2B mutation associated with mitochondrial DNA depletion syndrome

Por Monica Fumagalli, Dario Ronchi, Maria Francesca Bedeschi, Arianna Manini, Gloria Cristofori, Fabio Mosca, Robertino Dilena, Monica Sciacco, Simona Zanotti, Daniela Piga, Gianluigi Ardissino, Fabio Triulzi, Stefania Corti, Giacomo P. Comi, Leonardo Salviati
Publicado no Molecular Genetics and Metabolism Reports (2022-09-01)

Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes

Por 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
Publicado no International Journal of Molecular Sciences (2023-03-01)

Stormorken Syndrome Caused by a p.R304W STIM1 Mutation: The First Italian Patient and a Review of the Literature

Por Oscar Borsani, Daniela Piga, Stefania Costa, Alessandra Govoni, Francesca Magri, Andrea Artoni, Claudia M. Cinnante, Gigliola Fagiolari, Patrizia Ciscato, Maurizio Moggio, Nereo Bresolin, Nereo Bresolin, Giacomo P. Comi, Giacomo P. Comi, Stefania Corti, Stefania Corti
Publicado no Frontiers in Neurology (2018-10-01)

Prominent muscle involvement in a familial form of mitochondrial disease due to a COA8 variant

Por Martina Rimoldi, Francesca Magri, Sara Antognozzi, Michela Ripolone, Sabrina Salani, Daniela Piga, Letizia Bertolasi, Simona Zanotti, Patrizia Ciscato, Francesco Fortunato, Maurizio Moggio, Stefania Corti, Stefania Corti, Giacomo Pietro Comi, Giacomo Pietro Comi, Dario Ronchi, Dario Ronchi
Publicado no Frontiers in Genetics (2023-11-01)

Case Report: Rare Homozygous RNASEH1 Mutations Associated With Adult-Onset Mitochondrial Encephalomyopathy and Multiple Mitochondrial DNA Deletions

Por Arianna Manini, Leonardo Caporali, Megi Meneri, Megi Meneri, Simona Zanotti, Daniela Piga, Ignazio Giuseppe Arena, Stefania Corti, Stefania Corti, Antonio Toscano, Giacomo Pietro Comi, Giacomo Pietro Comi, Olimpia Musumeci, Valerio Carelli, Valerio Carelli, Dario Ronchi, Dario Ronchi
Publicado no Frontiers in Genetics (2022-05-01)

Early Findings in Neonatal Cases of RYR1–Related Congenital Myopathies

Por Eleonora Mauri, Daniela Piga, Alessandra Govoni, Roberta Brusa, Serena Pagliarani, Michela Ripolone, Robertino Dilena, Claudia Cinnante, Monica Sciacco, Denise Cassandrini, Vincenzo Nigro, Nereo Bresolin, Nereo Bresolin, Stefania Corti, Stefania Corti, Giacomo P. Comi, Giacomo P. Comi, Francesca Magri
Publicado no Frontiers in Neurology (2021-06-01)

Case report: A novel ACTA1 variant in a patient with nemaline rods and increased glycogen deposition

Por Daniela Piga, Martina Rimoldi, Martina Rimoldi, Francesca Magri, Simona Zanotti, Laura Napoli, Michela Ripolone, Serena Pagliarani, Patrizia Ciscato, Daniele Velardo, Adele D’Amico, Enrico Bertini, Giacomo Pietro Comi, Giacomo Pietro Comi, Dario Ronchi, Dario Ronchi, Stefania Corti, Stefania Corti
Publicado no Frontiers in Neurology (2024-03-01)

TYMP Variants Result in Late-Onset Mitochondrial Myopathy With Altered Muscle Mitochondrial DNA Homeostasis

Por Dario Ronchi, Dario Ronchi, Leonardo Caporali, Giulia Francesca Manenti, Megi Meneri, Susan Mohamed, Andreina Bordoni, Francesca Tagliavini, Manuela Contin, Manuela Contin, Daniela Piga, Monica Sciacco, Cristina Saetti, Cristina Saetti, Valerio Carelli, Valerio Carelli, Giacomo Pietro Comi, Giacomo Pietro Comi
Publicado no Frontiers in Genetics (2020-08-01)

Can Intestinal Pseudo-Obstruction Drive Recurrent Stroke-Like Episodes in Late-Onset MELAS Syndrome? A Case Report and Review of the Literature

Por Delia Gagliardi, Eleonora Mauri, Francesca Magri, Daniele Velardo, Megi Meneri, Elena Abati, Roberta Brusa, Irene Faravelli, Daniela Piga, Dario Ronchi, Fabio Triulzi, Lorenzo Peverelli, Monica Sciacco, Nereo Bresolin, Nereo Bresolin, Giacomo Pietro Comi, Giacomo Pietro Comi, Stefania Corti, Stefania Corti, Stefania Corti, Alessandra Govoni, Alessandra Govoni
Publicado no Frontiers in Neurology (2019-01-01)