The Potential of iPSCs for the Treatment of Premature Aging Disorders

by Claudia Compagnucci, Enrico Bertini
Published 2017-11-01

Microtubule Dysfunction: A Common Feature of Neurodegenerative Diseases

by Antonella Sferra, Francesco Nicita, Enrico Bertini
Published 2020-10-01

Mitochondrial Abnormalities in Induced Pluripotent Stem Cells-Derived Motor Neurons from Patients with Riboflavin Transporter Deficiency

by Fiorella Colasuonno, Enrico Bertini, Marco Tartaglia, Claudia Compagnucci, Sandra Moreno
Published 2020-12-01

Friedreich ataxia in COVID-19 time: current impact and future possibilities

by Tommaso Schirinzi, Andrea Sancesario, Enrico Castelli, Enrico Bertini, Gessica Vasco
Published 2021-01-01

Mitochondrial Dynamics: Molecular Mechanisms, Related Primary Mitochondrial Disorders and Therapeutic Approaches

by Michela Di Nottia, Daniela Verrigni, Alessandra Torraco, Teresa Rizza, Enrico Bertini, Rosalba Carrozzo
Published 2021-02-01

Expanding the Clinical and Mutational Spectrum of the <i>PLP1</i>-Related Hypomyelination of Early Myelinated Structures (HEMS)

by Francesco Nicita, Chiara Aiello, Gessica Vasco, Massimiliano Valeriani, Fabrizia Stregapede, Andrea Sancesario, Michela Armando, Enrico Bertini
Published 2021-01-01

Oligophrenin-1 (OPHN1), a gene involved in X-linked intellectual disability, undergoes RNA editing and alternative splicing during human brain development.

by Sabina Barresi, Sara Tomaselli, Alekos Athanasiadis, Federica Galeano, Franco Locatelli, Enrico Bertini, Ginevra Zanni, Angela Gallo
Published 2014-01-01

Nrf2-Inducers Counteract Neurodegeneration in Frataxin-Silenced Motor Neurons: Disclosing New Therapeutic Targets for Friedreich’s Ataxia

by Sara Petrillo, Emanuela Piermarini, Anna Pastore, Gessica Vasco, Tommaso Schirinzi, Rosalba Carrozzo, Enrico Bertini, Fiorella Piemonte
Published 2017-10-01

Dissecting the Role of PCDH19 in Clustering Epilepsy by Exploiting Patient-Specific Models of Neurogenesis

by Rossella Borghi, Valentina Magliocca, Stefania Petrini, Libenzio Adrian Conti, Sandra Moreno, Enrico Bertini, Marco Tartaglia, Claudia Compagnucci
Published 2021-06-01

Corticospinal tract damage in HHH syndrome: a metabolic cause of hereditary spastic paraplegia

by Giorgia Olivieri, Stefano Pro, Daria Diodato, Matteo Di Capua, Daniela Longo, Diego Martinelli, Enrico Bertini, Carlo Dionisi-Vici
Published 2019-08-01

Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias

by Giacomo Garone, Alessandro Capuano, Lorena Travaglini, Federica Graziola, Fabrizia Stregapede, Ginevra Zanni, Federico Vigevano, Enrico Bertini, Francesco Nicita
Published 2020-05-01

Altered cytoskeletal arrangement in induced pluripotent stem cells and motor neurons from patients with riboflavin transporter deficiency

by Alessia Niceforo, Chiara Marioli, Fiorella Colasuonno, Stefania Petrini, Keith Massey, Marco Tartaglia, Enrico Bertini, Sandra Moreno, Claudia Compagnucci
Published 2021-02-01

A Recurrent Pathogenic Variant of INPP5K Underlies Autosomal Recessive Congenital Muscular Dystrophy With Cataracts and Intellectual Disability: Evidence for a Founder Effect in So...

by Adele D’Amico, Adele D’Amico, Fabiana Fattori, Fabiana Fattori, Francesco Nicita, Francesco Nicita, Sabina Barresi, Giorgio Tasca, Margherita Verardo, Simone Pizzi, Isabella Moroni, Francesca De Mitri, Annalia Frongia, Marika Pane, Eugenio Mercuri, Marco Tartaglia, Enrico Bertini, Enrico Bertini
Published 2020-09-01

Mitochondrial and Peroxisomal Alterations Contribute to Energy Dysmetabolism in Riboflavin Transporter Deficiency

by Fiorella Colasuonno, Alessia Niceforo, Chiara Marioli, Anna Fracassi, Fabrizia Stregapede, Keith Massey, Marco Tartaglia, Enrico Bertini, Claudia Compagnucci, Sandra Moreno
Published 2020-01-01

Frataxin Deficiency Leads to Reduced Expression and Impaired Translocation of NF-E2-Related Factor (Nrf2) in Cultured Motor Neurons

by Enrico Bertini, Barbara Carletti, Sara Petrillo, Emanuela Piermarini, Chiara Priori, Lorena Travaglini, Stefania Petrini, Valentina D&#039;Oria, Fiorella Piemonte
Published 2013-04-01

Functional and Gait Assessment in Children and Adolescents Affected by Friedreich's Ataxia: A One-Year Longitudinal Study.

by Gessica Vasco, Simone Gazzellini, Maurizio Petrarca, Maria Luisa Lispi, Alessandra Pisano, Marco Zazza, Gessica Della Bella, Enrico Castelli, Enrico Bertini
Published 2016-01-01

Developmental splicing deregulation in leukodystrophies related to EIF2B mutations.

by Aurélia Huyghe, Laetitia Horzinski, Alain Hénaut, Marina Gaillard, Enrico Bertini, Raphael Schiffmann, Diana Rodriguez, Yann Dantal, Odile Boespflug-Tanguy, Anne Fogli
Published 2012-01-01

One-year outcome of coenzyme Q10 supplementation in ADCK3 ataxia (ARCA2)

by Tommaso Schirinzi, Martina Favetta, Alberto Romano, Andrea Sancesario, Susanna Summa, Silvia Minosse, Ginevra Zanni, Enrico Castelli, Enrico Bertini, Maurizio Petrarca, Gessica Vasco
Published 2019-12-01

Frataxin Silencing Inactivates Mitochondrial Complex I in NSC34 Motoneuronal Cells and Alters Glutathione Homeostasis

by Barbara Carletti, Emanuela Piermarini, Giulia Tozzi, Lorena Travaglini, Alessandra Torraco, Anna Pastore, Marco Sparaco, Sara Petrillo, Rosalba Carrozzo, Enrico Bertini, Fiorella Piemonte
Published 2014-04-01

Cardiovascular Involvement in Pediatric Laminopathies. Report of Six Patients and Literature Revision

by Anwar Baban, Marianna Cicenia, Monia Magliozzi, Maria Gnazzo, Nicoletta Cantarutti, Massimo Stefano Silvetti, Rachele Adorisio, Bruno Dallapiccola, Enrico Bertini, Antonio Novelli, Fabrizio Drago
Published 2020-07-01