Publications by authors named "Enrico Silvio Bertini"

15Publications

Novel ACTA1 mutation causes late-presenting nemaline myopathy with unusual dark cores.

Authors:
Matteo Garibaldi Fabiana Fattori Elena Maria Pennisi Gioia Merlonghi Laura Fionda Fiammetta Vanoli Luca Leonardi Elisabetta Bucci Stefania Morino Andrea Micaloni Tommaso Tartaglione Bas Uijterwijk Martijn Zierikzee Coen Ottenheijm Enrico Silvio Bertini Antonella Stoppacciaro Salvatore Raffa Marco Salvetti Giovanni Antonini

Neuromuscul Disord 2020 Nov 30. Epub 2020 Nov 30.

Neuromuscular and Rare Disease Centre, Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), SAPIENZA University of Rome, Sant'Andrea Hospital, Rome, Italy.

View Article and Find Full Text PDF
November 2020

Ferroptosis in Friedreich's Ataxia: A Metal-Induced Neurodegenerative Disease.

Authors:
Piergiorgio La Rosa Sara Petrillo Maria Teresa Fiorenza Enrico Silvio Bertini Fiorella Piemonte

Biomolecules 2020 Nov 13;10(11). Epub 2020 Nov 13.

Unit of Muscular and Neurodegenerative Diseases, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.

View Article and Find Full Text PDF
November 2020

HDAC inhibitors tune miRNAs in extracellular vesicles of dystrophic muscle-resident mesenchymal cells.

Authors:
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

EMBO Rep 2020 09 5;21(9):e50863. Epub 2020 Aug 5.

Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Fondazione Santa Lucia, Rome, Italy.

View Article and Find Full Text PDF
September 2020

Oxidative Stress in DNA Repeat Expansion Disorders: A Focus on NRF2 Signaling Involvement.

Authors:
Piergiorgio La Rosa Sara Petrillo Enrico Silvio Bertini Fiorella Piemonte

Biomolecules 2020 05 1;10(5). Epub 2020 May 1.

Unit of Muscular and Neurodegenerative Diseases, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.

View Article and Find Full Text PDF
May 2020

TUBB Variants Underlying Different Phenotypes Result in Altered Vesicle Trafficking and Microtubule Dynamics.

Authors:
Antonella Sferra Stefania Petrini Emanuele Bellacchio Francesco Nicita Francesco Scibelli Maria Lisa Dentici Paolo Alfieri Gianluca Cestra Enrico Silvio Bertini Ginevra Zanni

Int J Mol Sci 2020 Feb 18;21(4). Epub 2020 Feb 18.

Unit of Neuromuscular and Neurodegenerative Disorders, Department Neurosciences, Bambino Gesù Children's Hospital, IRCCS 00146 Rome, Italy.

View Article and Find Full Text PDF
February 2020

The NRF2 Signaling Network Defines Clinical Biomarkers and Therapeutic Opportunity in Friedreich's Ataxia.

Authors:
Piergiorgio La Rosa Enrico Silvio Bertini Fiorella Piemonte

Int J Mol Sci 2020 01 30;21(3). Epub 2020 Jan 30.

Unit of Muscular and Neurodegenerative Diseases, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.

View Article and Find Full Text PDF
January 2020

Targeting NRF2 for the Treatment of Friedreich's Ataxia: A Comparison among Drugs.

Authors:
Sara Petrillo Jessica D'Amico Piergiorgio La Rosa Enrico Silvio Bertini Fiorella Piemonte

Int J Mol Sci 2019 Oct 21;20(20). Epub 2019 Oct 21.

Unit of Muscular and Neurodegenerative Diseases, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.

View Article and Find Full Text PDF
October 2019

Diagnosis of 'possible' mitochondrial disease: an existential crisis.

Authors:
Sumit Parikh Amel Karaa Amy Goldstein Enrico Silvio Bertini Patrick F Chinnery John Christodoulou Bruce H Cohen Ryan L Davis Marni J Falk Carl Fratter Rita Horvath Mary Kay Koenig Michaelangelo Mancuso Shana McCormack Elizabeth M McCormick Robert McFarland Victoria Nesbitt Manuel Schiff Hannah Steele Silvia Stockler Carolyn Sue Mark Tarnopolsky David R Thorburn Jerry Vockley Shamima Rahman

J Med Genet 2019 03 25;56(3):123-130. Epub 2019 Jan 25.

Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London, UK.

View Article and Find Full Text PDF
March 2019

Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD.

Authors:
Matteo Garibaldi Fabiana Fattori Carlo Augusto Bortolotti Guy Brochier Clemence Labasse Margherita Verardo Emilia Servian-Morilla Lara Gibellini Marcello Pinti Giulia Di Rocco Salvatore Raffa Elena Maria Pennisi Enrico Silvio Bertini Carmen Paradas Norma Beatriz Romero Giovanni Antonini

Acta Neuropathol Commun 2018 09 13;6(1):94. Epub 2018 Sep 13.

Unit of Neuromuscular Diseases, Department of Neurology, Mental Health and Sensory Organs (NESMOS), SAPIENZA University of Rome, Sant'Andrea Hospital, Rome, Italy.

View Article and Find Full Text PDF
September 2018

Serum uric acid in Friedreich Ataxia.

Authors:
Tommaso Schirinzi Gessica Vasco Ginevra Zanni Sara Petrillo Fiorella Piemonte Enrico Castelli Enrico Silvio Bertini

Clin Biochem 2018 Apr 2;54:139-141. Epub 2018 Feb 2.

Department of Neurosciences and Neurorehabilitation, IRCCS Bambino Gesù Children Hospital, Rome, Italy.

View Article and Find Full Text PDF
April 2018

A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing.

Authors:
Marina Macchiaiolo Sabina Barresi Francesco Cecconi Ginevra Zanni Marcello Niceta Emanuele Bellacchio Giacomo Lazzarino Angela Maria Amorini Enrico Silvio Bertini Salvatore Rizza Benedetta Contardi Marco Tartaglia Andrea Bartuli

Ital J Pediatr 2017 Aug 2;43(1):65. Epub 2017 Aug 2.

Genetics and Rare Diseases, Research Division, Bambino Gesù Children's Hospital, Piazza Sant'Onofrio 4, 00164, Rome, Italy.

View Article and Find Full Text PDF
August 2017

Reduced steroidogenesis in patients with PCDH19-female limited epilepsy.

Authors:
Marina Trivisano Chiara Lucchi Cecilia Rustichelli Alessandra Terracciano Raffaella Cusmai Grazia Maria Ubertini Germana Giannone Enrico Silvio Bertini Federico Vigevano Jozef Gecz Giuseppe Biagini Nicola Specchio

Epilepsia 2017 06 4;58(6):e91-e95. Epub 2017 May 4.

Neurology Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

View Article and Find Full Text PDF
June 2017

Blood malignancies presenting with mutations at equivalent residues in RUNX1-2 suggest a common leukemogenic pathway.

Authors:
Michele Callea Fabiana Fattori Enrico Silvio Bertini Francisco Cammarata-Scalisi Francesco Callea Emanuele Bellacchio

Leuk Lymphoma 2017 08 16;58(8):2002-2004. Epub 2017 Jan 16.

e Research Laboratories, Bambino Gesù Children's Hospital, IRCCS , Rome , Italy.

View Article and Find Full Text PDF
August 2017

Mutation of CHRNA2 in a family with benign familial infantile seizures: Potential role of nicotinic acetylcholine receptor in various phenotypes of epilepsy.

Authors:
Marina Trivisano Alessandra Terracciano Teresa Milano Simona Cappelletti Nicola Pietrafusa Enrico Silvio Bertini Federico Vigevano Nicola Specchio

Epilepsia 2015 May 3;56(5):e53-7. Epub 2015 Apr 3.

Division of Neurology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

View Article and Find Full Text PDF
May 2015

FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletion.

Authors:
Ginevra Zanni Sabina Barresi Lorena Travaglini Laura Bernardini Teresa Rizza Maria Cristina Digilio Eugenio Mercuri Stefano Cianfarani Massimiliano Valeriani Alessandro Ferraris Letizia Da Sacco Antonio Novelli Enza Maria Valente Bruno Dallapiccola Enrico Silvio Bertini

Neurogenetics 2011 Aug 12;12(3):241-5. Epub 2011 Apr 12.

Unit of Molecular Medicine, Departement of Neurosciences, Bambino Gesù Pediatric Hospital, 4 Piazza S. Onofrio, 00165 Rome, Italy.

View Article and Find Full Text PDF
August 2011