Reply to: Double trouble progressive external ophthalmoplegia and Huntington's disease

by Massimiliano Filosto, Filippo M. Santorelli
Published 2016-06-01

Tackling Dysfunction of Mitochondrial Bioenergetics in the Brain

by Paola Zanfardino, Stefano Doccini, Filippo M. Santorelli, Vittoria Petruzzella
Published 2021-08-01

Management of Hereditary Spastic Paraplegia: A Systematic Review of the Literature

by Marta Bellofatto, Giovanna De Michele, Aniello Iovino, Alessandro Filla, Filippo M. Santorelli
Published 2019-01-01

Nutraceutical Screening in A Zebrafish Model of Muscular Dystrophy: Gingerol as A Possible Food Aid

by Rosario Licitra, Maria Marchese, Letizia Brogi, Baldassare Fronte, Letizia Pitto, Filippo M. Santorelli
Published 2021-03-01

Evolution of Epileptiform Activity in Zebrafish by Statistical-Based Integration of Electrophysiology and 2-Photon Ca²⁺ Imaging

by Olga Cozzolino, Federico Sicca, Emanuele Paoli, Francesco Trovato, Filippo M. Santorelli, Gian Michele Ratto, Maria Marchese
Published 2020-03-01

Social Preference Tests in Zebrafish: A Systematic Review

by Asahi Ogi, Asahi Ogi, Rosario Licitra, Valentina Naef, Maria Marchese, Baldassare Fronte, Angelo Gazzano, Filippo M. Santorelli
Published 2021-01-01

Fishing in the Cell Powerhouse: Zebrafish as A Tool for Exploration of Mitochondrial Defects Affecting the Nervous System

by Gianluca Fichi, Valentina Naef, Amilcare Barca, Giovanna Longo, Baldassare Fronte, Tiziano Verri, Filippo M. Santorelli, Maria Marchese, Vittoria Petruzzella
Published 2019-05-01

A novel mitochondrial tRNAAla gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington disease

by Massimiliano Filosto, Gaetana Lanzi, Claudia Nesti, Valentina Vielmi, Eleonora Marchina, Anna Galvagni, Silvia Giliani, Filippo M. Santorelli, Alessandro Padovani
Published 2016-03-01

Understanding Spreading Depression from Headache to Sudden Unexpected Death

by Olga Cozzolino, Maria Marchese, Francesco Trovato, Enrico Pracucci, Gian Michele Ratto, Maria Gabriella Buzzi, Federico Sicca, Filippo M. Santorelli
Published 2018-02-01

Expansion of the genetic landscape of ERLIN2‐related disorders

by Siddharth Srivastava, Angelica D’Amore, Julie S. Cohen, Lindsay C. Swanson, Ivana Ricca, Antonella Pini, Ali Fatemi, Darius Ebrahimi‐Fakhari, Filippo M. Santorelli
Published 2020-04-01

Bi-allelic variants in MTMR5/SBF1 cause Charcot-Marie-Tooth type 4B3 featuring mitochondrial dysfunction

by Beatrice Berti, Giovanna Longo, Francesco Mari, Stefano Doccini, Ilaria Piccolo, Maria Alice Donati, Francesca Moro, Renzo Guerrini, Filippo M. Santorelli, Vittoria Petruzzella
Published 2021-06-01

Epilepsy, Behavioral Abnormalities, and Physiological Comorbidities in Syntaxin-Binding Protein 1 (STXBP1) Mutant Zebrafish.

by Brian P Grone, Maria Marchese, Kyla R Hamling, Maneesh G Kumar, Christopher S Krasniak, Federico Sicca, Filippo M Santorelli, Manisha Patel, Scott C Baraban
Published 2016-01-01

Expanding the clinical and genetic heterogeneity of SPAX5

by Claudia Dosi, Daniele Galatolo, Anna Rubegni, Stefano Doccini, Rosa Pasquariello, Claudia Nesti, Federico Sicca, Melissa Barghigiani, Roberta Battini, Alessandra Tessa, Filippo M. Santorelli
Published 2020-04-01

Efficient Neuroprotective Rescue of Sacsin-Related Disease Phenotypes in Zebrafish

by Valentina Naef, Maria Marchese, Asahi Ogi, Gianluca Fichi, Daniele Galatolo, Rosario Licitra, Stefano Doccini, Tiziano Verri, Francesco Argenton, Federica Morani, Filippo M. Santorelli
Published 2021-08-01

The Networks of Genes Encoding Palmitoylated Proteins in Axonal and Synaptic Compartments Are Affected in PPT1 Overexpressing Neuronal-Like Cells

by Francesco Pezzini, Marzia Bianchi, Salvatore Benfatto, Francesca Griggio, Stefano Doccini, Rosalba Carrozzo, Arvydas Dapkunas, Massimo Delledonne, Filippo M. Santorelli, Maciej M. Lalowski, Alessandro Simonati
Published 2017-08-01

Reversible Valproate-Induced Subacute Encephalopathy Associated With a MT-ATP8 Variant in the Mitochondrial Genome

by Giovanna De Michele, Pierpaolo Sorrentino, Claudia Nesti, Anna Rubegni, Lucia Ruggiero, Silvio Peluso, Antonella Antenora, Mario Quarantelli, Alessandro Filla, Giuseppe De Michele, Filippo M. Santorelli
Published 2018-08-01

Congenital myopathies: clinical phenotypes and new diagnostic tools

by Denise Cassandrini, Rosanna Trovato, Anna Rubegni, Sara Lenzi, Chiara Fiorillo, Jacopo Baldacci, Carlo Minetti, Guja Astrea, Claudio Bruno, Filippo M. Santorelli, the Italian Network on Congenital Myopathies
Published 2017-11-01

Application of a Clinical Workflow May Lead to Increased Diagnostic Precision in Hereditary Spastic Paraplegias and Cerebellar Ataxias: A Single Center Experience

by Vittorio Riso, Salvatore Rossi, Tommaso F. Nicoletti, Alessandra Tessa, Lorena Travaglini, Ginevra Zanni, Chiara Aiello, Alessia Perna, Melissa Barghigiani, Maria Grazia Pomponi, Filippo M. Santorelli, Gabriella Silvestri
Published 2021-02-01

Somatic overgrowth predisposes to seizures in autism spectrum disorders.

by Giulia Valvo, Sara Baldini, Francesca Brachini, Fabio Apicella, Angela Cosenza, Anna Rita Ferrari, Renzo Guerrini, Filippo Muratori, Maria Francesca Romano, Filippo M Santorelli, Raffaella Tancredi, Federico Sicca
Published 2013-01-01

Cerebello-Cortical Alterations Linked to Cognitive and Social Problems in Patients With Spastic Paraplegia Type 7: A Preliminary Study

by Michela Lupo, Giusy Olivito, Giusy Olivito, Silvia Clausi, Silvia Clausi, Libera Siciliano, Vittorio Riso, Marco Bozzali, Marco Bozzali, Filippo M. Santorelli, Gabriella Silvestri, Maria Leggio, Maria Leggio
Published 2020-02-01