Editorial for the Genetics of Muscular Dystrophies from the Pathogenesis to Gene Therapy Special Issue

por Politano, Luisa, Santorelli, Filippo M.
Publicado 2023

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

por Filosto, Massimiliano, Santorelli, Filippo M.
Publicado 2016

Migraine headache: a review of the molecular genetics of a common disorder

por Di Lorenzo, Cherubino, Grieco, Gaetano S., Santorelli, Filippo M.
Publicado 2012

Tackling Dysfunction of Mitochondrial Bioenergetics in the Brain

por Zanfardino, Paola, Doccini, Stefano, Santorelli, Filippo M., Petruzzella, Vittoria
Publicado 2021

Molecular genotype in migraine

por Di Lorenzo, Cherubino, Grieco, Gaetano S, Rubegni, Anna, Santorelli, Filippo M
Publicado 2015

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

por Bellofatto, Marta, De Michele, Giovanna, Iovino, Aniello, Filla, Alessandro, Santorelli, Filippo M.
Publicado 2019

Torin1 restores proliferation rate in Charcot-Marie-Tooth disease type 2A cells harbouring MFN2 (mitofusin 2) mutation

por Zanfardino, Paola, Amati, Alessandro, Petracca, Easter Anna, Santorelli, Filippo M., Petruzzella, Vittoria
Publicado 2022

Molecular Investigation of Pediatric Portuguese Patients with Sensorineural Hearing Loss

por Nogueira, Célia, Coutinho, Miguel, Pereira, Cristina, Tessa, Alessandra, Santorelli, Filippo M., Vilarinho, Laura
Publicado 2011

Novel SPAST deletion and reduced DPY30 expression in a Spastic Paraplegia type 4 kindred

por Racis, Loretta, Storti, Eugenia, Pugliatti, Maura, Agnetti, Virgilio, Tessa, Alessandra, Santorelli, Filippo M
Publicado 2014

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

por Licitra, Rosario, Marchese, Maria, Brogi, Letizia, Fronte, Baldassare, Pitto, Letizia, Santorelli, Filippo M.
Publicado 2021

Syndromes associated with mitochondrial DNA depletion

por Nogueira, Célia, Almeida, Ligia S, Nesti, Claudia, Pezzini, Ilaria, Videira, Arnaldo, Vilarinho, Laura, Santorelli, Filippo M
Publicado 2014

Social Preference Tests in Zebrafish: A Systematic Review

por Ogi, Asahi, Licitra, Rosario, Naef, Valentina, Marchese, Maria, Fronte, Baldassare, Gazzano, Angelo, Santorelli, Filippo M.
Publicado 2021

Dopamine-agonist responsive Parkinsonism in a patient with the SANDO syndrome caused by POLG mutation

por Bandettini di Poggio, Monica, Nesti, Claudia, Bruno, Claudio, Meschini, Maria Chiara, Schenone, Angelo, Santorelli, Filippo M
Publicado 2013

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

por Cozzolino, Olga, Sicca, Federico, Paoli, Emanuele, Trovato, Francesco, Santorelli, Filippo M., Ratto, Gian Michele, Marchese, Maria
Publicado 2020

Alpha-sarcoglycanopathy presenting as myalgia and hyperCKemia in two adults with a long-term follow-up. Case reports

por Dosi, Claudia, Rubegni, Anna, Cassandrini, Denise, Malandrini, Alessandro, Maggi, Lorenzo, Donati, M. Alice, Santorelli, Filippo M.
Publicado 2020

The Revolution in Migraine Genetics: From Aching Channels Disorders to a Next-Generation Medicine

por Pellacani, Simona, Sicca, Federico, Di Lorenzo, Cherubino, Grieco, Gaetano S., Valvo, Giulia, Cereda, Cristina, Rubegni, Anna, Santorelli, Filippo M.
Publicado 2016

Swimming in Deep Water: Zebrafish Modeling of Complicated Forms of Hereditary Spastic Paraplegia and Spastic Ataxia

por Naef, Valentina, Mero, Serena, Fichi, Gianluca, D'Amore, Angelica, Ogi, Asahi, Gemignani, Federica, Santorelli, Filippo M., Marchese, Maria
Publicado 2019

Short-Term Effects of Human versus Bovine Sialylated Milk Oligosaccharide Microinjection on Zebrafish Larvae Survival, Locomotor Behavior and Gene Expression

por Licitra, Rosario, Naef, Valentina, Marchese, Maria, Damiani, Devid, Ogi, Asahi, Doccini, Stefano, Fronte, Baldassare, Yan, Jingyu, Santorelli, Filippo M.
Publicado 2023

Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screening

por Marchese, Maria, Conti, Valerio, Valvo, Giulia, Moro, Francesca, Muratori, Filippo, Tancredi, Raffaella, Santorelli, Filippo M, Guerrini, Renzo, Sicca, Federico
Publicado 2014

A novel mitochondrial tRNA(Ala) gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington disease

por Filosto, Massimiliano, Lanzi, Gaetana, Nesti, Claudia, Vielmi, Valentina, Marchina, Eleonora, Galvagni, Anna, Giliani, Silvia, Santorelli, Filippo M., Padovani, Alessandro
Publicado 2016