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

অনুযায়ী Filosto, Massimiliano, Santorelli, Filippo M.
প্রকাশিত Mol Genet Metab Rep (2016)

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

অনুযায়ী Di Lorenzo, Cherubino, Grieco, Gaetano S., Santorelli, Filippo M.
প্রকাশিত 2012

STUB1‐Related Ataxias: A Challenging Diagnosis

অনুযায়ী Cocozza, Sirio, Santorelli, Filippo M., De Michele, Giuseppe
প্রকাশিত Mov Disord Clin Pract (2020)

Molecular genotype in migraine

অনুযায়ী Di Lorenzo, Cherubino, Grieco, Gaetano S, Rubegni, Anna, Santorelli, Filippo M
প্রকাশিত J Headache Pain (2015)

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

অনুযায়ী Bellofatto, Marta, De Michele, Giovanna, Iovino, Aniello, Filla, Alessandro, Santorelli, Filippo M.
প্রকাশিত Front Neurol (2019)

Molecular Investigation of Pediatric Portuguese Patients with Sensorineural Hearing Loss

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

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

অনুযায়ী Racis, Loretta, Storti, Eugenia, Pugliatti, Maura, Agnetti, Virgilio, Tessa, Alessandra, Santorelli, Filippo M
প্রকাশিত 2014

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

অনুযায়ী Licitra, Rosario, Marchese, Maria, Brogi, Letizia, Fronte, Baldassare, Pitto, Letizia, Santorelli, Filippo M.
প্রকাশিত Nutrients (2021)

About the “Pathological” Role of the mtDNA T3308C Mutation…

অনুযায়ী Rocha, Hugo, Flores, Carlos, Campos, Yolanda, Arenas, Joaquín, Vilarinho, Laura, Santorelli, Filippo M., Torroni, Antonio
প্রকাশিত 1999

Syndromes associated with mitochondrial DNA depletion

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

Social Preference Tests in Zebrafish: A Systematic Review

অনুযায়ী Ogi, Asahi, Licitra, Rosario, Naef, Valentina, Marchese, Maria, Fronte, Baldassare, Gazzano, Angelo, Santorelli, Filippo M.
প্রকাশিত Front Vet Sci (2021)

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

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

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

অনুযায়ী Cozzolino, Olga, Sicca, Federico, Paoli, Emanuele, Trovato, Francesco, Santorelli, Filippo M., Ratto, Gian Michele, Marchese, Maria
প্রকাশিত Cells (2020)

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

অনুযায়ী Dosi, Claudia, Rubegni, Anna, Cassandrini, Denise, Malandrini, Alessandro, Maggi, Lorenzo, Donati, M. Alice, Santorelli, Filippo M.
প্রকাশিত Acta Myol (2020)

Heterologous Expression in Yeast of Human Ornithine Carriers ORNT1 and ORNT2 and of ORNT1 Alleles Implicated in HHH Syndrome in Humans

অনুযায়ী Doimo, Mara, Lopreiato, Raffaele, Basso, Valentina, Bortolotto, Raissa, Tessa, Alessandra, Santorelli, Filippo M., Trevisson, Eva, Salviati, Leonardo
প্রকাশিত JIMD Rep (2015)

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

অনুযায়ী Pellacani, Simona, Sicca, Federico, Di Lorenzo, Cherubino, Grieco, Gaetano S., Valvo, Giulia, Cereda, Cristina, Rubegni, Anna, Santorelli, Filippo M.
প্রকাশিত Front Cell Neurosci (2016)

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

অনুযায়ী Naef, Valentina, Mero, Serena, Fichi, Gianluca, D'Amore, Angelica, Ogi, Asahi, Gemignani, Federica, Santorelli, Filippo M., Marchese, Maria
প্রকাশিত Front Neurosci (2019)

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

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

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

অনুযায়ী Filosto, Massimiliano, Lanzi, Gaetana, Nesti, Claudia, Vielmi, Valentina, Marchina, Eleonora, Galvagni, Anna, Giliani, Silvia, Santorelli, Filippo M., Padovani, Alessandro
প্রকাশিত Mol Genet Metab Rep (2016)

Learning disabilities in neuromuscular disorders: a springboard for adult life

অনুযায়ী Astrea, Guja, Battini, Roberta, Lenzi, Sara, Frosini, Silvia, Bonetti, Silvia, Moretti, Elena, Perazza, Silvia, Santorelli, Filippo M., Pecini, Chiara
প্রকাশিত Acta Myol (2016)