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

Yazar: Filosto, Massimiliano, Santorelli, Filippo M.
Yayımlandı Mol Genet Metab Rep (2016)

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

Yazar: Di Lorenzo, Cherubino, Grieco, Gaetano S., Santorelli, Filippo M.
Baskı/Yayın Bilgisi 2012

STUB1‐Related Ataxias: A Challenging Diagnosis

Yazar: Cocozza, Sirio, Santorelli, Filippo M., De Michele, Giuseppe
Yayımlandı Mov Disord Clin Pract (2020)

Molecular genotype in migraine

Yazar: Di Lorenzo, Cherubino, Grieco, Gaetano S, Rubegni, Anna, Santorelli, Filippo M
Yayımlandı J Headache Pain (2015)

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

Yazar: Bellofatto, Marta, De Michele, Giovanna, Iovino, Aniello, Filla, Alessandro, Santorelli, Filippo M.
Yayımlandı Front Neurol (2019)

Molecular Investigation of Pediatric Portuguese Patients with Sensorineural Hearing Loss

Yazar: Nogueira, Célia, Coutinho, Miguel, Pereira, Cristina, Tessa, Alessandra, Santorelli, Filippo M., Vilarinho, Laura
Baskı/Yayın Bilgisi 2011

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

Yazar: Racis, Loretta, Storti, Eugenia, Pugliatti, Maura, Agnetti, Virgilio, Tessa, Alessandra, Santorelli, Filippo M
Baskı/Yayın Bilgisi 2014

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

Yazar: Licitra, Rosario, Marchese, Maria, Brogi, Letizia, Fronte, Baldassare, Pitto, Letizia, Santorelli, Filippo M.
Yayımlandı Nutrients (2021)

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

Yazar: Rocha, Hugo, Flores, Carlos, Campos, Yolanda, Arenas, Joaquín, Vilarinho, Laura, Santorelli, Filippo M., Torroni, Antonio
Baskı/Yayın Bilgisi 1999

Syndromes associated with mitochondrial DNA depletion

Yazar: Nogueira, Célia, Almeida, Ligia S, Nesti, Claudia, Pezzini, Ilaria, Videira, Arnaldo, Vilarinho, Laura, Santorelli, Filippo M
Baskı/Yayın Bilgisi 2014

Social Preference Tests in Zebrafish: A Systematic Review

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

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

Yazar: Bandettini di Poggio, Monica, Nesti, Claudia, Bruno, Claudio, Meschini, Maria Chiara, Schenone, Angelo, Santorelli, Filippo M
Baskı/Yayın Bilgisi 2013

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

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

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

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

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

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

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

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

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

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

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

Yazar: Marchese, Maria, Conti, Valerio, Valvo, Giulia, Moro, Francesca, Muratori, Filippo, Tancredi, Raffaella, Santorelli, Filippo M, Guerrini, Renzo, Sicca, Federico
Baskı/Yayın Bilgisi 2014

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

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

Learning disabilities in neuromuscular disorders: a springboard for adult life

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