Canlyniadau Chwilio - Santorelli, Filippo M

Reply to: Double trouble progressive external ophthalmoplegia and Huntington's disease gan Filosto, Massimiliano, Santorelli, Filippo M.

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Migraine headache: a review of the molecular genetics of a common disorder gan Di Lorenzo, Cherubino, Grieco, Gaetano S., Santorelli, Filippo M.

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STUB1‐Related Ataxias: A Challenging Diagnosis gan Cocozza, Sirio, Santorelli, Filippo M., De Michele, Giuseppe

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Tackling Dysfunction of Mitochondrial Bioenergetics in the Brain gan Zanfardino, Paola, Doccini, Stefano, Santorelli, Filippo M., Petruzzella, Vittoria

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Molecular genotype in migraine gan Di Lorenzo, Cherubino, Grieco, Gaetano S, Rubegni, Anna, Santorelli, Filippo M

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Management of Hereditary Spastic Paraplegia: A Systematic Review of the Literature gan Bellofatto, Marta, De Michele, Giovanna, Iovino, Aniello, Filla, Alessandro, Santorelli, Filippo M.

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Molecular Investigation of Pediatric Portuguese Patients with Sensorineural Hearing Loss gan Nogueira, Célia, Coutinho, Miguel, Pereira, Cristina, Tessa, Alessandra, Santorelli, Filippo M., Vilarinho, Laura

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Novel SPAST deletion and reduced DPY30 expression in a Spastic Paraplegia type 4 kindred gan Racis, Loretta, Storti, Eugenia, Pugliatti, Maura, Agnetti, Virgilio, Tessa, Alessandra, Santorelli, Filippo M

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Nutraceutical Screening in a Zebrafish Model of Muscular Dystrophy: Gingerol as a Possible Food Aid gan Licitra, Rosario, Marchese, Maria, Brogi, Letizia, Fronte, Baldassare, Pitto, Letizia, Santorelli, Filippo M.

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About the “Pathological” Role of the mtDNA T3308C Mutation… gan Rocha, Hugo, Flores, Carlos, Campos, Yolanda, Arenas, Joaquín, Vilarinho, Laura, Santorelli, Filippo M., Torroni, Antonio

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Syndromes associated with mitochondrial DNA depletion gan Nogueira, Célia, Almeida, Ligia S, Nesti, Claudia, Pezzini, Ilaria, Videira, Arnaldo, Vilarinho, Laura, Santorelli, Filippo M

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Social Preference Tests in Zebrafish: A Systematic Review gan Ogi, Asahi, Licitra, Rosario, Naef, Valentina, Marchese, Maria, Fronte, Baldassare, Gazzano, Angelo, Santorelli, Filippo M.

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Dopamine-agonist responsive Parkinsonism in a patient with the SANDO syndrome caused by POLG mutation gan Bandettini di Poggio, Monica, Nesti, Claudia, Bruno, Claudio, Meschini, Maria Chiara, Schenone, Angelo, Santorelli, Filippo M

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Evolution of Epileptiform Activity in Zebrafish by Statistical-Based Integration of Electrophysiology and 2-Photon Ca(2+) Imaging gan Cozzolino, Olga, Sicca, Federico, Paoli, Emanuele, Trovato, Francesco, Santorelli, Filippo M., Ratto, Gian Michele, Marchese, Maria

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Alpha-sarcoglycanopathy presenting as myalgia and hyperCKemia in two adults with a long-term follow-up. Case reports gan Dosi, Claudia, Rubegni, Anna, Cassandrini, Denise, Malandrini, Alessandro, Maggi, Lorenzo, Donati, M. Alice, Santorelli, Filippo M.

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Heterologous Expression in Yeast of Human Ornithine Carriers ORNT1 and ORNT2 and of ORNT1 Alleles Implicated in HHH Syndrome in Humans gan Doimo, Mara, Lopreiato, Raffaele, Basso, Valentina, Bortolotto, Raissa, Tessa, Alessandra, Santorelli, Filippo M., Trevisson, Eva, Salviati, Leonardo

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The Revolution in Migraine Genetics: From Aching Channels Disorders to a Next-Generation Medicine gan Pellacani, Simona, Sicca, Federico, Di Lorenzo, Cherubino, Grieco, Gaetano S., Valvo, Giulia, Cereda, Cristina, Rubegni, Anna, Santorelli, Filippo M.

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Swimming in Deep Water: Zebrafish Modeling of Complicated Forms of Hereditary Spastic Paraplegia and Spastic Ataxia gan Naef, Valentina, Mero, Serena, Fichi, Gianluca, D'Amore, Angelica, Ogi, Asahi, Gemignani, Federica, Santorelli, Filippo M., Marchese, Maria

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Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screening gan Marchese, Maria, Conti, Valerio, Valvo, Giulia, Moro, Francesca, Muratori, Filippo, Tancredi, Raffaella, Santorelli, Filippo M, Guerrini, Renzo, Sicca, Federico

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A novel mitochondrial tRNA(Ala) gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington disease gan Filosto, Massimiliano, Lanzi, Gaetana, Nesti, Claudia, Vielmi, Valentina, Marchina, Eleonora, Galvagni, Anna, Giliani, Silvia, Santorelli, Filippo M., Padovani, Alessandro

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