檢索結果 - Santorelli, Filippo M

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

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

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

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

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Molecular genotype in migraine 由 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 由 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 由 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 由 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 由 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… 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 Filosto, Massimiliano, Lanzi, Gaetana, Nesti, Claudia, Vielmi, Valentina, Marchina, Eleonora, Galvagni, Anna, Giliani, Silvia, Santorelli, Filippo M., Padovani, Alessandro

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