Výsledky vyhledávání - Santorelli, Filippo M
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Dopamine-agonist responsive Parkinsonism in a patient with the SANDO syndrome caused by POLG mutation Autor Bandettini di Poggio, Monica, Nesti, Claudia, Bruno, Claudio, Meschini, Maria Chiara, Schenone, Angelo, Santorelli, Filippo M
Vydáno 2013Text -
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Evolution of Epileptiform Activity in Zebrafish by Statistical-Based Integration of Electrophysiology and 2-Photon Ca(2+) Imaging Autor Cozzolino, Olga, Sicca, Federico, Paoli, Emanuele, Trovato, Francesco, Santorelli, Filippo M., Ratto, Gian Michele, Marchese, Maria
Vydáno 2020Text -
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Alpha-sarcoglycanopathy presenting as myalgia and hyperCKemia in two adults with a long-term follow-up. Case reports Autor Dosi, Claudia, Rubegni, Anna, Cassandrini, Denise, Malandrini, Alessandro, Maggi, Lorenzo, Donati, M. Alice, Santorelli, Filippo M.
Vydáno 2020Text -
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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 Autor Doimo, Mara, Lopreiato, Raffaele, Basso, Valentina, Bortolotto, Raissa, Tessa, Alessandra, Santorelli, Filippo M., Trevisson, Eva, Salviati, Leonardo
Vydáno 2015Text -
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The Revolution in Migraine Genetics: From Aching Channels Disorders to a Next-Generation Medicine Autor Pellacani, Simona, Sicca, Federico, Di Lorenzo, Cherubino, Grieco, Gaetano S., Valvo, Giulia, Cereda, Cristina, Rubegni, Anna, Santorelli, Filippo M.
Vydáno 2016Text -
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Swimming in Deep Water: Zebrafish Modeling of Complicated Forms of Hereditary Spastic Paraplegia and Spastic Ataxia Autor Naef, Valentina, Mero, Serena, Fichi, Gianluca, D'Amore, Angelica, Ogi, Asahi, Gemignani, Federica, Santorelli, Filippo M., Marchese, Maria
Vydáno 2019Text -
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Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screening Autor Marchese, Maria, Conti, Valerio, Valvo, Giulia, Moro, Francesca, Muratori, Filippo, Tancredi, Raffaella, Santorelli, Filippo M, Guerrini, Renzo, Sicca, Federico
Vydáno 2014Text -
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A novel mitochondrial tRNA(Ala) gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington disease Autor Filosto, Massimiliano, Lanzi, Gaetana, Nesti, Claudia, Vielmi, Valentina, Marchina, Eleonora, Galvagni, Anna, Giliani, Silvia, Santorelli, Filippo M., Padovani, Alessandro
Vydáno 2016Text