Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Giovanni Castegnaro"'
Autor:
Carlotta Stipa, Tommaso Pippucci, Simona Ferrari, Paolo Tinuper, Giovanni Castegnaro, Francesca Bisulli, Pamela Magini, Sara Baldassari, Marco Seri, Margherita Fabbri, Gilson Edmar Gonçalves e Silva, Ilaria Naldi, Laura Licchetta
Publikováno v:
Epilepsia. 55:841-848
Summary Objective To clinically and genetically characterize a large Brazilian family with autosomal dominant partial epilepsy with auditory features (ADPEAF) not related to leucine-rich, glioma-inactivated 1 (LGI1) gene. Methods Seventy family membe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::731f31bb5d91891e4695e976e9dc28e5
https://doi.org/10.1111/epi.12560
https://doi.org/10.1111/epi.12560
Autor:
Mariateresa Di Stazio, Marcella Ferraro, Carlo L. Balduini, Pamela Magini, Patrizia Noris, Francesca Punzo, Chiara Gnan, Saverio Scianguetta, Luca Dezzani, Samuele Gherardi, Daniela De Rocco, Tommaso Pippucci, Caterina Marconi, Valeria Bozzi, Giuseppe Loffredo, Nuria Pujol-Moix, Serena Barozzi, Giovanni Castegnaro, Anna Savoia, Giovanni Perini, Marco Seri, Silverio Perrotta, Alessandro Pecci
THC2, an autosomal-dominant thrombocytopenia described so far in only two families, has been ascribed to mutations in MASTL or ACBD5. Here, we show that ANKRD26, another gene within the THC2 locus, and neither MASTL nor ACBD5, is mutated in eight unr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e5c89ca280710ba86b9e3cd492b9c8d
http://hdl.handle.net/11585/154095
http://hdl.handle.net/11585/154095
Autor:
Caterina Marconi, Giovanni Castegnaro, Marco Seri, Alberto Verrotti, Emilio Franzoni, Duccio Maria Cordelli, Claudio Graziano, Valentina Marchiani, Tommaso Pippucci, Roberta Zuntini, Caterina Garone
Publikováno v:
Developmental Medicine & Child Neurology; Vol 53
Homozygous mutations in the gene for fatty acid 2-hydroxylase (FA2H) have been associated in humans with three neurodegenerative disorders: complicated spastic paraplegia (SPG35), leukodystrophy with spastic paraparesis and dystonia, and neurodegener
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab75ced45c4f0e9083087ab3ae6cf5de
http://hdl.handle.net/2318/142805
http://hdl.handle.net/2318/142805
Autor:
Kivanc Cefle, Vincenzo Stanghellini, Rosanna Cogliandro, Zeynel Mungan, Emanuele Panza, Tommaso Pippucci, Alessia Deglincerti, Giovanni Romeo, Giovanni Barbara, Giovanni Castegnaro, Roberto Corinaldesi, Marco Seri, Sukru Palanduz, Roberto De Giorgio, Marcella Devoto
Chronic idiopathic intestinal pseudo-obstruction (CIIP) is a rare and severe clinical syndrome characterized by symptoms and signs of intestinal occlusion, in the absence of any mechanical obstruction of the gut lumen. In the attempt to identify the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2dfb81728e896e6a43dd061656871cd
http://hdl.handle.net/11585/49147
http://hdl.handle.net/11585/49147