1. A patient with novel MBOAT7 variant: The cerebellar atrophy is progressive and displays a peculiar neurometabolic profile. Issue 10 (3rd August 2020) Authors: Farnè, Marianna; Tedesco, Giovanna M.; Bedetti, Chiara; Mencarelli, Amedea; Rogaia, Daniela; Colavito, Davide; Di Cara, Giuseppe; Stangoni, Gabriela; Troiani, Stefania; Ferlini, Alessandra; Prontera, Paolo Journal: American journal of medical genetics Issue: Volume 182:Issue 10(2020) Page Start: 2377 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Combined effects of genetic and non‐genetic risk factors affect response to ranibizumab in exudative age‐related macular degeneration. (17th November 2014) Authors: Piermarocchi, Stefano; Miotto, Stefania; Colavito, Davide; Leon, Alberta; Segato, Tatiana Journal: Acta ophthalmologica Issue: Volume 93:Number 6(2015) Page Start: e451 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Expanding the spectrum of SPTLC1‐related disorders beyond hereditary sensory and autonomic neuropathies: A novel case of the distinct "S331 syndrome". Issue 3 (11th June 2020) Authors: Rossi, Fabiana; Bruno, Giorgia; Fratta, Mario; Colavito, Davide; Casertano, Sara; Sampaolo, Simone; Oliva, Mariano; Puoti, Gianfranco Journal: Journal of the peripheral nervous system Issue: Volume 25:Issue 3(2020) Page Start: 308 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Intrahepatic cholestasis of pregnancy: new insights into its pathogenesis. (September 2013) Authors: Floreani, Annarosa; Caroli, Diego; Lazzari, Roberta; Memmo, Alessia; Vidali, Elisa; Colavito, Davide; D'Arrigo, Antonello; Leon, Alberta; Romero, Roberto; Gervasi, Maria Teresa Journal: Journal of maternal-fetal & neonatal medicine Issue: Volume 26:Number 14(2013) Page Start: 1410 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Novel variants and cellular studies on patients' primary fibroblasts support a role for NEK1 missense variants in ALS pathogenesis. Issue 1 (14th January 2021) Authors: Lattante, Serena; Doronzio, Paolo Niccolò; Conte, Amelia; Marangi, Giuseppe; Martello, Francesco; Bisogni, Giulia; Meleo, Emiliana; Colavito, Davide; Del Giudice, Elda; Patanella, Agata Katia; Bernardo, Daniela; Romano, Angela; Zollino, Marcella; Sabatelli, Mario Journal: Human molecular genetics Issue: Volume 30:Issue 1(2021) Page Start: 65 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum. (15th December 2021) Authors: Johannesen, Katrine M.; Gardella, Elena; Gjerulfsen, Cathrine E.; Bayat, Allan; Rouhl, Rob P.W.; Reijnders, Margot; Whalen, Sandra; Keren, Boris; Buratti, Julien; Courtin, Thomas; Wierenga, Klaas J.; Isidor, Bertrand; Piton, Amélie; Faivre, Laurence; Garde, Aurore; Moutton, Sébastien; Tran-Mau-Th... Journal: Neurology Issue: Volume 7:Number 6(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum. (December 2021) Authors: Johannesen, Katrine M.; Gardella, Elena; Gjerulfsen, Cathrine E.; Bayat, Allan; Rouhl, Rob P.W.; Reijnders, Margot; Whalen, Sandra; Keren, Boris; Buratti, Julien; Courtin, Thomas; Wierenga, Klaas J.; Isidor, Bertrand; Piton, Amélie; Faivre, Laurence; Garde, Aurore; Moutton, Sébastien; Tran-Mau-Th... Journal: Neurology Issue: Volume 7:Number 6(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. The role of tyrosine metabolism in the pathogenesis of chronic migraine. (August 2013) Authors: D'Andrea, Giovanni; D'Amico, Domenico; Bussone, Gennaro; Bolner, Andrea; Aguggia, Marco; Saracco, Maria G; Galloni, Elisabetta; De Riva, Valentina; Colavito, Davide; Leon, Alberta; Rosteghin, Valeria; Perini, Francesco Journal: Cephalalgia Issue: Volume 33:Number 11(2013) Page Start: 932 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗