1. Abnormal apolipoprotein B pre-mRNA splicing in patients with familial hypobetalipoproteinaemia. Issue 3 (8th December 2006) Authors: Di Leo, Enza; Magnolo, Lucia; Lancellotti, Sandra; Crocè, Lory; Visintin, Luca; Tiribelli, Claudio; Bertolini, Stefano; Calandra, Sebastiano; Tarugi, Patrizia Journal: Journal of medical genetics Issue: Volume 44:Issue 3(2007) Page Start: 219 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Characterization of Italian patients with familial hypercholesterolemia: The lipigen study. (August 2017) Authors: Casula, Manuela; Chiodo, Lorenzo; Garlaschelli, Katia; Galimberti, Federica; Arca, Marcello; Averna, Maurizio; Bertolini, Stefano; Calandra, Sebastiano; Catapano, Alberico Luigi; Tarugi, Patrizia Journal: Atherosclerosis Issue: Volume 263(2017) Page Start: e235 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Corrigendum to "Molecular diagnosis of hypobetalipoproteinemia: An ENID review" [Atherosclerosis 195 (2) (2007) 19–27]. (October 2016) Authors: Tarugi, Patrizia; Averna, Maurizio; Di Leo, Enza; Cefalù, Angelo B.; Noto, Davide; Magnolo, Lucia; Cattin, Luigi; Bertolini, Stefano; Calandra, Sebastiano Journal: Atherosclerosis Issue: Volume 253(2016) Page Start: e1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Corrigendum to "Molecular diagnosis of hypobetalipoproteinemia: An ENID review" [Atherosclerosis 195 (2) (2007) 19–27]. (October 2016) Authors: Tarugi, Patrizia; Averna, Maurizio; Di Leo, Enza; Cefalù, Angelo B.; Noto, Davide; Magnolo, Lucia; Cattin, Luigi; Bertolini, Stefano; Calandra, Sebastiano Journal: Atherosclerosis Issue: Volume 253(2016) Page Start: e1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Familial combined hypolipidemia due to mutations in the ANGPTL3 gene. (February 2013) Authors: Calandra, Sebastiano; Tarugi, Patrizia; Averna, Maurizio; Bertolini, Stefano Journal: Clinical lipidology Issue: Volume 8:Number 1(2013) Page Start: 81 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Familial hypercholesterolemia: The Italian Atherosclerosis Society Network (LIPIGEN). (October 2017) Authors: Averna, Maurizio; Cefalù, Angelo B.; Casula, Manuela; Noto, Davide; Arca, Marcello; Bertolini, Stefano; Calandra, Sebastiano; Catapano, Alberico L.; Tarugi, Patrizia Journal: Atherosclerosis Issue: Volume 29(2017) Page Start: 11 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Homozygous familial hypercholesterolemia in Italy: Clinical and molecular features. (November 2020) Authors: Bertolini, Stefano; Calandra, Sebastiano; Arca, Marcello; Averna, Maurizio; Catapano, Alberico L.; Tarugi, Patrizia; Bartuli, Andrea; Bucci, Marco; Buonuomo, Paola Sabrina; Calabrò, Paolo; Casula, Manuela; Cefalù, Angelo Baldassare; Cicero, Arrigo; D'Addato, Sergio; D'Erasmo, Laura; Fasano, Tomma... Journal: Atherosclerosis Issue: Volume 312(2020) Page Start: 72 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Lipoprotein Glomerulopathy Associated with a Mutation in Apolipoprotein E. Issue 6 (January 2013) Authors: Magistroni, Riccardo; Bertolotti, Marco; Furci, Luciana; Fano, Rita Adriana; Leonelli, Marco; Pisciotta, Livia; Pellegrini, Elisa; Calabresi, Laura; Bertolini, Stefano; Calandra, Sebastiano Journal: Clinical medicine insights Issue: Issue 6(2013) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Molecular and clinical characterization of a series of patients with childhood-onset lysosomal acid lipase deficiency. Retrospective investigations, follow-up and detection of two novel LIPA pathogenic variants. (October 2017) Authors: Pisciotta, Livia; Tozzi, Giulia; Travaglini, Lorena; Taurisano, Roberta; Lucchi, Tiziano; Indolfi, Giuseppe; Papadia, Francesco; Di Rocco, Maja; D'Antiga, Lorenzo; Crock, Patricia; Vora, Komal; Nightingale, Scott; Michelakakis, Helen; Garoufi, Anastasia; Lykopoulou, Lilia; Bertolini, Stefano; Cal... Journal: Atherosclerosis Issue: Volume 265(2017) Page Start: 124 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Overview of the current status of familial hypercholesterolaemia care in over 60 countries - The EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC). (October 2018) Authors: Vallejo-Vaz, Antonio J.; De Marco, Martina; Stevens, Christophe A.T.; Akram, Asif; Freiberger, Tomas; Hovingh, G. Kees; Kastelein, John J.P.; Mata, Pedro; Raal, Frederick J.; Santos, Raul D.; Soran, Handrean; Watts, Gerald F.; Abifadel, Marianne; Aguilar-Salinas, Carlos A.; Al-khnifsawi, Mutaz; A... Journal: Atherosclerosis Issue: Volume 277(2018) Page Start: 234 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗