1. Ambra1 deficiency impairs mitophagy in skeletal muscle. Issue 4 (20th May 2022) Authors: Gambarotto, Lisa; Metti, Samuele; Chrisam, Martina; Cerqua, Cristina; Sabatelli, Patrizia; Armani, Andrea; Zanon, Carlo; Spizzotin, Marianna; Castagnaro, Silvia; Strappazzon, Flavie; Grumati, Paolo; Cescon, Matilde; Braghetta, Paola; Trevisson, Eva; Cecconi, Francesco; Bonaldo, Paolo Journal: Journal of cachexia, sarcopenia and muscle Issue: Volume 13:Issue 4(2022) Page Start: 2211 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Biallelic mutations in the TOGARAM1 gene cause a novel primary ciliopathy. Issue 8 (3rd August 2020) Authors: Morbidoni, Valeria; Agolini, Emanuele; Slep, Kevin C; Pannone, Luca; Zuccarello, Daniela; Cassina, Matteo; Grosso, Enrico; Gai, Giorgia; Salviati, Leonardo; Dallapiccola, Bruno; Novelli, Antonio; Martinelli, Simone; Trevisson, Eva Journal: Journal of medical genetics Issue: Volume 58:Issue 8(2021) Page Start: 526 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1. Issue 1 (26th October 2019) Authors: Koczkowska, Magdalena; Callens, Tom; Chen, Yunjia; Gomes, Alicia; Hicks, Alesha D.; Sharp, Angela; Johns, Eric; Uhas, Kim Armfield; Armstrong, Linlea; Bosanko, Katherine Armstrong; Babovic‐Vuksanovic, Dusica; Baker, Laura; Basel, Donald G.; Bengala, Mario; Bennett, James T.; Chambers, Chelsea; Cl... Journal: Human mutation Issue: Volume 41:Issue 1(2020) Page Start: 299 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Correlation of peripapillary retinal nerve fibre layer thickness with visual acuity in paediatric patients affected by optic pathway glioma. Issue 8 (3rd October 2018) Authors: Parrozzani, Raffaele; Miglionico, Giacomo; Leonardi, Francesca; Pulze, Serena; Trevisson, Eva; Clementi, Maurizio; Opocher, Enrico; Licata, Viviana; Viscardi, Elisabetta; Pilotto, Elisabetta; Frizziero, Luisa; Midena, Edoardo Journal: Acta ophthalmologica Issue: Volume 96:Issue 8(2018) Page Start: e1004 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Functional Analysis of Missense Mutations of OAT, Causing Gyrate Atrophy of Choroid and Retina. Issue 1 (17th October 2012) Authors: Doimo, Mara; Desbats, Maria Andrea; Baldoin, Maria Cristina; Lenzini, Elisabetta; Basso, Giuseppe; Murphy, Elaine; Graziano, Claudio; Seri, Marco; Burlina, Alberto; Sartori, Geppo; Trevisson, Eva; Salviati, Leonardo Journal: Human mutation Issue: Volume 34:Issue 1(2013:Jan.) Page Start: 229 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Genetic bases and clinical manifestations of coenzyme Q10 (CoQ10) deficiency. Issue 1 (5th August 2014) Authors: Desbats, Maria Andrea; Lunardi, Giada; Doimo, Mara; Trevisson, Eva; Salviati, Leonardo Journal: Journal of inherited metabolic disease Issue: Volume 38:Issue 1(2015) Page Start: 145 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency. Issue 3 (24th February 2012) Authors: Salviati, Leonardo; Trevisson, Eva; Rodriguez Hernandez, Maria Angeles; Casarin, Alberto; Pertegato, Vanessa; Doimo, Mara; Cassina, Matteo; Agosto, Caterina; Desbats, Maria Andrea; Sartori, Geppo; Sacconi, Sabrina; Memo, Luigi; Zuffardi, Orsetta; Artuch, Rafael; Quinzii, Catarina; DiMauro, Salvat... Journal: Journal of medical genetics Issue: Volume 49:Issue 3(2012) Page Start: 187 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Ichthyosis and Kallmann syndrome: Not always a contiguous gene syndrome. Issue 2 (May 2015) Authors: Trevisson, Eva; Ludwig, Kathrin; Casarin, Alberto; Di Meglio, Annamaria; Greggio, Nella Augusta; Manara, Renzo; Lenzini, Elisabetta; Clementi, Maurizio; Salviati, Leonardo Journal: Journal of dermatological science Issue: Volume 78:Issue 2(2015:May) Page Start: 158 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Ichthyosis and Kallmann syndrome: Not always a contiguous gene syndrome. Issue 2 (May 2015) Authors: Trevisson, Eva; Ludwig, Kathrin; Casarin, Alberto; Di Meglio, Annamaria; Greggio, Nella Augusta; Manara, Renzo; Lenzini, Elisabetta; Clementi, Maurizio; Salviati, Leonardo Journal: Journal of dermatological science Issue: Volume 78:Issue 2(2015:May) Page Start: 158 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Mutations in COQ8B (ADCK4) found in patients with steroid‐resistant nephrotic syndrome alter COQ8B function. Issue 3 (18th December 2017) Authors: Vazquez Fonseca, Luis; Doimo, Mara; Calderan, Cristina; Desbats, Maria Andrea; Acosta, Manuel J.; Cerqua, Cristina; Cassina, Matteo; Ashraf, Shazia; Hildebrandt, Friedhelm; Sartori, Geppo; Navas, Placido; Trevisson, Eva; Salviati, Leonardo Journal: Human mutation Issue: Volume 39:Issue 3(2018) Page Start: 406 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗