1. Complex I deficiency: clinical features, biochemistry and molecular genetics. Issue 9 (11th September 2012) Authors: Fassone, Elisa; Rahman, Shamima Journal: Journal of medical genetics Issue: Volume 49:Issue 9(2012) Page Start: 578 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Expanding the phenotypic spectrum of BCS1L‐related mitochondrial disease. Issue 11 (18th October 2021) Authors: Hikmat, Omar; Isohanni, Pirjo; Keshavan, Nandaki; Ferla, Matteo P.; Fassone, Elisa; Abbott, Mary‐Alice; Bellusci, Marcello; Darin, Niklas; Dimmock, David; Ghezzi, Daniele; Houlden, Henry; Invernizzi, Federica; Kamarus Jaman, Nazreen B.; Kurian, Manju A.; Morava, Eva; Naess, Karin; Ortigoza‐Escoba... Journal: Annals of clinical and translational neurology Issue: Volume 8:Issue 11(2021) Page Start: 2155 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Kearns–Sayre syndrome caused by defective R1/p53R2 assembly. Issue 9 (4th March 2011) Authors: Pitceathly, Robert D S; Fassone, Elisa; Taanman, Jan-Willem; Sadowski, Michael; Fratter, Carl; Mudanohwo, Ese E; Woodward, Cathy E; Sweeney, Mary G; Holton, Janice L; Hanna, Michael G; Rahman, Shamima Journal: Journal of medical genetics Issue: Volume 48:Issue 9(2011) Page Start: 610 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathy. Issue 10 (19th September 2011) Authors: Fassone, Elisa; Taanman, Jan-Willem; Hargreaves, Iain P; Sebire, Neil J; Cleary, Maureen A; Burch, Michael; Rahman, Shamima Journal: Journal of medical genetics Issue: Volume 48:Issue 10(2011) Page Start: 691 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Self‐welding 1‐butene/ethylene copolymers from metallocene catalysts: Structure, morphology, and mechanical properties. Issue 8 (16th November 2013) Authors: Marega, Carla; Spataro, Stefano; Fassone, Elisa; Camurati, Isabella; Marigo, Antonio Journal: Journal of applied polymer science Issue: Volume 131:Issue 8(2014:Apr. 15) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. The pleiotropic effects of decanoic acid treatment on mitochondrial function in fibroblasts from patients with complex I deficient Leigh syndrome. Issue 3 (14th April 2016) Authors: Kanabus, Marta; Fassone, Elisa; Hughes, Sean David; Bilooei, Sara Farahi; Rutherford, Tricia; Donnell, Maura O'; Heales, Simon J. R.; Rahman, Shamima Journal: Journal of inherited metabolic disease Issue: Volume 39:Issue 3(2016) Page Start: 415 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Treatable Leigh-like encephalopathy presenting in adolescence. (7th October 2013) Authors: Fassone, Elisa; Wedatilake, Yehani; DeVile, Catherine J; Chong, W Kling; Carr, Lucinda J; Rahman, Shamima Journal: BMJ case reports Issue: Volume 2013 Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. TRNT1 deficiency: clinical, biochemical and molecular genetic features. Issue 1 (December 2016) Authors: Wedatilake, Yehani; Niazi, Rojeen; Fassone, Elisa; Powell, Christopher; Pearce, Sarah; Plagnol, Vincent; Saldanha, José; Kleta, Robert; Chong, W; Footitt, Emma; Mills, Philippa; Taanman, Jan-Willem; Minczuk, Michal; Clayton, Peter; Rahman, Shamima Journal: Orphanet journal of rare diseases Issue: Volume 11:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗