1. A recurrent splice-site mutation in EPHA2 causing congenital posterior nuclear cataract. (4th March 2018) Authors: Berry, Vanita; Pontikos, Nikolas; Albarca-Aguilera, Monica; Plagnol, Vincent; Massouras, Andreas; Prescott, DeQuincy; Moore, Anthony T.; Arno, Gavin; Cheetham, Michael E.; Michaelides, Michel Journal: Ophthalmic genetics Issue: Volume 39:Number 2(2018) Page Start: 236 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Arl3 and RP2 regulate the trafficking of ciliary tip kinesins. (10th July 2017) Authors: Schwarz, Nele; Lane, Amelia; Jovanovic, Katarina; Parfitt, David A.; Aguila, Monica; Thompson, Clare L.; da Cruz, Lyndon; Coffey, Peter J.; Chapple, J. Paul; Hardcastle, Alison J.; Cheetham, Michael E. Journal: Human molecular genetics Issue: Volume 26:Number 17(2017:Sep. 01) Page Start: 3451 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Delineating the expanding phenotype associated with SCAPER gene mutation. Issue 8 (13th June 2019) Authors: Fasham, James; Arno, Gavin; Lin, Siying; Xu, Mingchu; Carss, Keren J.; Hull, Sarah; Lane, Amelia; Robson, Anthony G.; Wenger, Olivia; Self, Jay E.; Harlalka, Gaurav V.; Salter, Claire G.; Schema, Lynn; Moss, Timothy J.; Cheetham, Michael E.; Moore, Anthony T.; Raymond, F. Lucy; Chen, Rui; Baple, ... Journal: American journal of medical genetics Issue: Volume 179:Issue 8(2019) Page Start: 1665 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. DNAJ Proteins in neurodegeneration: essential and protective factors. (19th January 2018) Authors: Zarouchlioti, Christina; Parfitt, David A.; Li, Wenwen; Gittings, Lauren M.; Cheetham, Michael E. Journal: Philosophical transactions Issue: Volume 373:Number 1738(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. DNAJ Proteins in neurodegeneration: essential and protective factors. (4th December 2017) Authors: Zarouchlioti, Christina; Parfitt, David A.; Li, Wenwen; Gittings, Lauren M.; Cheetham, Michael E. Journal: Philosophical transactions Issue: Volume 373:Number 1738(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1. Issue 1 (2nd January 2021) Authors: Klionsky, Daniel J.; Abdel-Aziz, Amal Kamal; Abdelfatah, Sara; Abdellatif, Mahmoud; Abdoli, Asghar; Abel, Steffen; Abeliovich, Hagai; Abildgaard, Marie H.; Abudu, Yakubu Princely; Acevedo-Arozena, Abraham; Adamopoulos, Iannis E.; Adeli, Khosrow; Adolph, Timon E.; Adornetto, Annagrazia; Aflaki, El... Journal: Autophagy Issue: Volume 17:Issue 1(2021) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1. Issue 1 (2nd January 2021) Authors: Klionsky, Daniel J.; Abdel-Aziz, Amal Kamal; Abdelfatah, Sara; Abdellatif, Mahmoud; Abdoli, Asghar; Abel, Steffen; Abeliovich, Hagai; Abildgaard, Marie H.; Abudu, Yakubu Princely; Acevedo-Arozena, Abraham; Adamopoulos, Iannis E.; Adeli, Khosrow; Adolph, Timon E.; Adornetto, Annagrazia; Aflaki, El... Journal: Autophagy Issue: Volume 17:Issue 1(2021) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Induced Pluripotent Stem Cells for Inherited Optic Neuropathies—Disease Modeling and Therapeutic Development. Issue 1 (30th March 2022) Authors: Harvey, Joshua Paul; Sladen, Paul Edward; Yu-Wai-Man, Patrick; Cheetham, Michael E. Editors: Costello, Fiona; Prasad, Sashank Journal: Journal of neuro-ophthalmology Issue: Volume 42:Issue 1(2022) Page Start: 35 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Induced Pluripotent Stem Cells for Inherited Optic Neuropathies—Disease Modeling and Therapeutic Development. Issue 1 (March 2022) Authors: Harvey, Joshua Paul; Sladen, Paul Edward; Yu-Wai-Man, Patrick; Cheetham, Michael E. Other Names: Costello Fiona section editor.; Prasad Sashank section editor. Journal: Journal of neuro-ophthalmology Issue: Volume 42:Issue 1(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Missense variants in the X‐linked gene PRPS1 cause retinal degeneration in females. Issue 1 (17th October 2017) Authors: Fiorentino, Alessia; Fujinami, Kaoru; Arno, Gavin; Robson, Anthony G.; Pontikos, Nikolas; Arasanz Armengol, Monica; Plagnol, Vincent; Hayashi, Takaaki; Iwata, Takeshi; Parker, Matthew; Fowler, Tom; Rendon, Augusto; Gardner, Jessica C.; Henderson, Robert H.; Cheetham, Michael E.; Webster, Andrew R... Journal: Human mutation Issue: Volume 39:Issue 1(2018) Page Start: 80 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗