1. Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking. (9th January 2020) Authors: Behne, Robert; Teinert, Julian; Wimmer, Miriam; D'Amore, Angelica; Davies, Alexandra K; Scarrott, Joseph M; Eberhardt, Kathrin; Brechmann, Barbara; Chen, Ivy Pin-Fang; Buttermore, Elizabeth D; Barrett, Lee; Dwyer, Sean; Chen, Teresa; Hirst, Jennifer; Wiesener, Antje; Segal, Devorah; Martinuzzi, A... Journal: Human molecular genetics Issue: Volume 29:Number 2(2020) Page Start: 320 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. An 8-year old boy with continuous spikes and waves during slow sleep presenting with positive onconeuronal antibodies. (March 2015) Authors: Hu, Lin-Yan; Shi, Xiu-Yu; Feng, Chen; Wang, Jian-Wen; Yang, Guan; Lammers, Stephen H.T.; Yang, Xiao Fan; Ebrahimi-Fakhari, Darius; Zou, Li-Ping Journal: European journal of paediatric neurology Issue: Volume 19:Number 2(2015:Mar.) Page Start: 257 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. An 8-year old boy with continuous spikes and waves during slow sleep presenting with positive onconeuronal antibodies. (March 2015) Authors: Hu, Lin-Yan; Shi, Xiu-Yu; Feng, Chen; Wang, Jian-Wen; Yang, Guan; Lammers, Stephen H.T.; Yang, Xiao Fan; Ebrahimi-Fakhari, Darius; Zou, Li-Ping Journal: European journal of paediatric neurology Issue: Volume 19:Number 2(2015:Mar.) Page Start: 257 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Autism and the synapse. Issue 2 (April 2015) Authors: Ebrahimi-Fakhari, Darius; Sahin, Mustafa Journal: Current opinion in neurology Issue: Volume 28:Issue 2(2015:Apr.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Autism and the synapse: emerging mechanisms and mechanism-based therapies. Issue 2 (April 2015) Authors: Ebrahimi-Fakhari, Darius; Sahin, Mustafa Journal: Current opinion in neurology Issue: Volume 28:Issue 2(2015:Apr.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Blended Phenotype of Prader-Willi Syndrome and HSP-SPG11 Caused by Maternal Uniparental Isodisomy. (23rd December 2022) Authors: Kunta, Avaneesh R.; Jueng, Jeremy; Jordan, Catherine; Kojic, Jasna; Mo, Alisa; Ebrahimi-Fakhari, Darius Journal: Neurology Issue: Volume 8:Number 6(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7. (February 2021) Authors: Ziegler, Marvin; Russell, Bianca E.; Eberhardt, Kathrin; Geisel, Gregory; D'Amore, Angelica; Sahin, Mustafa; Kornblum, Harley I.; Ebrahimi-Fakhari, Darius Journal: Neurology Issue: Volume 7:Number 1(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. De novo variants cause complex symptoms in HSP-ATL1 (SPG3A) and uncover genotype–phenotype correlations. Issue 1 (4th August 2022) Authors: Alecu, Julian E; Saffari, Afshin; Jordan, Catherine; Srivastava, Siddharth; Blackstone, Craig; Ebrahimi-Fakhari, Darius Journal: Human molecular genetics Issue: Volume 32:Issue 1(2023) Page Start: 93 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Disease Severity and Motor Impairment Correlate With Health-Related Quality of Life in AP-4-Associated Hereditary Spastic Paraplegia. (August 2021) Authors: Jordan, Catherine; Geisel, Gregory; Alecu, Julian E.; Zhang, Bo; Sahin, Mustafa; Ebrahimi-Fakhari, Darius Journal: Neurology Issue: Volume 7:Number 4(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). Issue 1 (2nd January 2016) Authors: Klionsky, Daniel J; Abdelmohsen, Kotb; Abe, Akihisa; Abedin, Md Joynal; Abeliovich, Hagai; Acevedo Arozena, Abraham; Adachi, Hiroaki; Adams, Christopher M; Adams, Peter D; Adeli, Khosrow; Adhihetty, Peter J; Adler, Sharon G; Agam, Galila; Agarwal, Rajesh; Aghi, Manish K; Agnello, Maria; Agostinis... Journal: Autophagy Issue: Volume 12:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗