@article{UBHD-68380950, author={Byrne, Susan and K{\"o}lker, Stefan and Ebrahimi-Fakhari, Darius and Hoffmann, Georg F. and Pilz, Daniela and Schara, Ulrike and Zenker, Martin}, title={EPG5-related Vici syndrome}, subtitle={a paradigm of neurodevelopmental disorders with defective autophagy}, year={2016}, pages={765-781}, language={eng}, issn={1460-2156}, volume={139}, number={3}, journal={Brain}, doi={10.1093/brain/awv393}, } @article{UBHD-68380803, author={Ebrahimi-Fakhari, Darius and McLean, Pamela J. and Unni, Vivek K.}, title={Alpha-synuclein’s degradation in vivo}, year={2012}, pages={281-283}, language={eng}, issn={1554-8635}, volume={8}, number={2}, note={Gesehen am 16.04.2019}, journal={Autophagy}, doi={10.4161/auto.8.2.18938}, } @article{UBHD-68613805, author={Ebrahimi-Fakhari, Darius and Sahin, Mustafa}, title={Autism and the synapse}, subtitle={emerging mechanisms and mechanism-based therapies}, year={2015}, pages={91-102}, language={eng}, issn={1473-6551}, volume={28}, number={2}, note={Gesehen am 06.07.2020}, journal={Current opinion in neurology}, doi={10.1097/WCO.0000000000000186}, } @article{UBHD-68677382, author={Ebrahimi-Fakhari, Darius}, title={Autophagy and neurodegeneration}, subtitle={genetic findings in SENDA syndrome, a subtype of neurodegeneration with brain iron accumulation, provide a novel link}, year={2013}, pages={1050-1050}, language={eng}, issn={1531-8257}, volume={28}, number={8}, note={Gesehen am 07.01.2021}, journal={Movement disorders}, doi={10.1002/mds.25563}, } @article{UBHD-68721407, author={Ebrahimi-Fakhari, Darius and Kang, Keun-Sun and Kotzaeridou, Urania and Kohlhase, J{\"u}rgen and Klein, Christine and Assmann, Birgit}, title={Child neurology}, subtitle={PRRT2-associated movement disorders and differential diagnoses}, year={2014}, pages={1680-1683}, language={eng}, issn={1526-632X}, volume={83}, number={18}, note={Gesehen am 08.04.2021}, journal={Neurology}, doi={10.1212/WNL.0000000000000936}, } @article{UBHD-69045045, author={Ebrahimi-Fakhari, Darius and Wahlster, Lara and Mackensen, Friederike and Blank, Norbert}, title={Clinical manifestations and longterm followup of a patient with CINCA/NOMID syndrome}, year={2010}, pages={2196-2197}, language={eng}, issn={1499-2752}, volume={37}, number={10}, note={Gesehen am 27.02.2023}, journal={The journal of rheumatology}, doi={10.3899/jrheum.100290}, } @article{UBHD-68572620, author={Ebrahimi-Fakhari, Darius and Saffari, Afshin and Wahlster, Lara and Lu, Jenny and Byrne, Susan and Hoffmann, Georg F. and Jungbluth, Heinz and Sahin, Mustafa}, title={Congenital disorders of autophagy}, subtitle={an emerging novel class of inborn errors of neuro-metabolism}, year={2016}, pages={317-337}, language={eng}, issn={1460-2156}, volume={139}, number={2}, note={Advance access publication December 29, 2015 ; Gesehen am 04.05.2020}, journal={Brain}, doi={10.1093/brain/awv371}, } @book{UBHD-67466576, author={Ebrahimi-Fakhari, Darius}, title={Differential roles of the ubiquitin-proteasome-system and the autophagy-lysosomal-pathway in the degradation of alpha-synuclein in vivo}, subtitle={implication for Parkinson's disease and other neurodegenerative disease}, year={2013}, pages={IX, 190 S.}, language={eng}, school={Heidelberg, Univ., Diss., 2013}, library={UB [Signatur: 2013 U 836]}, } @article{UBHD-68033855, author={Ebrahimi-Fakhari, Darius and Maas, Bianca and Hinderhofer, Katrin and Assmann, Birgit and Runz, Heiko}, title={Disruption of SOX6 is associated with a rapid-onset dopa-responsive movement disorder, delayed development, and dysmorphic features : clinical observations}, year={2015}, pages={115-118}, language={eng}, issn={1873-5150}, volume={52}, number={1}, note={Available online 17 September 2014 ; Gesehen am 29.09.2015}, journal={Pediatric neurology}, doi={10.1016/j.pediatrneurol.2014.08.021}, } @article{UBHD-68902993, author={Ebrahimi-Fakhari, Darius and Cantuti-Castelvetri, Ippolita and Fan, Zhanyun and Rockenstein, Edward and Masliah, Eliezer and Hyman, Bradley T. and McLean, Pamela J. and Unni, Vivek K.}, title={Distinct roles In Vivo for the ubiquitin-proteasome system and the autophagy-lysosomal pathway in the degradation of α-synuclein}, year={2011}, pages={14508-14520}, language={eng}, issn={1529-2401}, volume={31}, number={41}, note={Gesehen am 04.04.2022}, journal={The journal of neuroscience}, doi={10.1523/JNEUROSCI.1560-11.2011}, } @article{UBHD-67675747, author={Ebrahimi-Fakhari, Darius and Wahlster, Lara and Hoffmann, Georg F. and K{\"o}lker, Stefan}, title={Emerging role of autophagy in pediatric neurodegenerative and neurometabolic diseases}, year={2014}, pages={217-226}, language={eng}, issn={1530-0447}, volume={75}, number={1/2}, note={Gesehen am 18.09.2014}, journal={Pediatric research}, doi={10.1038/pr.2013.185}, } @article{UBHD-68613792, author={Ebrahimi-Fakhari, Darius and Saffari, Afshin and Westenberger, Ana and Klein, Christine}, title={The evolving spectrum of PRRT2-associated paroxysmal diseases}, year={2015}, pages={3476-3495}, language={eng}, issn={1460-2156}, volume={138}, number={12}, note={Gesehen am 06.07.2020}, journal={Brain}, doi={10.1093/brain/awv317}, } @article{UBHD-68380798, author={Ebrahimi-Fakhari, Darius and Sch{\"o}nland, Stefan and Hegenbart, Ute and Beimler, J{\"o}rg and Wahlster, Lara and Ho, Anthony Dick and Lorenz, Hanns-Martin and Blank, Norbert}, title={Familial Mediterranean fever in Germany}, subtitle={clinical presentation and amyloidosis risk}, year={2013}, pages={52-58}, language={eng}, issn={1502-7732}, volume={42}, number={1}, note={Published online: 08 Nov 2012 ; Gesehen am 16.04.2019}, journal={Scandinavian journal of rheumatology}, doi={10.3109/03009742.2012.714796}, } @article{UBHD-68572613, author={Ebrahimi-Fakhari, Darius and Saffari, Afshin and Wahlster, Lara and Di Nardo, Alessia and Turner, Daria and Lewis, Tommy L. and Conrad, Christopher and Rothberg, Jonathan M. and Lipton, Jonathan O. and K{\"o}lker, Stefan and Hoffmann, Georg F. and Han, Min-Joon and Polleux, Franck and Sahin, Mustafa}, title={Impaired mitochondrial dynamics and mitophagy in neuronal models of tuberous sclerosis complex}, year={2016}, pages={2162}, language={eng}, issn={2211-1247}, volume={17}, number={8}, note={Gesehen am 04.05.2020}, journal={Cell reports}, doi={10.1016/j.celrep.2016.10.051}, } @article{UBHD-68186430, author={Ebrahimi-Fakhari, Darius and Saffari, Afshin and Wahlster, Lara and K{\"o}lker, Stefan}, title={Impaired mitochondrial dynamics and mitophagy in neuronal models of tuberous sclerosis complex}, year={2016}, pages={1053-1070}, language={eng}, issn={2211-1247}, volume={17}, number={4}, note={Gesehen am 06.11.2017}, journal={Cell reports}, doi={10.1016/j.celrep.2016.09.054}, } @article{UBHD-68698708, author={Ebrahimi-Fakhari, Darius and Agrawal, Mridul and Wahlster, Lara}, title={International electives in the final year of German medical school education}, subtitle={a student's perspective}, year={2014}, language={eng}, issn={1860-3572}, volume={31(2014}, note={Gesehen am 12.02.2021}, journal={GMS Zeitschrift f{\"u}r medizinische Ausbildung}, doi={10.3205/zma000918}, } @article{UBHD-67675753, author={Ebrahimi-Fakhari, Darius and Wahlster, Lara}, title={Modeling Parkinson's disease in a dish}, subtitle={a story of yeast and men}, year={2014}, pages={34}, language={eng}, issn={1531-8257}, volume={29}, number={1}, note={Gesehen am 18.09.2014}, journal={Movement disorders}, doi={10.1002/mds.25781}, } @article{UBHD-68902995, author={Ebrahimi-Fakhari, Darius and Wahlster, Lara and McLean, Pamela J.}, title={Molecular chaperones in Parkinson's disease - present and future}, year={2011}, pages={299-320}, language={eng}, issn={1877-718X}, volume={1}, number={4}, note={Gesehen am 04.04.2022}, journal={Journal of Parkinson's Disease}, doi={10.3233/JPD-2011-11044}, } @book{UBHD-67967242, author={Ebrahimi-Fakhari, Darius and Wahlster, Lara}, title={Molecular chaperones and protein folding as therapeutic targets in Parkinson’s disease and other synucleinopathies}, publisher={BioMed Central}, address={London}, year={2016}, pages={1 Online-Ressource (15 Seiten)}, language={eng}, note={Wissenschaftlicher Aufsatz. - Aus: Acta Neuropathologica Communications, 1 (2013), Nr. 79. pp. 1-15. ISSN 2051-5960}, doi={10.1186/2051-5960-1-79}, url={https://nbn-resolving.org/urn:nbn:de:bsz:16-heidok-194854}, library={UB}, } @article{UBHD-68641194, author={Ebrahimi-Fakhari, Darius and Wahlster, Lara and Sahin, Mustafa}, title={Parkinson's disease}, subtitle={a disorder of axonal mitophagy?}, year={2014}, pages={1582-1582}, language={eng}, issn={1531-8257}, volume={29}, number={13}, note={Gesehen am 29.09.2020}, journal={Movement disorders}, doi={10.1002/mds.26047}, } @article{UBHD-68380806, author={Ebrahimi-Fakhari, Darius and Wahlster, Lara and McLean, Pamela J.}, title={Protein degradation pathways in Parkinson’s disease}, subtitle={curse or blessing}, year={2012}, pages={153-172}, language={eng}, issn={1432-0533}, volume={124}, number={2}, note={Gesehen am 16.04.2019}, journal={Acta neuropathologica}, doi={10.1007/s00401-012-1004-6}, } @article{UBHD-68677391, author={Ebrahimi-Fakhari, Darius and McLean, Pamela J. and Wahlster, Lara}, title={Proteotoxicity and cardiac dysfunction}, year={2013}, language={eng}, issn={1533-4406}, volume={368(2013}, note={Gesehen am 07.01.2021}, journal={The New England journal of medicine}, doi={10.1056/NEJMc1302511}, } @article{UBHD-68007609, author={Ebrahimi-Fakhari, Darius and Seitz, Angelika and K{\"o}lker, Stefan and Hoffmann, Georg F.}, title={Recurrent stroke-like episodes in FBXL4-associated early-onset mitochondrial encephalomyopathy}, year={2015}, pages={549-550}, language={eng}, issn={1873-5150}, volume={53}, number={6}, note={Gesehen am 14.07.2016}, journal={Pediatric neurology}, doi={10.1016/j.pediatrneurol.2015.08.018}, } @article{UBHD-68572631, author={Ebrahimi-Fakhari, Darius and Wahlster, Lara and Bartz, Fabian and Werenbeck-Ueding, Jennifer and Praggastis, Maria and Zhang, Jessie and Joggerst-Thomalla, Brigitte and Theiß, Susanne and Grimm, Dirk and Ory, Daniel S. and Runz, Heiko}, title={Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells}, year={2016}, pages={3588-3599}, language={eng}, issn={1460-2083}, volume={25}, number={16}, note={Gesehen am 04.05.2020}, journal={Human molecular genetics}, doi={10.1093/hmg/ddw204}, } @article{UBHD-68677395, author={Ebrahimi-Fakhari, Darius and Wahlster, Lara}, title={Restoring impaired protein metabolism in Parkinson's disease}, subtitle={TFEB-mediated autophagy as a novel therapeutic target}, year={2013}, pages={1346-1346}, language={eng}, issn={1531-8257}, volume={28}, number={10}, note={Gesehen am 07.01.2021}, journal={Movement disorders}, doi={10.1002/mds.25601}, } @article{UBHD-68330828, author={Ebrahimi-Fakhari, Darius and Saffari, Afshin and Wahlster, Lara}, title={Using tuberous sclerosis complex to understand the impact of MTORC1 signaling on mitochondrial dynamics and mitophagy in neurons}, year={2017}, pages={754-756}, language={eng}, issn={1554-8635}, volume={13}, number={4}, note={Gesehen am 21.11.2018}, journal={Autophagy}, doi={10.1080/15548627.2016.1277310}, } @article{UBHD-68068845, author={Huemer, Martina and Ebrahimi-Fakhari, Darius}, title={Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations}, year={2015}, pages={905-914}, language={eng}, issn={1573-2665}, volume={38}, number={5}, note={Gesehen am 03.01.2017}, journal={Journal of inherited metabolic disease}, doi={10.1007/s10545-015-9836-6}, } @article{UBHD-68582516, author={Hu, Lin-Yan and Ebrahimi-Fakhari, Darius}, title={An 8-year old boy with continuous spikes and waves during slow sleep presenting with positive onconeuronal antibodies}, year={2015}, pages={257-261}, language={eng}, issn={1532-2130}, volume={19}, number={2}, note={Available online 23 December 2014 ; Gesehen am 02.06.2020}, journal={European journal of paediatric neurology}, doi={10.1016/j.ejpn.2014.12.012}, } @article{UBHD-68576386, author={Klein, Christine and Lang, Anthony and Warrenburg, Bart P. van de and Sue, Carolyn M. and Tabrizi, Sarah J. and Bertram, Lars and Mercimek‐Mahmutoglu, Saadet and Ebrahimi-Fakhari, Darius and Warner, Thomas T. and Durr, Alexandra and Assmann, Birgit and Kostic, Vladimir and Lohmann, Katja and Marras, Connie}, title={Reply letter to Jinnah “Locus pocus” and Albanese “Complex dystonia is not a category in the new 2013 consensus classification”}, subtitle={Necessary evolution, no magic!}, year={2016}, pages={1760-1762}, language={eng}, issn={1531-8257}, volume={31}, number={11}, note={Gesehen am 13.05.2020}, journal={Movement disorders}, doi={10.1002/mds.26763}, } @article{UBHD-68576442, author={Klionsky, Daniel and Oehme, Ina and Hamacher-Brady, Anne and Rasse, Tobias M. and Schuck, Sebastian and Ebrahimi-Fakhari, Darius and Fortunato, Franco and Lemberg, Marius and Parlato, Rosanna}, title={Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)}, year={2016}, pages={1-222}, language={eng}, issn={1554-8635}, volume={12}, number={1}, note={Gesehen am 13.05.2020}, journal={Autophagy}, doi={10.1080/15548627.2015.1100356}, } @article{UBHD-68575220, author={Marras, Connie and Lang, Anthony and Warrenburg, Bart P. van de and Sue, Carolyn M. and Tabrizi, Sarah J. and Bertram, Lars and Mercimek‐Mahmutoglu, Saadet and Ebrahimi-Fakhari, Darius and Warner, Thomas T. and Durr, Alexandra and Assmann, Birgit and Lohmann, Katja and Kostic, Vladimir and Klein, Christine}, title={Nomenclature of genetic movement disorders}, subtitle={recommendations of the international Parkinson and movement disorder society task force}, year={2016}, pages={436-457}, language={eng}, issn={1531-8257}, volume={31}, number={4}, note={Gesehen am 11.05.2020}, journal={Movement disorders}, doi={10.1002/mds.26527}, } @article{UBHD-68654741, author={McFarland, Nikolaus R. and Dimant, Hemi and Kibuuka, Laura and Ebrahimi-Fakhari, Darius and Desjardins, Cody A. and Danzer, Karin M. and Danzer, Michael and Fan, Zhanyun and Schwarzschild, Michael A. and Hirst, Warren and McLean, Pamela J.}, title={Chronic treatment with novel small molecule Hsp90 inhibitors rescues striatal dopamine levels but not α-synuclein-induced neuronal cell loss}, year={2014}, pages={8 S.}, language={eng}, issn={1932-6203}, volume={9(2014}, note={Gesehen am 28.10.2020}, journal={PLOS ONE}, doi={10.1371/journal.pone.0086048}, } @article{UBHD-68259938, author={Saffari, Afshin and K{\"o}lker, Stefan and Hoffmann, Georg F. and Ebrahimi-Fakhari, Darius}, title={Linking mitochondrial dysfunction to neurodegeneration in lysosomal storage diseases}, year={2017}, pages={631-640}, language={eng}, issn={1573-2665}, volume={40}, number={5}, note={First online: 05 May 2017 ; Gesehen am 11.06.2018}, journal={Journal of inherited metabolic disease}, doi={10.1007/s10545-017-0048-0}, } @article{UBHD-68870948, author={Saffari, Afshin and Schr{\"o}ter, Julian and Garbade, Sven and Alecu, Julian E. and Ebrahimi-Fakhari, Darius and Hoffmann, Georg F. and K{\"o}lker, Stefan and Ries, Markus and Syrbe, Steffen}, title={Quantitative retrospective natural history modeling of WDR45-related developmental and epileptic encephalopathy}, subtitle={a systematic cross-sectional analysis of 160 published cases}, year={2022}, pages={1-13}, language={eng}, issn={1554-8635}, volume={18}, number={7}, note={Online ver{\"o}ffentlicht: 24. November 2021 ; Gesehen am 11.10.2022}, journal={Autophagy}, doi={10.1080/15548627.2021.1990671}, } @article{UBHD-68991722, author={Unni, Vivek K. and Ebrahimi-Fakhari, Darius and Vanderburg, Charles R. and McLean, Pamela J. and Hyman, Bradley T.}, title={Studying protein degradation pathways in vivo using a cranial window-based approach}, year={2011}, pages={194-200}, language={eng}, issn={1095-9130}, volume={53}, number={3 vom: M{\"a}rz}, note={Erstmals am 25. Dezember 2010 online ver{\"o}ffentlicht ; Gesehen am 01.12.2022}, journal={Methods}, doi={10.1016/j.ymeth.2010.12.032}, } @article{UBHD-68770110, author={Ziegler, Marvin and Russell, Bianca E. and Eberhardt, Kathrin and Geisel, Gregory and D'Amore, Angelica and Sahin, Mustafa and Kornblum, Harley I. and Ebrahimi-Fakhari, Darius}, title={Blended phenotype of Silver-Russell Syndrome and SPG50 caused by maternal isodisomy of chromosome 7}, year={2021}, pages={1-6}, language={eng}, issn={2376-7839}, volume={7}, note={Gesehen am 12.08.2021 ; First published: December 29, 2020}, journal={Neurology}, doi={10.1212/NXG.0000000000000544}, }