@article{UBHD-69318673,
  author={Akula, Shyam K. and Quiroz, Vicente and D'Gama, Alissa M. and Chiu, Michelle Y. and Koh, Hyun Yong and Saffari, Afshin and Zaman, Zainab and Tam, Amy and Srouji, Rasha and Valentine, Rozalia and Wiltrout, Kimberly and Pinto, Anna and Harini, Chellamani and Pearl, Phillip L. and Poduri, Annapurna and Ebrahimi-Fakhari, Darius},
  title={The spectrum of movement disorders in young children with ARX-related epilepsy-dyskinesia syndrome},
  year={2024},
  pages={1643-1647},
  language={eng},
  issn={2328-9503},
  volume={11},
  number={6},
  note={Gesehen am 14.03.2025},
  journal={Annals of Clinical and Translational Neurology},
  doi={10.1002/acn3.52055},
}
@article{UBHD-69330943,
  author={Dafsari, Hormos Salimi and Martinelli, Diego and Saffari, Afshin and Ebrahimi-Fakhari, Darius and Fanto, Manolis and Dionisi-Vici, Carlo and Jungbluth, Heinz},
  title={An update on autophagy disorders},
  year={2025},
  pages={1-19},
  language={eng},
  issn={1573-2665},
  volume={48},
  note={Online verf{\"u}gbar: 17. Oktober 2024 ; Gesehen am 14.04.2025},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12798},
}
@article{UBHD-69318531,
  author={Driedger, Jan Henje and Schr{\"o}ter, Julian and Hertzberg, Christoph and Weschke, Bernhard and Kaindl, Angela M. and L{\"u}cke, Thomas and Thiels, Charlotte and Klotz, Kerstin A. and Fazeli, Walid and Rostásy, Kevin and Wiethoff-Ubrig, Lucia and Kaiser, Olaf and Trollmann, Regina and Mammadova, Dilbar and Schubert-Bast, Susanne and Bach, Alexia and Eckenweiler, Matthias and Sch{\"o}nberger, Jan and Martakis, Kyriakos and Hahn, Andreas and Brockmann, Knut and Dreha-Kulaczewski, Steffi and Weiss, Deike and Denecke, Jonas and Muhle, Hiltrud and Arélin, Maria and Merkenschlager, Andreas and Borggr{\"a}fe, Ingo and Roser, Timo and Ebrahimi-Fakhari, Daniel and Fiedler, Barbara and Schlump, Jan-Ulrich and K{\"o}ster, Ilka and Korenke, Christoph and Alber, Michael and Ruf, Susanne and Feucht, Martha and Scholl, Theresa and Syrbe, Steffen and Saffari, Afshin},
  title={Long-term neuropsychologic outcome of pre-emptive mTOR inhibitor treatment in children with tuberous sclerosis complex (TSC) under 4 months of age (PROTECT), a two-arm, randomized, observer-blind, controlled phase IIb national multicentre clinical trial},
  subtitle={study protocol},
  year={2025},
  pages={1-10},
  language={eng},
  issn={1750-1172},
  volume={20},
  note={Gesehen am 14.03.2025},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/s13023-024-03495-1},
}
@article{UBHD-68697308,
  author={Driedger, Jan Henje and Saffari, Afshin and Hoffmann, Georg F. and K{\"o}lker, Stefan and Syrbe, Steffen},
  title={The phenotypic spectrum of PRRT2-associated paroxysmal neurologic disorders in childhood},
  year={2020},
  pages={1-14},
  language={eng},
  issn={2227-9059},
  volume={8},
  note={Gesehen am 09.02.2021},
  journal={Biomedicines},
  doi={10.3390/biomedicines8110456},
}
@article{UBHD-69008556,
  author={Ebrahimi-Fakhari, Darius and Saffari, Afshin and Pearl, Phillip L.},
  title={Childhood-onset hereditary spastic paraplegia and its treatable mimics},
  year={2022},
  pages={436-444},
  language={eng},
  issn={1096-7206},
  volume={137},
  number={4},
  note={Online verf{\"u}gbar 24 Juni 2021, Artikelversion 8 Dezember 2022 ; Gesehen am 20.01.2023},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2021.06.006},
}
@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},
}
@article{UBHD-68711529,
  author={Ebrahimi-Fakhari, Darius and Saffari, Afshin and Ziegler, Andreas and K{\"o}lker, Stefan},
  title={Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia},
  year={2020},
  pages={2929-2944},
  language={eng},
  issn={1460-2156},
  volume={143},
  number={10 vom: Okt.},
  note={Gesehen am 11.03.2021},
  journal={Brain},
  doi={10.1093/brain/awz307},
}
@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-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-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-68558308,
  author={Hayes, Jennifer and Hilgenfeld, Tim and Ziegler, Andreas and Saffari, Afshin and Sam, Georges and Hayes, John M. and Pietsch, Adriana and Jost, Marie and Heiland, Sabine and Bendszus, Martin and Wick, Wolfgang and Weiler, Markus},
  title={Quantitative MR neurography biomarkers in 5q-linked spinal muscular atrophy},
  year={2019},
  pages={E653-E664},
  language={eng},
  issn={1526-632X},
  volume={93},
  number={7},
  note={Gesehen am 26.03.2020},
  journal={Neurology},
  doi={10.1212/WNL.0000000000007945},
}
@article{UBHD-68865011,
  author={Keßler, Tobias and Latzer, Pauline and Schmid, Dominic and Warnken, Uwe and Saffari, Afshin and Ziegler, Andreas and Hayes, Jennifer and M{\"o}hlenbruch, Markus Alfred and Ulfert, Christian and Herweh, Christian and Wildemann, Brigitte and Wick, Wolfgang and Weiler, Markus},
  title={Cerebrospinal fluid proteomic profiling in nusinersen-treated patients with spinal muscular atrophy},
  year={2020},
  pages={650-661},
  language={eng},
  issn={1471-4159},
  volume={153},
  number={5},
  note={First published: 06 January 2020 ; Gesehen am 12.01.2022},
  journal={Journal of neurochemistry},
  doi={10.1111/jnc.14953},
  url={https://doi.org/10.1111/jnc.14953},
  library={UB},
}
@article{UBHD-68585218,
  author={M{\"a}rz, Keno and Hafezi, Mohammadreza and Weller, T. and Saffari, Afshin and Nolden, M. and Fard, N. and Majlesara, Ali and Zelzer, S. and Maleshkova, M. and Volovyk, M. and Soleymanzadeh Gharabaghi, Negin and Wagner, Martin and Emami, Golnaz and Engelhardt, S. and Fetzer, A. and Kenngott, Hannes G{\"o}tz and Rezai, N. and Rettinger, A. and Studer, R. and Mehrabi, Arianeb and Maier-Hein, L.},
  title={Toward knowledge-based liver surgery},
  subtitle={holistic information processing for surgical decision support},
  year={2015},
  pages={749-759},
  language={eng},
  issn={1861-6429},
  volume={10},
  number={6},
  note={Gesehen am 08.06.2020},
  journal={International journal of computer assisted radiology and surgery},
  doi={10.1007/s11548-015-1187-0},
}
@article{UBHD-68866808,
  author={Saffari, Afshin and Cannet, Claire and Blaschek, Astrid and Hahn, Andreas and Hoffmann, Georg F. and Johannsen, Jessika and Kirsten, Romy and Kockaya, Musa and K{\"o}lker, Stefan and M{\"u}ller-Felber, Wolfgang and Roos, Andreas and Sch{\"a}fer, Hartmut and Schara, Ulrike and Spraul, Manfred and Trefz, Friedrich K. and Vill, Katharina and Wick, Wolfgang and Weiler, Markus and Okun, J{\"u}rgen G. and Ziegler, Andreas},
  title={1H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy},
  year={2021},
  pages={1-16},
  language={eng},
  issn={1750-1172},
  volume={16},
  number={Artikel-ID 441},
  note={Im Text ist "1" hochgestellt ; Gesehen am 15.01.2022},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/s13023-021-02075-x},
  url={https://doi.org/10.1186/s13023-021-02075-x},
  library={UB},
}
@article{UBHD-68716876,
  author={Saffari, Afshin and Ziegler, Andreas and Merkenschlager, Andreas and Kr{\"u}ger, Stefan and K{\"o}lker, Stefan and Hoffmann, Georg F. and Syrbe, Steffen},
  title={Axenfeld-Rieger anomaly and neuropsychiatric problems},
  subtitle={more than meets the eye},
  year={2020},
  pages={192-197},
  language={eng},
  issn={1439-1899},
  volume={51},
  number={03},
  note={Gesehen am 25.03.2021},
  journal={Neuropediatrics},
  doi={10.1055/s-0039-3402037},
}
@article{UBHD-69195260,
  author={Saffari, Afshin and Kellner, Melanie and Jordan, Catherine and Rosengarten, Helena and Mo, Alisa and Zhang, Bo and Strelko, Oleksandr and Neuser, Sonja Anna and Davis, Marie Y and Yoshikura, Nobuaki and Futamura, Naonobu and Takeuchi, Tomoya and Nabatame, Shin and Ishiura, Hiroyuki and Tsuji, Shoji and Aldeen, Huda Shujaa and Cali, Elisa and Rocca, Clarissa and Houlden, Henry and Efthymiou, Stephanie and Assmann, Birgit and Yoon, Grace and Trombetta, Bianca A and Kivis{\"a}kk, Pia and Eichler, Florian and Nan, Haitian and Takiyama, Yoshihisa and Tessa, Alessandra and Santorelli, Filippo M and Sahin, Mustafa and Blackstone, Craig and Yang, Edward and Sch{\"u}le-Freyer, Rebecca and Ebrahimi-Fakhari, Darius},
  title={The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia},
  subtitle={SPG15},
  year={2023},
  pages={2003-2015},
  language={eng},
  issn={1460-2156},
  volume={146},
  number={5 vom: Mai},
  note={Online verf{\"u}gbar: 31. Oktober 2022, Artikelversion: 21. Januar 2023 ; Gesehen am 26.03.2024},
  journal={Brain},
  doi={10.1093/brain/awac391},
}
@article{UBHD-68442713,
  author={Saffari, Afshin and Weiler, Markus and Hoffmann, Georg F. and Ziegler, Andreas},
  title={Gentherapien f{\"u}r neuromuskul{\"a}re Erkrankungen},
  year={2019},
  pages={809-816},
  language={ger},
  issn={1433-0407},
  volume={90},
  number={8},
  note={Gesehen am 21.10.2019},
  journal={Der Nervenarzt},
  doi={10.1007/s00115-019-0761-z},
}
@article{UBHD-69346284,
  author={Saffari, Afshin and Niesert, Moritz and Cannet, Claire and Blaschek, Astrid and Hahn, Andreas and Johannsen, Jessika and Kockaya, Musa and K{\"o}lbel, Heike and Hoffmann, Georg F. and Claus, Peter and K{\"o}lker, Stefan and M{\"u}ller-Felber, Wolfgang and Roos, Andreas and Schara-Schmidt, Ulrike and Trefz, Friedrich K. and Vill, Katharina and Wick, Wolfgang and Weiler, Markus and Okun, J{\"u}rgen G. and Ziegler, Andreas},
  title={Identification of biochemical determinants for diagnosis and prediction of severity in 5q spinal muscular atrophy using 1H-nuclear magnetic resonance metabolic profiling in patient-derived biofluids},
  year={2024},
  pages={1-19},
  language={eng},
  issn={1422-0067 and 1661-6596},
  volume={25},
  note={Die Ziffer 1 ist im Titel hochgestellt ; Gesehen am 20.05.2025},
  journal={International journal of molecular sciences},
  doi={10.3390/ijms252212123},
}
@book{UBHD-68255946,
  author={Saffari, Afshin},
  organization={Universit{\"a}t Heidelberg},
  title={The impact of the TSC-mTOR pathway on spatiotemporal dynamics of mitochondrial metabolism in neuronal models of tuberous sclerosis complex},
  address={Heidelberg},
  year={2017},
  pages={X, 121 Bl{\"a}tter},
  language={eng},
  school={Dissertation,  Ruprecht-Karls-Universit{\"a}t Heidelberg,  2018},
  library={UB [Signatur: 2018 U 374]},
}
@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-68389614,
  author={Saffari, Afshin and K{\"o}lker, Stefan and Hoffmann, Georg F. and Weiler, Markus and Ziegler, Andreas},
  title={Novel challenges in spinal muscular atrophy},
  subtitle={How to screen and whom to treat?},
  year={2019},
  pages={197-205},
  language={eng},
  issn={2328-9503},
  volume={6},
  number={1},
  note={First published: 13 November 2018 ; Gesehen am 14.05.2019},
  journal={Annals of Clinical and Translational Neurology},
  doi={10.1002/acn3.689},
}
@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-68431902,
  author={Saffari, Afshin and Br{\"o}sse, Ines and Tilburg, Cornelis M. van and Hoffmann, Georg F. and K{\"o}lker, Stefan and Witt, Olaf and Milde, Till and Ziegler, Andreas and Syrbe, Steffen},
  title={Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age - a multicenter retrospective study},
  year={2019},
  pages={1-13},
  language={eng},
  issn={1750-1172},
  volume={14},
  number={Artikel-ID 96},
  note={Gesehen am 20.09.2019},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/s13023-019-1077-6},
  url={https://doi.org/10.1186/s13023-019-1077-6},
  library={UB},
}
@book{UBHD-68412598,
  author={Saffari, Afshin and Br{\"o}sse, Ines and Tilburg, Cornelis M. van and Hoffmann, Georg F. and K{\"o}lker, Stefan and Witt, Olaf and Milde, Till and Ziegler, Andreas and Syrbe, Steffen},
  title={Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age},
  subtitle={a multicenter retrospective study},
  publisher={BioMed Central},
  address={London},
  year={2019},
  pages={1 Online-Ressource},
  language={eng},
  note={In: Orphanet journal of rare diseases, 14 (2019), Nr. 96. pp. 1-13. ISSN 1750-1172},
  url={https://nbn-resolving.org/urn:nbn:de:bsz:16-heidok-264004},
  library={UB},
}
@article{UBHD-69354691,
  author={Tapken, Ines Marlene and Schweitzer, Theresa and Paganin, Martina and Sch{\"u}ning, Tobias and Detering, Nora Tula and Niesert, Moritz and Saffari, Afshin and Hensel, Niko and Ziegler, Andreas},
  title={The systemic complexity of a monogenic disease},
  subtitle={the molecular network of spinal muscular atrophy},
  year={2025},
  pages={580-596},
  language={eng},
  issn={1460-2156},
  volume={148},
  number={2 vom: Feb.},
  note={Ver{\"o}ffentlicht: 26. August 2024 ; Gesehen am 10.06.2025},
  journal={Brain},
  doi={10.1093/brain/awae272},
}
@article{UBHD-69098314,
  author={Thalwitzer, Kim M. and Driedger, Jan Henje and Xian, Julie and Saffari, Afshin and Zacher, Pia and B{\"o}lsterli, Bigna K. and McKeown Ruggiero, Sarah and Sullivan, Katie Rose and Datta, Alexandre N. and Kellinghaus, Christoph and Althaus, J{\"u}rgen and Wiemer-Kruel, Adelheid and van Baalen, Andreas and Pampel, Armin and Alber, Michael and Braakman, Hilde M. H. and Debus, Otfried Martin and Denecke, Jonas and Hobbiebrunken, Elke and Breitweg, Ina and Diehl, Danielle and Eitel, Hans Christian and Gburek-Augustat, Janina and Preisel, Martin and Schlump, Jan-Ulrich and Laufs, Mirjam and Mammadova, Dilbar and Wurst, Carsten and Prager, Christine and L{\"o}hr-Nilles, Christa and Martin, Peter and Garbade, Sven and Platzer, Konrad and Benkel-Herrenbrueck, Ira and Egler, Kerstin and Fazeli, Walid and Lemke, Johannes R. and Runkel, Eva and Klein, Barbara and Linden, Tobias and Schr{\"o}ter, Julian and Steffeck, Heike and Thies, Bastian and Deimling, Florian von and Illsinger, Sabine and Borggr{\"a}fe, Ingo and Classen, Georg and Wieczorek, Dagmar and Ramantani, Georgia and K{\"o}lker, Stefan and Hoffmann, Georg F. and Ries, Markus and Helbig, Ingo and Syrbe, Steffen},
  title={Natural history and developmental trajectories of individuals with disease-causing variants in STXBP1},
  year={2023},
  pages={e879-e891},
  language={eng},
  issn={1526-632X},
  volume={101},
  number={9},
  note={Gesehen am 17.07.2023},
  journal={Neurology},
  doi={10.1212/WNL.0000000000207550},
}
@article{UBHD-69357131,
  author={Wiseman, Jessica P. and Scarrott, Joseph M and Alves-Cruzeiro, João and Saffari, Afshin and B{\"o}ger, Cedric and Karyka, Evangelia and Dawes, Emily and Davies, Alexandra K and Marchi, Paolo M and Graves, Emily and Fernandes, Fiona and Yang, Zih-Liang and Coldicott, Ian and Hirst, Jennifer and Webster, Christopher P and Highley, J Robin and Hackett, Neil and Angyal, Adrienn and Silva, Thushan de and Higginbottom, Adrian and Shaw, Pamela J and Ferraiuolo, Laura and Ebrahimi-Fakhari, Darius and Azzouz, Mimoun},
  title={Pre-clinical development of AP4B1 gene replacement therapy for hereditary spastic paraplegia type 47},
  year={2024},
  pages={2882-2917},
  language={eng},
  issn={1757-4684},
  volume={16},
  number={11},
  note={Gesehen am 17.06.2025},
  journal={EMBO molecular medicine},
  doi={10.1038/s44321-024-00148-5},
}
@article{UBHD-68806385,
  author={Ziegler, Andreas and Wilichowski, Ekkehard and Schara, Ulrike and Hahn, Andreas and M{\"u}ller-Felber, Wolfgang and Johannsen, Jessika and Hagen, Maja von der and Moers, Arpad von and Stoltenburg, Corinna and Saffari, Afshin and Walter, Maggie C. and Husain, Ralf and Pechmann, Astrid and K{\"o}hler, Cornelia and Horber, Veronka and Schwartz, Oliver and Kirschner, Janbernd},
  title={Handlungsempfehlungen zur Gentherapie der spinalen Muskelatrophie mit Onasemnogene Abeparvovec - AVXS-101},
  subtitle={Konsensuspapier der deutschen Vertretung der Gesellschaft f{\"u}r Neurop{\"a}diatrie (GNP) und der deutschen Behandlungszentren unter Mitwirkung des Medizinisch-Wissenschaftlichen Beirates der Deutschen Gesellschaft f{\"u}r Muskelkranke (DGM) e.V.},
  year={2020},
  pages={518-529},
  language={ger},
  issn={1433-0407},
  volume={91},
  number={6},
  note={Gesehen am 30.11.2021},
  journal={Der Nervenarzt},
  doi={10.1007/s00115-020-00919-8},
  url={https://doi.org/10.1007/s00115-020-00919-8},
  library={UB},
}