Saffari, Afshin Dr. med.Universität HeidelbergHeidelberg
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Co-Autoren (Uni Heidelberg)
- Wick, Wolfgang (4)
- Driedger, Jan Henje (3)
- Schröter, Julian (3)
- Milde, Till (2)
- Tilburg, Cornelis M. van (2)
- Brösse, Ines (2)
- Okun, Jürgen G. (2)
- Niesert, Moritz (2)
- Garbade, Sven (2)
- Trefz, Friedrich K. (2)
- Ries, Markus (2)
- Hayes, Jennifer (2)
- Witt, Olaf (2)
- Bendszus, Martin (1)
- Hafezi, Mohammadreza (1)
- Wagner, Martin (1)
- Heiland, Sabine (1)
- Wildemann, Brigitte (1)
- Keßler, Tobias (1)
- Hilgenfeld, Tim (1)
- Assmann, Birgit (1)
- Kirsten, Romy (1)
- Majlesara, Ali (1)
- Soleymanzadeh Gharabaghi, Negin (1)
- Ulfert, Christian (1)
- Emami, Golnaz (1)
- Warnken, Uwe (1)
- Herweh, Christian (1)
- Thalwitzer, Kim M. (1)
- Schmid, Dominic (1)
- Sam, Georges (1)
- Schüle-Freyer, Rebecca (1)
- Mehrabi, Arianeb (1)
- (weitere Einträge vorhanden...)
Co-Autoren (extern)
- Ramantani, Georgia (1)
- Klein, Barbara (1)
- Schara, Ulrike (1)
- Schara, Ulrike (1)
- März, Keno (1)
- Schubert-Bast, Susanne (1)
- Moers, Arpad von (1)
- Martakis, Kyriakos (1)
- Schönberger, Jan (1)
- Martinelli, Diego (1)
- Dionisi-Vici, Carlo (1)
- Brockmann, Knut (1)
- Hagen, Maja von der (1)
- Dafsari, Hormos Salimi (1)
- Pietsch, Adriana (1)
- Jost, Marie (1)
- Hayes, John M. (1)
- Claus, Peter (1)
- Walter, Maggie C. (1)
- Roos, Andreas (1)
- Wilichowski, Ekkehard (1)
- Poduri, Annapurna (1)
- Turner, Daria (1)
- Spraul, Manfred (1)
- Rothberg, Jonathan M. (1)
- Polleux, Franck (1)
- Lu, Jenny (1)
- Lipton, Jonathan O. (1)
- Lewis, Tommy L. (1)
- Han, Min-Joon (1)
- Byrne, Susan (1)
- Klein, Christine (1)
- Weschke, Bernhard (1)
- (weitere Einträge vorhanden...)
Neueste Publikationen in heiBIB 
(ingesamt sind 29 Publikationen erfasst)
- Tapken, Ines Marlene: The systemic complexity of a monogenic disease : the molecular network of spinal muscular atrophy / Ines Tapken, Theresa Schweitzer, Martina Paganin, Tobias Schüning, Nora T Detering, Gaurav Sharma, M… , February 2025. - 17 S. : Diagramme
In: Brain, ISSN 1460-2156. 148(2025), 2 vom: Feb., Seite 580-596
DOI: 10.1093/brain/awae272
- Dafsari, Hormos Salimi: An update on autophagy disorders / Hormos Salimi Dafsari, Diego Martinelli, Afshin Saffari, Darius Ebrahimi-Fakhari, Manolis Fanto, Car… , January 2025. - 19 S. : Illustrationen
In: Journal of inherited metabolic disease, ISSN 1573-2665. 48(2025), 1 vom: Jan., Artikel-ID e12798, Seite 1-19
DOI: 10.1002/jimd.12798
- Driedger, Jan Henje: 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 : study protocol / Jan H. Driedger, Julian Schröter, Christoph Hertzberg, Bernhard Weschke, Angela M. Kaindl, Thomas Lü… , 06 January 2025. - 10 S.
In: Orphanet journal of rare diseases, ISSN 1750-1172. 20(2025), 1, Artikel-ID 2, Seite 1-10
DOI: 10.1186/s13023-024-03495-1
- Wiseman, Jessica P.: Pre-clinical development of AP4B1 gene replacement therapy for hereditary spastic paraplegia type 47 / Jessica P Wiseman, Joseph M Scarrott, João Alves-Cruzeiro, Afshin Saffari, Cedric Böger, Evangelia K… , 2 October 2024. - 36 S.
In: EMBO molecular medicine, ISSN 1757-4684. 16(2024), 11, Seite 2882-2917
DOI: 10.1038/s44321-024-00148-5
- Saffari, Afshin: 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 / Afshin Saffari, Moritz Niesert, Claire Cannet, Astrid Blaschek, Andreas Hahn, Jessika Johannsen, Mus… , 12 November 2024. - 19 S. : Illustrationen
In: International journal of molecular sciences, ISSN 1422-0067. 25(2024), 22, Artikel-ID 12123, Seite 1-19
DOI: 10.3390/ijms252212123
- Akula, Shyam K.: The spectrum of movement disorders in young children with ARX-related epilepsy-dyskinesia syndrome / Shyam K. Akula, Vicente Quiroz, Alissa M. D'Gama, Michelle Y. Chiu, Hyun Yong Koh, Afshin Saffari, Z… , May 6, 2024. - 5 S.
In: Annals of Clinical and Translational Neurology, ISSN 2328-9503. 11(2024), 6, Seite 1643-1647
DOI: 10.1002/acn3.52055
- Saffari, Afshin: The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia : SPG15 / Afshin Saffari, Melanie Kellner, Catherine Jordan, Helena Rosengarten, Alisa Mo, Bo Zhang, Oleksandr… , May 2023. - 13 S. : Illustrationen
In: Brain, ISSN 1460-2156. 146(2023), 5 vom: Mai, Seite 2003-2015
DOI: 10.1093/brain/awac391
- Thalwitzer, Kim M.: Natural history and developmental trajectories of individuals with disease-causing variants in STXBP1 / Kim M. Thalwitzer, Jan H. Driedger, Julie Xian, Afshin Saffari, Pia Zacher, Bigna K. Bölsterli, Sara… , July 05, 2023. - 13 S.
In: Neurology, ISSN 1526-632X. 101(2023), 9, Seite e879-e891
DOI: 10.1212/WNL.0000000000207550
- Ebrahimi-Fakhari, Darius: Childhood-onset hereditary spastic paraplegia and its treatable mimics / Darius Ebrahimi-Fakhari, Afshin Saffari, Phillip L. Pearl, 8 December 2022. - 9 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 137(2022), 4, Seite 436-444
DOI: 10.1016/j.ymgme.2021.06.006
- Saffari, Afshin: Quantitative retrospective natural history modeling of WDR45-related developmental and epileptic encephalopathy : a systematic cross-sectional analysis of 160 published cases / Afshin Saffari, Julian Schröter, Sven F. Garbade, Julian E. Alecu, Darius Ebrahimi-Fakhari, Georg F.… , 2022. - 13 S.
In: Autophagy, ISSN 1554-8635. 18(2022), 7, Seite 1-13
DOI: 10.1080/15548627.2021.1990671
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