| Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia D Ebrahimi-Fakhari, J Teinert, R Behne, M Wimmer, A D'amore, ... Brain 143 (10), 2929-2944, 2020 | 69 | 2020 |
| AP-4-mediated axonal transport controls endocannabinoid production in neurons AK Davies, JE Alecu, M Ziegler, CG Vasilopoulou, F Merciai, H Jumo, ... Nature Communications 13 (1), 1058, 2022 | 33 | 2022 |
| Intrathecal AAV9/AP4M1 gene therapy for hereditary spastic paraplegia 50 shows safety and efficacy in preclinical studies X Chen, T Dong, Y Hu, R De Pace, R Mattera, K Eberhardt, M Ziegler, ... The Journal of clinical investigation 133 (10), 2023 | 28 | 2023 |
| Systematic analysis of brain MRI findings in adaptor protein complex 4–associated hereditary spastic paraplegia D Ebrahimi-Fakhari, JE Alecu, M Ziegler, G Geisel, C Jordan, A D'Amore, ... Neurology 97 (19), e1942-e1954, 2021 | 22 | 2021 |
| High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia D Ebrahimi-Fakhari, JE Alecu, B Brechmann, M Ziegler, K Eberhardt, ... Brain communications 3 (4), fcab221, 2021 | 16 | 2021 |
| Blended phenotype of Silver-Russell syndrome and SPG50 caused by maternal isodisomy of chromosome 7 M Ziegler, BE Russell, K Eberhardt, G Geisel, A D'Amore, M Sahin, ... Neurology: Genetics 7 (1), e544, 2020 | 9 | 2020 |
| Plasma neurofilament light chain is elevated in adaptor protein complex 4‐related hereditary spastic paraplegia JE Alecu, A Saffari, M Ziegler, C Jordan, A Tam, S Kim, E Leung, ... Movement Disorders 38 (9), 1742-1750, 2023 | 8 | 2023 |
| Functional validation of novel variants in B4GALNT1 associated with early‐onset complex hereditary spastic paraplegia with impaired ganglioside synthesis JE Alecu, Y Ohmi, RH Bhuiyan, K Inamori, T Nitta, A Saffari, H Jumo, ... American Journal of Medical Genetics Part A 188 (9), 2590-2598, 2022 | 7 | 2022 |
| Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early‐onset psychosis JE Alecu, A Saffari, H Jumo, M Ziegler, O Strelko, CA Brownstein, ... Annals of Clinical and Translational Neurology 9 (4), 570-576, 2022 | 6 | 2022 |
| International AP-4-HSP registry and natural history study. Systematic analysis of brain MRI findings in adaptor protein complex 4-associated hereditary spastic paraplegia D Ebrahimi-Fakhari, JE Alecu, M Ziegler, G Geisel, C Jordan, A D'Amore, ... Neurology 97 (19), e1942-e1954, 2021 | 6 | 2021 |
| Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4M1-associated hereditary spastic paraplegia (SPG50) K Eberhardt, H Jumo, A D'Amore, JE Alecu, M Ziegler, WA Saber, M Sahin, ... Stem cell research 53, 102335, 2021 | 5 | 2021 |
| High-content screening identifies a small molecule that restores AP-4-dependent protein trafficking in neuronal models of AP-4-associated hereditary spastic paraplegia A Saffari, B Brechmann, C Böger, WA Saber, H Jumo, D Whye, D Wood, ... Nature Communications 15 (1), 584, 2024 | 3 | 2024 |
| High-Content Small Molecule Screen Identifies a Novel Compound That Restores AP-4-Dependent Protein Trafficking in Neuronal Models of AP-4-Associated Hereditary Spastic Paraplegia A Saffari, B Brechmann, C Boeger, WA Saber, D Whye, D Wood, ... Research Square, 2023 | 3 | 2023 |
| AP-4 mediates vesicular transport of the 2-AG endocannabinoid producing enzyme DAGLB AK Davies, M Ziegler, H Jumo, WA Saber, D Ebrahimi-Fakhari, ... BiorXiv, 2020.10. 25.353995, 2020 | 3 | 2020 |
| AP-4-mediated axonal transport controls endocannabinoid production in neurons-Image analysis pipelines AK Davies, JE Alecu, M Ziegler, CG Vasilopoulou, F Merciai, H Jumo, ... Zenodo, 2021 | 1 | 2021 |
| Systematic Analysis of Brain MRI Findings in Adaptor Protein Complex 4–associated Hereditary Spastic Paraplegia Reveals Patterns for Diagnosis and Disease Progression (S39. 010) D Ebrahimi-Fakhari, J Alecu, M Ziegler, A Saffari, S Prabhu, M Sahin, ... Neurology 98 (18_supplement), 2327, 2022 | | 2022 |
| Development of an Intrathecal AAV9/AP4M1 Gene Therapy for Hereditary Spastic Paraplegia 50 (SPG50) X Chen, T Dong, Y Hu, R De Pace, R Mattera, K Eberhardt, M Ziegler, ... MOLECULAR THERAPY 30 (4), 32-33, 2022 | | 2022 |
| High-Throughput Imaging of ATG9A Distribution as a Diagnostic Functional Assay for Adaptor Protein Complex 4: Associated Hereditary Spastic Paraplegia (AP-4-HSP) JE Alecu, M Ziegler, B Brechmann, K Eberhardt, H Jumo, A D’Amore, ... Neuropediatrics 52 (S 01), FV3. 03, 2021 | | 2021 |
| Systematic Analysis of Brain MRI Findings in Adaptor Protein Complex 4-Associated Hereditary Spastic Paraplegia Reveals Patterns for Diagnosis and Disease Progression D Ebrahimi-Fakhari, JE Alecu, M Ziegler, G Geisel, C Jordan, A D'Amore, ... ANNALS OF NEUROLOGY 90, S189-S189, 2021 | | 2021 |
| High-Throughput Imaging of ATG9A Distribution as a Diagnostic Functional Assay for Adaptor Protein Complex 4-Associated Hereditary Spastic Paraplegia J Alecu, B Brechmann, M Ziegler, K Eberhardt, H Jumo, A D'Amore, ... ANNALS OF NEUROLOGY 90, S136-S136, 2021 | | 2021 |
