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Neurology. Genetics|July 23, 2021
Disease Severity and Motor Impairment Correlate With Health-Related Quality of Life in AP-4-Associated Hereditary Spastic ParaplegiaCatherine Jordan, Gregory Geisel, Julian E Alecu, et al.
Human Molecular Genetics|August 4, 2022
De novo variants cause complex symptoms in HSP-ATL1 (SPG3A) and uncover genotype-phenotype correlationsJulian E Alecu, Afshin Saffari, Catherine Jordan, et al.
Annals of Clinical and Translational Neurology|December 31, 2024
Expanding molecular and clinical spectrum of CPT1C-associated hereditary spastic paraplegia (SPG73)-a case seriesAlexandra K Brooks, Vicente Quiroz, Luca Schierbaum, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 28, 2024
Quantitative natural history modeling of HPDL-related disease based on cross-sectional data reveals genotype-phenotype correlationsJulian E Alecu, Amy Tam, Silja Richter, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|August 3, 2026
Epilepsy-Dyskinesia Syndromes: The Venn Diagram of Genetic Epilepsy and Movement DisordersKaterina Bernardi, Julian E Alecu, Christelle Moufawad El Achkar, et al.
Stem Cell Research|June 5, 2021
Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4M1-associated hereditary spastic paraplegia (SPG50)Kathrin Eberhardt, Hellen Jumo, Angelica D'Amore, et al.
Biorxiv : the Preprint Server for Biology|March 3, 2025
Arrayed CRISPR/Cas9 Loss-Of-Function Screen in a Neuronal Model of Adaptor Protein Complex 4 Deficiency Identifies Modulators of ATG9A TraffickingMarvin Ziegler, Cedric Böger, Julian E Alecu, et al.
Experimental Neurology|September 19, 2020
Unique signatures of stress-induced senescent human astrocytesKatrin Simmnacher, Florian Krach, Yanni Schneider, et al.
JCI Insight|May 19, 2026
CRISPR/Cas9 loss-of-function screen in a neuronal model of AP-4 deficiency identifies ATG9A trafficking modulatorsMarvin Ziegler, Cedric Günter, Julian E Alecu, et al.
Autophagy|November 24, 2021
Quantitative retrospective natural history modeling of WDR45-related developmental and epileptic encephalopathy - a systematic cross-sectional analysis of 160 published casesAfshin Saffari, Julian Schröter, Sven F Garbade, et al.
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