Research Publications

Zheng, Y., Nützl, M., Schackel, T., Chen, J., Weidner, N., Müller, R., & Puttagunta, R. (2024). Biomaterial scaffold stiffness influences the foreign body reaction, tissue stiffness, angiogenesis and neuroregeneration in spinal cord injury. Bioactive materials, 46, 134–149. https://doi.org/10.1016/j.bioactmat.2024.12.006

Scharre, S., Mengler, K., Schnabel, E., Kuseyri Hübschmann, O., Tuncel, A. T., Hoffmann, G. F., Garbade, S. F., Mütze, U., & Kölker, S. (2025). Impact of early diagnosis, disease variant, and quality of care on the neurocognitive outcome in maple syrup urine disease: A meta-analysis. Genetics in medicine : official journal of the American College of Medical Genetics, 27(1), 101303. https://doi.org/10.1016/j.gim.2024.101303

Stingl, M., Draguhn, A., & Both, M. (2025). A dendrite is a dendrite is a dendrite? Dendritic signal integration beyond the "antenna" model. Pflugers Archiv : European journal of physiology, 477(1), 9–16. https://doi.org/10.1007/s00424-024-03004-0

Pollali, E., & Draguhn, A. (2024). Differential suppression of hippocampal network oscillations by neuropeptide Y. Neuropharmacology, 110281. Advance online publication. https://doi.org/10.1016/j.neuropharm.2024.110281

Kooistra, S. M., & Schirmer, L. (2024). Multiple Sclerosis: Glial Cell Diversity in Time and Space. Glia, 10.1002/glia.24655. Advance online publication. https://doi.org/10.1002/glia.24655

Vitacolonna, M., Bruch, R., Schneider, R., Jabs, J., Hafner, M., Reischl, M., & Rudolf, R. (2024). A spheroid whole mount drug testing pipeline with machine-learning based image analysis identifies cell-type specific differences in drug efficacy on a single-cell level. BMC cancer, 24(1), 1542. https://doi.org/10.1186/s12885-024-13329-9

Davis, S., Sommernes, J. R., Hambura, S., Riedel, L., Gil, A., Ikmi, A., Ströhl, F., & Prevedel, R. (2024). Mesoscopic axially swept oblique plane microscope for the imaging of freely moving organisms with near-isotropic resolution. Biomedical optics express, 15(12), 6715–6724. https://doi.org/10.1364/BOE.537262

 Hill, A. D., Okonechnikov, K., Herr, M. K., Thomas, C., Thongjuea, S., Hasselblatt, M., & Patrizi, A. (2024). Single-nucleus RNA-seq dissection of choroid plexus tumor cell heterogeneity. The EMBO journal, 43(24), 6766–6791. https://doi.org/10.1038/s44318-024-00283-2

Friske, M. M., Torrico, E. C., Haas, M. J. W., Borruto, A. M., Giannone, F., Hade, A. C., Yu, Y., Gao, L., Sutherland, G. T., Hitzemann, R., Philips, M. A., Fei, S. S., Sommer, W. H., Mayfield, R. D., & Spanagel, R. (2025). A systematic review and meta-analysis on the transcriptomic signatures in alcohol use disorder. Molecular psychiatry, 30(1), 310–326. https://doi.org/10.1038/s41380-024-02719-x

Zenk, M., Zimmerer, D., Isensee, F., Traub, J., Norajitra, T., Jäger, P. F., & Maier-Hein, K. (2024). Comparative benchmarking of failure detection methods in medical image segmentation: Unveiling the role of confidence aggregation. Medical image analysis, 101, 103392. Advance online publication. https://doi.org/10.1016/j.media.2024.103392

Schubert, T., & Schaaf, C. P. (2025). MAGEL2 (patho-)physiology and Schaaf-Yang syndrome. Developmental medicine and child neurology, 67(1), 35–48. https://doi.org/10.1111/dmcn.16018

Karimian-Jazi, K., Enbergs, N., Golubtsov, E., Schregel, K., Ungermann, J., Fels-Palesandro, H., Schwarz, D., Sturm, V., Kernbach, J. M., Batra, D., Ippen, F. M., Pflüger, I., von Knebel Doeberitz, N., Heiland, S., Bunse, L., Platten, M., Winkler, F., Wick, W., Paech, D., Bendszus, M., Breckwoldt, M. O. (2024). Differentiating Glioma Recurrence and Pseudoprogression by APTw CEST MRI. Investigative radiology, 10.1097/RLI.0000000000001145. Advance online publication. https://doi.org/10.1097/RLI.0000000000001145

Genzel, L., Froudarakis, E., & Rapti, G. (2024). Openness and transparency in animal research: Why and how. The European journal of neuroscience, 60(11), 6866–6873. https://doi.org/10.1111/ejn.16597

Lerma-Martin, C., Badia-I-Mompel, P., Ramirez Flores, R. O., Sekol, P., Schäfer, P. S. L., Riedl, C. J., Hofmann, A., Thäwel, T., Wünnemann, F., Ibarra-Arellano, M. A., Trobisch, T., Eisele, P., Schapiro, D., Haeussler, M., Hametner, S., Saez-Rodriguez, J., & Schirmer, L. (2024). Cell type mapping reveals tissue niches and interactions in subcortical multiple sclerosis lesions. Nature neuroscience, 27(12), 2354–2365. https://doi.org/10.1038/s41593-024-01796-z

Singhvi, A., Shaham, S., & Rapti, G. (2024). Glia Development and Function in the Nematode Caenorhabditis elegans. Cold Spring Harbor perspectives in biology, 16(12), a041346. https://doi.org/10.1101/cshperspect.a041346

Boffi, J. C., Bathellier, B., Asari, H., & Prevedel, R. (2024). Noisy neuronal populations effectively encode sound localization in the dorsal inferior colliculus of awake mice. eLife, 13, RP97598. https://doi.org/10.7554/eLife.97598

Bendszus M. (2024). Endovascular Treatment of Large Core Infarcts: no Limits?. Clinical neuroradiology, 34(4), 747–748. https://doi.org/10.1007/s00062-024-01472-6

Genzel, L., Froudarakis, E., & Rapti, G. (2024). Openness and transparency in animal research: Why and how. The European journal of neuroscience, 10.1111/ejn.16597. Advance online publication. https://doi.org/10.1111/ejn.16597

Lerma-Martin, C., Badia-I-Mompel, P., Ramirez Flores, R. O., Sekol, P., Schäfer, P. S. L., Riedl, C. J., Hofmann, A., Thäwel, T., Wünnemann, F., Ibarra-Arellano, M. A., Trobisch, T., Eisele, P., Schapiro, D., Haeussler, M., Hametner, S., Saez-Rodriguez, J., & Schirmer, L. (2024). Cell type mapping reveals tissue niches and interactions in subcortical multiple sclerosis lesions. Nature neuroscience, 10.1038/s41593-024-01796-z. Advance online publication. https://doi.org/10.1038/s41593-024-01796-z

Spanagel R. (2024). How to survive enormous amounts of alcohol. Proceedings of the National Academy of Sciences of the United States of America, 121(46), e2420068121. https://doi.org/10.1073/pnas.2420068121

Thomalla, G., Bonekamp, S., Fiehler, J., & Bendszus, M. (2024). Endovascular thrombectomy for acute ischaemic stroke: the TENSION trial - Authors' reply. Lancet (London, England), 404(10464), 1729–1730. https://doi.org/10.1016/S0140-6736(24)01166-8

Wolf, D., Oettl, L. L., Winkelmeier, L., Linster, C., & Kelsch, W. (2024). Anterior Olfactory Cortices Differentially Transform Bottom-Up Odor Signals to Produce Inverse Top-Down Outputs. The Journal of neuroscience : the official journal of the Society for Neuroscience, 44(44), e0231242024. https://doi.org/10.1523/JNEUROSCI.0231-24.2024

Schmelz M. (2024). Peripheral or central origin of chronic pain? Mu!. Pain, 10.1097/j.pain.0000000000003444. Advance online publication. https://doi.org/10.1097/j.pain.0000000000003444

Scharre, S., Mengler, K., Schnabel, E., Hübschmann, O. K., Tuncel, A. T., Hoffmann Gf, G. F., Garbade, S. F., Mütze, U., & Kölker, S. (2024). Impact of early diagnosis, disease variant, and quality of care on the neurocognitive outcome in maple syrup urine disease: a meta-analysis. Genetics in medicine : official journal of the American College of Medical Genetics, 101303. Advance online publication. https://doi.org/10.1016/j.gim.2024.101303

Tamimi, A., Caldarola, M., Hambura, S., Boffi, J. C., Noordzij, N., Los, J. W. N., Guardiani, A., Kooiman, H., Wang, L., Kieser, C., Braun, F., Castaneda, M. A. U., Fognini, A., & Prevedel, R. (2024). Deep Mouse Brain Two-Photon Near-Infrared Fluorescence Imaging Using a Superconducting Nanowire Single-Photon Detector Array. ACS photonics, 11(10), 3960–3971. https://doi.org/10.1021/acsphotonics.4c00111

Treutlein, J., Einenkel, K. E., Krämer, B., Awasthi, S., & Gruber, O. (2024). DNAJC13 influences responses of the extended reward system to conditioned stimuli: a genome-wide association study. European archives of psychiatry and clinical neuroscience, 10.1007/s00406-024-01905-w. Advance online publication. https://doi.org/10.1007/s00406-024-01905-w

P Graf, A., Hansson, A. C., & Spanagel, R. (2024). Isolated during adolescence: long-term impact on social behavior, pain sensitivity, and the oxytocin system in male and female rats. Biology of sex differences, 15(1), 78. https://doi.org/10.1186/s13293-024-00655-7

Herdt, R., Kinzel, L., Maaß, J. G., Walther, M., Fröhlich, H., Schubert, T., Maass, P., & Schaaf, C. P. (2024). Enhancing the analysis of murine neonatal ultrasonic vocalizations: Development, evaluation, and application of different mathematical models. The Journal of the Acoustical Society of America, 156(4), 2448–2466. https://doi.org/10.1121/10.0030473

Rashidi, G., Bounias, D., Bujotzek, M., Mora, A. M., Neher, P., & Maier-Hein, K. H. (2024). The potential of federated learning for self-configuring medical object detection in heterogeneous data distributions. Scientific reports, 14(1), 23844. https://doi.org/10.1038/s41598-024-74577-0

Treutlein, J., Löhlein, S., Einenkel, K. E., Picotin, R., Diekhof, E. K., & Gruber, O. (2024). Association of Unc-51-like Kinase 4 (ULK4) with the reactivity of the extended reward system in response to conditioned stimuli. The world journal of biological psychiatry : the official journal of the World Federation of Societies of Biological Psychiatry, 25(8), 443–450. https://doi.org/10.1080/15622975.2024.2393381

Schnabel-Besson, E., Mütze, U., Dikow, N., Hörster, F., Morath, M. A., Alex, K., Brennenstuhl, H., Settegast, S., Okun, J. G., Schaaf, C. P., Winkler, E. C., & Kölker, S. (2024). Wilson and Jungner Revisited: Are Screening Criteria Fit for the 21st Century?. International journal of neonatal screening, 10(3), 62. https://doi.org/10.3390/ijns10030062

Brito, D. V. C., Kupke, J., Sokolov, R., Cambridge, S., Both, M., Bengtson, C. P., Rozov, A., & Oliveira, A. M. M. (2024). Biphasic Npas4 expression promotes inhibitory plasticity and suppression of fear memory consolidation in mice. Molecular psychiatry, 29(7), 1929–1940. https://doi.org/10.1038/s41380-024-02454-3

Lotsch, C., Warta, R., & Herold-Mende, C. (2024). The Molecular and Immunological Landscape of Meningiomas. International journal of molecular sciences, 25(17), 9631. https://doi.org/10.3390/ijms25179631

Wang, Y. M., Yan, J., Williams, S. K., Fairless, R., & Bading, H. (2024). TwinF interface inhibitor FP802 prevents retinal ganglion cell loss in a mouse model of amyotrophic lateral sclerosis. Acta neuropathologica communications, 12(1), 149. https://doi.org/10.1186/s40478-024-01858-0

Wolf, D., Oettl, L. L., Winkelmeier, L., Linster, C., & Kelsch, W. (2024). Anterior olfactory cortices differentially transform bottom-up odor signals to produce inverse top-down outputs. The Journal of neuroscience : the official journal of the Society for Neuroscience, e0231242024. Advance online publication. https://doi.org/10.1523/JNEUROSCI.0231-24.2024

Zidda, F., Lyu, Y., Nees, F., Radev, S. T., Sitges, C., Montoya, P., Flor, H., & Andoh, J. (2024). Neural dynamics of pain modulation by emotional valence. Cerebral cortex (New York, N.Y. : 1991), 34(9), bhae358. https://doi.org/10.1093/cercor/bhae358

Friske, M. M., Torrico, E. C., Haas, M. J. W., Borruto, A. M., Giannone, F., Hade, A. C., Yu, Y., Gao, L., Sutherland, G. T., Hitzemann, R., Philips, M. A., Fei, S. S., Sommer, W. H., Mayfield, R. D., & Spanagel, R. (2024). A systematic review and meta-analysis on the transcriptomic signatures in alcohol use disorder. Molecular psychiatry, 10.1038/s41380-024-02719-x. Advance online publication. https://doi.org/10.1038/s41380-024-02719-x

Hoa Ho, K., Trapp, M., Guida, C., Ivanova, E. L., De Jaime-Soguero, A., Jabali, A., Thomas, C., Salasova, A., Bernatík, O., Salio, C., Horschitz, S., Hasselblatt, M., Sassoe-Pognetto, M., Čajánek, L., Ishikawa, H., Schroten, H., Schwerk, C., Acebrón, S. P., Angel, P., Koch, P., Patrizi, A. (2024). Activation of Wnt/β-catenin signaling is critical for the tumorigenesis of choroid plexus. Neuro-oncology, noae176. Advance online publication. https://doi.org/10.1093/neuonc/noae176

Treutlein, J., Löhlein, S., Einenkel, K. E., Picotin, R., Diekhof, E. K., & Gruber, O. (2024). Association of Unc-51-like Kinase 4 (ULK4) with the reactivity of the extended reward system in response to conditioned stimuli. The world journal of biological psychiatry : the official journal of the World Federation of Societies of Biological Psychiatry, 1–8. Advance online publication. https://doi.org/10.1080/15622975.2024.2393381

Schmalenberger, K. M., Eisenlohr-Moul, T. A., Jarczok, M. N., Schneider, E., Barone, J. C., Thayer, J. F., & Ditzen, B. (2024). Associations of luteal phase changes in vagally mediated heart rate variability with premenstrual emotional changes. BMC women's health, 24(1), 448. https://doi.org/10.1186/s12905-024-03273-y

Meinhardt, M. W., Gerlach, B., & Spanagel, R. (2024). Good Practice Guideline for Preclinical Alcohol Research: The STRINGENCY Framework. Current topics in behavioral neurosciences, 10.1007/7854_2024_484. Advance online publication. https://doi.org/10.1007/7854_2024_484

D Almeida, S., Norajitra, T., Lüth, C. T., Wald, T., Weru, V., Nolden, M., Jäger, P. F., von Stackelberg, O., Heußel, C. P., Weinheimer, O., Biederer, J., Kauczor, H. U., & Maier-Hein, K. (2024). How do deep-learning models generalize across populations? Cross-ethnicity generalization of COPD detection. Insights into imaging, 15(1), 198. https://doi.org/10.1186/s13244-024-01781-x

Bianchini, L., Sieber, L., Hammad, R., Schäfer, R., & Kutscher, L. M. (2024). Generation of two isogenic patient-derived human-induced pluripotent stem cell clones with 6q27 deletion. Stem cell research, 80, 103524. Advance online publication. https://doi.org/10.1016/j.scr.2024.103524

Kaulen, L. D., Hielscher, T., Doubrovinskaia, S., Hoffmann, D. C., Kessler, T., Traub, B. L., Baehring, J. M., & Wick, W. (2024). Clinical Presentation, Management, and Outcome in Neurolymphomatosis: A Systematic Review. Neurology, 103(4), e209698. https://doi.org/10.1212/WNL.0000000000209698

Ludwig, N., Cucinelli, S., Hametner, S., Muckenthaler, M. U., & Schirmer, L. (2024). Iron scavenging and myeloid cell polarization. Trends in immunology, 45(8), 625–638. https://doi.org/10.1016/j.it.2024.06.006

Thomalla, G., Fiehler, J., Subtil, F., Bonekamp, S., Aamodt, A. H., Fuentes, B., Gizewski, E. R., Hill, M. D., Krajina, A., Pierot, L., Simonsen, C. Z., Zeleňák, K., Blauenfeldt, R. A., Cheng, B., Denis, A., Deutschmann, H., Dorn, F., Flottmann, F., Gellißen, S., Gerber, J. C., … Wick, W., Bendszus, M., TENSION Investigators (2024). Endovascular thrombectomy for acute ischaemic stroke with established large infarct (TENSION): 12-month outcomes of a multicentre, open-label, randomised trial. The Lancet. Neurology, S1474-4422(24)00278-3. Advance online publication. https://doi.org/10.1016/S1474-4422(24)00278-3

Arnskötter, F., da Silva, P. B. G., Schouw, M. E., Lukasch, C., Bianchini, L., Sieber, L., Garcia-Lopez, J., Ahmad, S. T., Li, Y., Lin, H., Joshi, P., Spänig, L., Radoš, M., Roiuk, M., Sepp, M., Zuckermann, M., Northcott, P. A., Patrizi, A., & Kutscher, L. M. (2024). Loss of Elp1 in cerebellar granule cell progenitors models ataxia phenotype of Familial Dysautonomia. Neurobiology of disease, 199, 106600. https://doi.org/10.1016/j.nbd.2024.106600

Wolf, D., Hartig, R., Zhuo, Y., Scheller, M. F., Articus, M., Moor, M., Grinevich, V., Linster, C., Russo, E., Weber-Fahr, W., Reinwald, J. R., & Kelsch, W. (2024). Oxytocin induces the formation of distinctive cortical representations and cognitions biased toward familiar mice. Nature communications, 15(1), 6274. https://doi.org/10.1038/s41467-024-50113-6

Mütze, U., Gleich, F., Haas, D., Urschitz, M. S., Röschinger, W., Janzen, N., Hoffmann, G. F., Garbade, S. F., Syrbe, S., & Kölker, S. (2024). Vitamin B12 Deficiency Newborn Screening. Pediatrics, 154(2), e2023064809. https://doi.org/10.1542/peds.2023-064809

Ständer, S., & Schmelz, M. (2024). Skin Innervation. The Journal of investigative dermatology, 144(8), 1716–1723. https://doi.org/10.1016/j.jid.2023.10.047

Zhang, L., Zetter, M. A., Hernández, V. S., Hernández-Pérez, O. R., Jáuregui-Huerta, F., Krabichler, Q., & Grinevich, V. (2024). Morphological Signatures of Neurogenesis and Neuronal Migration in Hypothalamic Vasopressinergic Magnocellular Nuclei of the Adult Rat. International journal of molecular sciences, 25(13), 6988. https://doi.org/10.3390/ijms25136988

Utashiro, N., MacLaren, D. A. A., Liu, Y. C., Yaqubi, K., Wojak, B., & Monyer, H. (2024). Long-range inhibition from prelimbic to cingulate areas of the medial prefrontal cortex enhances network activity and response execution. Nature communications, 15(1), 5772. https://doi.org/10.1038/s41467-024-50055-z

Heesen, S. H., & Köhr, G. (2024). GABAergic interneuron diversity and organization are crucial for the generation of human-specific functional neural networks in cerebral organoids. Frontiers in cellular neuroscience, 18, 1389335. https://doi.org/10.3389/fncel.2024.1389335

Almeida, S. D., Norajitra, T., Lüth, C. T., Wald, T., Weru, V., Nolden, M., Jäger, P. F., von Stackelberg, O., Heußel, C. P., Weinheimer, O., Biederer, J., Kauczor, H. U., & Maier-Hein, K. (2024). Prediction of disease severity in COPD: a deep learning approach for anomaly-based quantitative assessment of chest CT. European radiology, 34(7), 4379–4392. https://doi.org/10.1007/s00330-023-10540-3

André, T., van Berkel, A. A., Singh, G., Abualrous, E. T., Diwan, G. D., Schmenger, T., Braun, L., Malsam, J., Toonen, R. F., Freund, C., Russell, R. B., Verhage, M., & Söllner, T. H. (2024). Reduced Protein Stability of 11 Pathogenic Missense STXBP1/MUNC18-1 Variants and Improved Disease Prediction. Biological psychiatry, 96(2), 125–136. https://doi.org/10.1016/j.biopsych.2024.03.007

Chausse, B., Malorny, N., Lewen, A., Poschet, G., Berndt, N., & Kann, O. (2024). Metabolic flexibility ensures proper neuronal network function in moderate neuroinflammation. Scientific reports, 14(1), 14405. https://doi.org/10.1038/s41598-024-64872-1

Jüllig, A. K., Hebib, S., Metzker, H., Gruber, E., & Gruber, O. (2024). Task-induced deactivation dysfunction during reward processing is associated with low self-esteem in a possible subtype of major depression. Brain and behavior, 14(6), e3545. https://doi.org/10.1002/brb3.3545

Afting, C., Mainik, P., Vazquez-Martel, C., Abele, T., Kaul, V., Kale, G., Göpfrich, K., Lemke, S., Blasco, E., & Wittbrodt, J. (2024). Minimal-Invasive 3D Laser Printing of Microimplants in Organismo. Advanced science (Weinheim, Baden-Wurttemberg, Germany), e2401110. Advance online publication. https://doi.org/10.1002/advs.202401110

Wischnewski, S., Thäwel, T., Ikenaga, C., Kocharyan, A., Lerma-Martin, C., Zulji, A., Rausch, H. W., Brenner, D., Thomas, L., Kutza, M., Wick, B., Trobisch, T., Preusse, C., Haeussler, M., Leipe, J., Ludolph, A., Rosenbohm, A., Hoke, A., Platten, M., Weishaupt, J. H., … Schirmer, L. (2024). Cell type mapping of inflammatory muscle diseases highlights selective myofiber vulnerability in inclusion body myositis. Nature aging, 10.1038/s43587-024-00645-9. Advance online publication. https://doi.org/10.1038/s43587-024-00645-9

Pellegrini, L., Silva-Vargas, V., & Patrizi, A. (2024). Breakthroughs in choroid plexus and CSF biology from the first European Choroid plexus Scientific Forum (ECSF). Fluids and barriers of the CNS, 21(1), 43. https://doi.org/10.1186/s12987-024-00546-4

Kann, O. (2024). Lactate as a supplemental fuel for synaptic transmission and neuronal network oscillations: Potentials and limitations. Journal of neurochemistry, 168(5), 608–631. https://doi.org/10.1111/jnc.15867

Sliwinski, C., Heutehaus, L., Taberner, F. J., Weiss, L., Kampanis, V., Tolou-Dabbaghian, B., Cheng, X., Motsch, M., Heppenstall, P. A., Kuner, R., Franz, S., Lechner, S. G., Weidner, N., & Puttagunta, R. (2024). Contribution of mechanoreceptors to spinal cord injury-induced mechanical allodynia. Pain, 165(6), 1336–1347. https://doi.org/10.1097/j.pain.0000000000003139

Schramm, E., Elsaesser, M., Jenkner, C., Hautzinger, M., & Herpertz, S. C. (2024). Algorithm-based modular psychotherapy vs. cognitive-behavioral therapy for patients with depression, psychiatric comorbidities and early trauma: a proof-of-concept randomized controlled trial. World psychiatry : official journal of the World Psychiatric Association (WPA), 23(2), 257–266. https://doi.org/10.1002/wps.21204

Baur, K., Şan, Ş., Hölzl-Wenig, G., Mandl, C., Hellwig, A., & Ciccolini, F. (2024). GDF15 controls primary cilia morphology and function thereby affecting progenitor proliferation. Life science alliance, 7(7), e202302384. https://doi.org/10.26508/lsa.202302384

van Eickels, D., Schick, M., Germeyer, A., Rösner, S., Strowitzki, T., Wischmann, T., & Ditzen, B. (2024). Predictors of partnership and sexual satisfaction and dyadic effects in couples affected by endometriosis and infertility. Archives of gynecology and obstetrics, 310(5), 2647–2655. https://doi.org/10.1007/s00404-024-07516-z

Flechsenhar, A., Seitz, K. I., Bertsch, K., & Herpertz, S. C. (2024). The association between psychopathology, childhood trauma, and emotion processing. Psychological trauma : theory, research, practice and policy, 16(Suppl 1), S190–S203. https://doi.org/10.1037/tra0001261

Wimmer, M. C., Brennenstuhl, H., Hirsch, S., Dötsch, L., Unser, S., Caro, P., & Schaaf, C. P. (2024). Hao-Fountain syndrome: 32 novel patients reveal new insights into the clinical spectrum. Clinical genetics, 105(5), 499–509. https://doi.org/10.1111/cge.14480

Singhvi, A., Shaham, S., & Rapti, G. (2024). Glia Development and Function in the Nematode Caenorhabditis elegans. Cold Spring Harbor perspectives in biology, a041346. Advance online publication. https://doi.org/10.1101/cshperspect.a041346

Brenner, D., Sieverding, K., Srinidhi, J., Zellner, S., Secker, C., Yilmaz, R., Dyckow, J., Amr, S., Ponomarenko, A., Tunaboylu, E., Douahem, Y., Schlag, J. S., Rodríguez Martínez, L., Kislinger, G., Niemann, C., Nalbach, K., Ruf, W. P., Uhl, J., Hollenbeck, J., Schirmer, L., … Weishaupt, J. H. (2024). A TBK1 variant causes autophagolysosomal and motoneuron pathology without neuroinflammation in mice. The Journal of experimental medicine, 221(5), e20221190. https://doi.org/10.1084/jem.20221190

André, T., van Berkel, A.A., Singh, G., Abualrous, E.T., Diwan, G.D., Schmenger, T., Braun, L., Malsam, J., Toonen, R.F., Freund, C., Russell, R.B., Verhage, M., and Söllner, T.H. (2024). Reduced protein stability of 11 pathogenic missense STXBP1/MUNC18-1 variants and improved disease prediction. Biol Psychiatry. https://doi.org/10.1016/j.biopsych.2024.03.007.

Ständer, S., and Schmelz, M. (2024). Skin Innervation. J Invest Dermatol. https://doi.org/10.1016/j.jid.2023.10.047.

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