Neurologie mit Schwerpunkt neurodegenerative Erkrankungen

Elter, T. L., D. Sturm, M. M. Santana, T. Schaprian, M. Raposo, A. R. V. Melo, M. Lima, B. Koyak, D. Oender, M. Grobe-Einsler et al. "Regional Distribution of Polymorphisms Associated to the Disease-Causing Gene of Spinocerebellar Ataxia Type 3." Journal of Neurology, vol. 272, no. 1, 2025, p. 12, doi:10.1007/s00415-024-12829-9.

Maass, F., S. Canaslan, C. van Riesen, P. Hermann, M. Schmitz, C. Schulte, K. Brockmann, M. Synofzik, M. Bähr and I. Zerr. "Myelin Basic Protein and Trem2 Quantification in the Csf of Patients with Multiple System Atrophy and Other Parkinsonian Conditions." Journal of Neurology, vol. 272, no. 1, 2025, p. 8, doi:10.1007/s00415-024-12747-w.

Acharya, S., A. I. Lumley, Y. Devaux and P. D. Consortium Ncer. "Cardiovascular History and Risk of Idiopathic Parkinson's Disease: A Cross-Sectional Observational Study." Bmc Neuroscience, vol. 25, no. 1, 2024, p. 10, doi:10.1186/s12868-024-00875-y.

Adang, L. A., J. L. Bonkowsky, J. J. Boelens, E. Mallack, R. Ahrens-Nicklas, J. A. Bernat, A. Bley, B. Burton, A. Darling, F. Eichler et al. "Consensus Guidelines for the Monitoring and Management of Metachromatic Leukodystrophy in the United States." Cytotherapy, vol. 26, no. 7, 2024, pp. 739-748, doi:10.1016/j.jcyt.2024.03.487.

Atasu, B., J. Simón-Sánchez, H. Hanagasi, B. Bilgic, A. K. Hauser, G. Guven, P. Heutink, T. Gasser and E. Lohmann. "Dissecting Genetic Architecture of Rare Dystonia: Genetic, Molecular and Clinical Insights." Journal of Medical Genetics, vol. 61, no. 5, 2024, pp. 443-451, doi:10.1136/jmg-2022-109099.

Banks, E., V. Francis, S. J. Lin, F. Kharfallah, V. Fonov, M. Lévesque, C. Han, G. Kulasekaran, M. Tuznik, A. Bayati et al. "Loss of Symmetric Cell Division of Apical Neural Progenitors Drives <I>Dennd5a</I>-Related Developmental and Epileptic Encephalopathy." Nature communications, vol. 15, no. 1, 2024, p. 22, doi:10.1038/s41467-024-51310-z.

Beichert, L., W. Ilg, C. Kessler, A. Traschütz, S. Reich, F. M. Santorelli, A. N. Basak, C. Gagnon, R. Schüle, M. Synofzik et al. "Digital Gait Outcomes for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (Arsacs): Discriminative, Convergent, and Ecological Validity in a Multicenter Study (Prospax)." Movement Disorders, vol. 39, no. 9, 2024, pp. 1544-1555, doi:10.1002/mds.29876.

Beichert, Lukas, Jens Seemann, Christoph Kessler, Andreas Traschutz, Doreen Muller, Katrin Dillmann-Jehn, Ivana Ricca, Sara Satolli, Nazli A. Basak, Giulia Coarelli et al. "Patient-Relevant Digital-Motor Outcomes for Clinical Trials in Hereditary Spastic Paraplegia Type 7: A Multicenter Prospax Study." Neurology, vol. 103, no. 12, 2024, p. e209887, doi:10.1212/wnl.0000000000209887.

Beijer, D., B. L. Fogel, S. Beltran, M. C. Danzi, A. H. Németh, S. Züchner, M. Synofzik, A. G. I. Ataxia NGS genomics and Grp platforms Working. "Standards of Ngs Data Sharing and Analysis in Ataxias: Recommendations by the Ngs Working Group of the Ataxia Global Initiative." Cerebellum, vol. 23, no. 2, 2024, pp. 391-400, doi:10.1007/s12311-023-01537-1.

Benussi, A., E. Premi, M. Grassi, A. Alberici, V. Cantoni, S. Gazzina, S. Archetti, R. Gasparotti, G. G. Fumagalli, A. Bouzigues et al. "Diagnostic Accuracy of Research Criteria for Prodromal Frontotemporal Dementia." Alzheimers Research & Therapy, vol. 16, no. 1, 2024, p. 12, doi:10.1186/s13195-024-01383-1.

Best, P. T., J. C. Van Swieten, L. C. Jiskoot, F. Moreno, R. Sánchez-Valle, R. L. Laforce, Jr., C. Graff, M. Masellis, C. Tartaglia, J. B. Rowe et al. "Association of Changes in Cerebral and Hypothalamic Structure with Sleep Dysfunction in Patients with Genetic Frontotemporal Dementia." Neurology, vol. 103, no. 11, 2024, p. 13, doi:10.1212/wnl.0000000000209829.

Bhatia, P., M. Bickle, A. A. Agrawal, B. Truss, A. Nikolaidi, K. Brockmann, L. Reinhardt, S. Vogel, E. M. Szegoe, A. Pal et al. "Axonal Lysosomal Assays for Characterizing the Effects of Lrrk2 G2019s." Biology-Basel, vol. 13, no. 1, 2024, p. 25, doi:10.3390/biology13010058.

Bode, M., E. Kalbe and I. Liepelt-Scarfone. "Cognition and Activity of Daily Living Function in People with Parkinson's Disease." Journal of Neural Transmission, vol. 131, no. 10, 2024, pp. 1159-1186, doi:10.1007/s00702-024-02796-w.

Borrego-Ecija, S., J. Juncà-Parella, M. Vandebergh, A. P. Millan, M. Balasa, A. Llado, A. Bouzigues, L. L. Russell, P. H. Foster, E. Ferry-Bolder et al. "Association of Initial Side of Brain Atrophy with Clinical Features and Disease Progression in Patients with <I>Grn</I> Frontotemporal Dementia." Neurology, vol. 103, no. 11, 2024, p. 14, doi:10.1212/wnl.0000000000209944.

Braunger, L. J., F. Knab and T. Gasser. "Using Extracellular Mirna Signatures to Identify Patients with Lrrk2-Related Parkinson's Disease." Journal of Parkinsons Disease, vol. 14, no. 5, 2024, pp. 977-991, doi:10.3233/jpd-230408.

Brockmann, K., S. Lerche, S. Baiardi, M. Rossi, I. Wurster, C. Quadalti, B. Roeben, A. Mammana, M. Zimmermann, A. Hauser et al. "Csf Α-Synuclein Seed Amplification Kinetic Profiles Are Associated with Cognitive Decline in Parkinson's Disease." Npj Parkinsons Disease, vol. 10, no. 1, 2024, p. 9, doi:10.1038/s41531-023-00627-5.

Buchholz, M., N. Weber, A. Rädke, J. Faber, T. Schmitz-Hübsch, H. Jacobi, F. Xie, T. Klockgether, B. Michalowsky, Eurosca Study Grp et al. "Health-Related Quality of Life in Patients with Spinocerebellar Ataxia: A Validation Study of the Eq-5d-3l." Cerebellum, vol. 23, no. 3, 2024, pp. 1020-1030, doi:10.1007/s12311-023-01597-3.

Cardoso, F., C. G. Goetz, T. A. Mestre, C. Sampaio, C. H. Adler, D. Berg, B. R. Bloem, D. J. Burn, M. S. Fitts, T. Gasser et al. "A Statement of the Mds on Biological Definition, Staging, and Classification of Parkinson's Disease." Movement Disorders, vol. 39, no. 2, 2024, pp. 259-266, doi:10.1002/mds.29683.

Cavarischia-Rega, C., K. Sharma, J. C. Fitzgerald and B. Macek. "Proteome Dynamics in Ipsc-Derived Human Dopaminergic Neurons." Molecular & Cellular Proteomics, vol. 23, no. 10, 2024, p. 19, doi:10.1016/j.mcpro.2024.100838.

Chatterjee, M., S. Özdemir, C. Fritz, W. Möbius, L. Kleineidam, E. Mandelkow, J. Biernat, C. Dogdu, O. Peters, N. C. Cosma et al. "Plasma Extracellular Vesicle Tau and Tdp-43 as Diagnostic Biomarkers in Ftd and Als." Nature Medicine, vol. 30, no. 6, 2024, pp. 1771-+, doi:10.1038/s41591-024-02937-4.

Comella, C. L., J. Jankovic, R. A. Hauser, A. T. Patel, M. D. Banach, E. Ehler, D. Vitarella, R. G. Rubio, T. M. Gross and Aspen Study Grp. "Efficacy and Safety of Daxibotulinumtoxina for Injection in Cervical Dystonia: Aspen-1 Phase 3 Randomized Controlled Trial." Neurology, vol. 102, no. 4, 2024, p. 12, doi:10.1212/wnl.0000000000208091.

Currò, R., N. Dominik, S. Facchini, E. Vegezzi, R. Sullivan, V. G. Deforie, G. Fernández-Eulate, A. Traschütz, S. Rossi, M. Garibaldi et al. "Role of the Repeat Expansion Size in Predicting Age of Onset and Severity in Rfc1 Disease." Brain, vol. 147, no. 5, 2024, pp. 1887-1898, doi:10.1093/brain/awad436.

Dam, T., G. Pagano, M. C. Brumm, C. Gochanour, K. L. Poston, D. Weintraub, L. M. Chahine, C. Coffey, C. M. Tanner, C. M. Kopil et al. "Neuronal Alpha-Synuclein Disease Integrated Staging System Performance in Ppmi, Pasadena, and Spark Baseline Cohorts." Npj Parkinsons Disease, vol. 10, no. 1, 2024, p. 12, doi:10.1038/s41531-024-00789-w.

Danzi, M. C., E. Powell, A. P. Rebelo, M. F. Dohrn, D. Beijer, S. Fazal, I. R. L. Xu, J. Medina, S. T. Chen, Y. A. de Jesus et al. "The Genesis Database and Tools: A Decade of Discovery in Mendelian Genomics." Experimental Neurology, vol. 382, 2024, p. 12, doi:10.1016/j.expneurol.2024.114978.

Dargvainiene, J., U. Jensen-Kondering, B. Bender, D. Berg, N. Brüggemann, C. Flüh, R. Markewitz, A. Neumann, B. Röben, C. Röcken et al. "Aβ38 and Aβ43 Do Not Differentiate between Alzheimer's Disease and Cerebral Amyloid Angiopathy." Annals of Clinical and Translational Neurology, vol. 11, no. 3, 2024, pp. 806-811, doi:10.1002/acn3.51987.

de Boni, L., A. Wallis, A. H. Watson, A. Ruiz-Riquelme, L. A. Leyland, T. Bourinaris, N. Hannaway, U. Wüllner, O. Peters, J. Priller et al. "Aggregation-Resistant Alpha-Synuclein Tetramers Are Reduced in the Blood of Parkinson's Patients." Embo Molecular Medicine, vol. 16, no. 7, 2024, pp. 1657-1674, doi:10.1038/s44321-024-00083-5.

de Lope, E. G., R. T. J. Loo, A. Rauschenberger, M. Ali, L. Pavelka, T. M. Marques, C. P. C. Gomes, R. Kruger, E. Glaab and Ncer-Pd Consortium. "Comprehensive Blood Metabolomics Profiling of Parkinson's Disease Reveals Coordinated Alterations in Xanthine Metabolism." Npj Parkinsons Disease, vol. 10, no. 1, 2024, p. 18, doi:10.1038/s41531-024-00671-9.

Dehestani, M., V. Kozareva, C. Blauwendraat, E. Fraenkel, T. Gasser and V. Bansal. "Transcriptomic Changes in Oligodendrocytes and Precursor Cells Associate with Clinical Outcomes of Parkinson's Disease." Molecular Brain, vol. 17, no. 1, 2024, p. 10, doi:10.1186/s13041-024-01128-z.

Demidov, German, Burcu Yaldiz, Jose Garcia-Pelaez, Elke de Boer, Nika Schuermans, Liedewei Van de Vondel, Ida Paramonov, Lennart F. Johansson, Francesco Musacchia, Elisa Benetti et al. "Comprehensive Reanalysis for Cnvs in Es Data from Unsolved Rare Disease Cases Results in New Diagnoses." NPJ genomic medicine, vol. 9, no. 1, 2024, p. 49, doi:10.1038/s41525-024-00436-6.

Dohrn, M. F., D. Beijer, M. A. Lone, E. Bayraktar, P. Oflazer, R. Orbach, S. Donkervoort, A. R. Foley, A. Rose, M. Lyons et al. "Recurrent <I>De-Novo Gain-of-Function</I> Mutation in <I>Sptlc2</I> Confirms Dysregulated Sphingolipid Production to Cause Juvenile Amyotrophic Lateral Sclerosis." Journal of Neurology Neurosurgery and Psychiatry, vol. 95, no. 3, 2024, pp. 201-205, doi:10.1136/jnnp-2023-332130.

Domenighetti, C., P. E. Sugier, A. Ashok Kumar Sreelatha, C. Schulte, S. Grover, B. Portugal, P. C. Lee, P. May, D. Bobbili, M. Radivojkov Blagojevic et al. "Association of Body Mass Index and Parkinson Disease a Bidirectional Mendelian Randomization Study." Neurology, vol. 103, no. 3, 2024, p. 17, doi:10.1212/wnl.0000000000209620.

Duindam, H. B., D. Mengel, M. Kox, J. C. Göpfert, R. P. C. Kessels, M. Synofzik, P. Pickkers and W. F. Abdo. "Systemic Inflammation Relates to Neuroaxonal Damage Associated with Long-Term Cognitive Dysfunction in Covid-19 Patients." Brain Behavior and Immunity, vol. 117, 2024, pp. 510-520, doi:10.1016/j.bbi.2024.02.002.

Ehnert, S., S. Hauser, H. Hengel, P. Höflinger, R. Schüle, T. Lindig, J. Baets, T. Deconinck, P. de Jonghe, T. Histing et al. "Vitamin D<Sub>3</Sub> Deficiency and Osteopenia in Spastic Paraplegia Type 5 Indicate Impaired Bone Homeostasis." Scientific Reports, vol. 14, no. 1, 2024, p. 9, <Go to ISI>://WOS:001196356400115.

Ellwanger, K., J. A. Brill, E. de Boer, S. Efthymiou, Y. Elgersma, M. Icmat, F. Lecoquierre, A. G. Lobato, M. Morleo, M. Ori et al. "Model Matchmaking Via the Solve-Rd Rare Disease Models & Mechanisms Network (Rdmm-Europe)." Lab Animal, vol. 53, no. 7, 2024, pp. 161-165, doi:10.1038/s41684-024-01395-2.

Faber, J., M. Berger, C. Wilke, J. Hubener-Schmid, T. Schaprian, M. M. Santana, M. Grobe-Einsler, D. Onder, B. Koyak, P. Giunti et al. "Stage-Dependent Biomarker Changes in Spinocerebellar Ataxia Type 3." Annals of Neurology, vol. 95, no. 2, 2024, pp. 400-406, doi:10.1002/ana.26824.

Fenoglio, C., M. Serpente, M. Arcaro, T. Carandini, L. Sacchi, M. Pintus, E. Rotondo, V. Borracci, L. Ghezzi, A. Bouzigues et al. "Inflammatory Plasma Profile in Genetic Symptomatic and Presymptomatic Frontotemporal Dementia - a Genfi Study." Brain Behavior and Immunity, vol. 122, 2024, pp. 231-240, doi:10.1016/j.bbi.2024.08.030.

Ferrea, E., F. Negahbani, I. Cebi, D. Weiss and A. Gharabaghi. "Machine Learning Explains Response Variability of Deep Brain Stimulation on Parkinson's Disease Quality of Life." Npj Digital Medicine, vol. 7, no. 1, 2024, p. 11, doi:10.1038/s41746-024-01253-y.

Gasser, Thomas. "The Global Dimension of Parkinson's Disease Genetics." The Lancet. Neurology, vol. 23, no. 12, 2024, pp. 1178-1179, doi:10.1016/s1474-4422(24)00435-6.

Gerschel, T., S. Prokop, L. Schulze, T. Feige, A. Zschieschang, M. T. Barbe, R. Bitterlich, J. Caffier, I. Csoti, C. Eggers et al. "How the Implementation of a School for People with Parkinson's Disease Can Succeed-Results of a Consensus Study and a Formative Evaluation." Nervenarzt, vol. 95, no. 6, 2024, pp. 539-543, doi:10.1007/s00115-024-01639-z.

Gharabaghi, A., I. Cebi, D. Leavitt, M. Scherer, P. Bookjans, B. Brunnett, L. Milosevic and D. Weiss. "Randomized Crossover Trial on Motor and Non-Motor Outcome of Directional Deep Brain Stimulation in Parkinson's Disease." Npj Parkinsons Disease, vol. 10, no. 1, 2024, p. 12, doi:10.1038/s41531-024-00812-0.

Graessner, H., C. Reinhard, T. Bäumer, A. Baumgärtner, K. Brockmann, N. Brüggemann, E. Bültmann, J. Erdmann, K. Heise, G. Höglinger et al. "Recommendations for Optimal Interdisciplinary Management and Healthcare Settings for Patients with Rare Neurological Diseases." Orphanet Journal of Rare Diseases, vol. 19, no. 1, 2024, p. 9, doi:10.1186/s13023-024-03023-1.

Greten, S., F. Wegner, I. Jensen, L. Krey, S. Rogozinski, M. Fehring, J. Heine, J. Doll-Lee, M. Poetter-Nerger, M. Zeitzschel et al. "The Comorbidity and Co-Medication Profile of Patients with Progressive Supranuclear Palsy." Journal of Neurology, vol. 271, no. 2, 2024, pp. 782-793, doi:10.1007/s00415-023-12006-4.

Grobe-Einsler, M., A. T. Amin, J. Faber, H. Völkel, M. Synofzik and T. Klockgether. "Scale for the Assessment and Rating of Ataxia (Sara): Development of a Training Tool and Certification Program." Cerebellum, vol. 23, no. 3, 2024, pp. 877-880, doi:10.1007/s12311-023-01543-3.

Güven, G., P. Köseoglu, E. Lohmann, B. Samanci, E. Sahin, B. Bilgiç, H. A. Hanagasi, H. Gürvit and N. Erginel-Ünaltuna. "Peripheral Expression of Il-6, Tnf-Α and Tgf-Β1 in Alzheimer's Disease Patients." Turkish Journal of Immunology, vol. 12, no. 1, 2024, pp. 28-34, doi:10.4274/tji.galenos.2024.76598.

Hahn, L., S. B. Eickhoff, K. Mueller, L. Schilbach, H. Barthel, K. Fassbender, K. Fliessbach, J. Kornhuber, J. Prudlo, M. Synofzik et al. "Resting-State Alterations in Behavioral Variant Frontotemporal Dementia Are Related to the Distribution of Monoamine and Gaba Neurotransmitter Systems." Elife, vol. 13, 2024, p. 18, doi:10.7554/eLife.86085.

Hallbeck, M., S. Ekmark-Lewén, P. J. Kahle, M. Ingelsson and J. F. Reyes. "Accumulation of Alpha-Synuclein Pathology in the Liver Exhibits Post-Translational Modifications Associated with Parkinson's Disease." Iscience, vol. 27, no. 12, 2024, p. 21, doi:10.1016/j.isci.2024.111448.

Hamdan, A., N. Hendrickx, A. C. Hooker, X. M. Chen, E. Comets, A. Traschuetz, R. Schuele, F. Mentre, M. Synofzik, M. O. Karlsson et al. "Longitudinal Analysis of Natural History Progression of Rare and Ultra-Rare Cerebellar Ataxias Using Item Response Theory." Clinical Pharmacology & Therapeutics, vol. 116, no. 6, 2024, pp. 1593-1605, doi:10.1002/cpt.3466.

Hamdan, A., A. C. Hooker, X. M. Chen, A. Traschütz, R. Schüle, M. Synofzik, M. O. Karlsson, Evidence-Rnd Consortium and Arca Study Grp. "Item Performance of the Scale for the Assessment and Rating of Ataxia in Rare and Ultra-Rare Genetic Ataxias." Cpt-Pharmacometrics & Systems Pharmacology, vol. 13, no. 8, 2024, pp. 1327-1340, doi:10.1002/psp4.13162.

Hayek, D., G. Ziegler, L. Kleineidam, F. Brosseron, A. Nemali, N. Vockert, K. A. Ravichandran, M. J. Betts, O. Peters, L. S. Schneider et al. "Different Inflammatory Signatures Based on Csf Biomarkers Relate to Preserved or Diminished Brain Structure and Cognition." Molecular Psychiatry, vol. 29, no. 4, 2024, pp. 992-1004, doi:10.1038/s41380-023-02387-3.

Heinzel, S., J. Jureczek, V. Kainulainen, A. I. Nieminen, U. Suenkel, A. K. von Thaler, C. Kaleta, G. W. Eschweiler, K. Brockmann, V. T. E. Aho et al. "Elevated Fecal Calprotectin Is Associated with Gut Microbial Dysbiosis, Altered Serum Markers and Clinical Outcomes in Older Individuals." Scientific Reports, vol. 14, no. 1, 2024, p. 13, doi:10.1038/s41598-024-63893-0.

Hermle, D., R. Schubert, P. Barallon, W. Ilg, R. Schüle, R. Reilmann, M. Synofzik and A. Traschütz. "Multifeature Quantitative Motor Assessment of Upper Limb Ataxia Including Drawing and Reaching." Annals of Clinical and Translational Neurology, vol. 11, no. 5, 2024, pp. 1097-1109, doi:10.1002/acn3.52024.

Höglinger, G., C. Trenkwalder and Comm German Parkinsons Guidelines. "Diagnosis and Treatment of Parkinson<Acute Accent>S Disease (Guideline of the German Society for Neurology)." Neurological Research and Practice, vol. 6, no. 1, 2024, p. 12, doi:10.1186/s42466-024-00325-4.

Höllerhage, M., J. Becktepe, J. Classen, G. Deuschl, G. Ebersbach, F. Hopfner, P. Lingor, M. Löhle, S. Maass, M. Pötter-Nerger et al. "Pharmacotherapy of Motor Symptoms in Early and Mid-Stage Parkinson's Disease: Guideline "Parkinson's Disease" of the German Society of Neurology." Journal of Neurology, vol. 271, no. 11, 2024, pp. 7071-7101, doi:10.1007/s00415-024-12632-6.

Hopfner, F., G. Höglinger, C. Trenkwalder and Grp German Parkinsons Guidelines. "Definition and Diagnosis of Parkinson's Disease: Guideline "Parkinson's Disease" of the German Society of Neurology." Journal of Neurology, vol. 271, no. 11, 2024, pp. 7102-7119, doi:10.1007/s00415-024-12687-5.

Hüper, L., P. Steinacker, M. Polyakova, K. Mueller, J. Godulla, S. Herzig, A. Danek, A. Engel, J. Diehl-Schmid, J. Classen et al. "Neurofilaments and Progranulin Are Related to Atrophy in Frontotemporal Lobar Degeneration - a Transdiagnostic Study Cross-Validating Atrophy and Fluid Biomarkers." Alzheimers & Dementia, vol. 20, no. 7, 2024, pp. 4461-4475, doi:10.1002/alz.13863.

Ibrahim, A. A., M. Ollenschläger, S. Klebe, R. Schüle, N. Jeschonneck, M. Kellner, E. Loris, T. Greinwalder, B. M. Eskofier, J. Winkler et al. "Mobile Digital Gait Analysis Captures Effects of Botulinum Toxin in Hereditary Spastic Paraplegia." European Journal of Neurology, vol. 31, no. 8, 2024, p. 10, doi:10.1111/ene.16367.

Indelicato, E., K. Reetz, S. Maier, W. Nachbauer, M. Amprosi, P. Giunti, C. Mariotti, A. Durr, Fjrd Garrido, T. Klopstock et al. "Predictors of Survival in Friedreich's Ataxia: A Prospective Cohort Study." Movement Disorders, vol. 39, no. 3, 2024, pp. 510-518, doi:10.1002/mds.29687.

Iruzubieta, P., Capf Alves, A. M. Al Shamsi, G. Elghazali, M. S. Zaki, L. Pinelli, D. Lopergolo, B. P. H. Cho, A. A. Jolly, A. Al Futaisi et al. "Clinical and Neuroradiological Spectrum of Biallelic Variants in <I>Notch3</I>." Ebiomedicine, vol. 107, 2024, p. 15, doi:10.1016/j.ebiom.2024.105297.

Johansson, L. F., S. Laurie, D. Spalding, S. Gibson, D. Ruvolo, C. Thomas, D. Piscia, F. de Andrade, G. Been, M. Bijlsma et al. "An Interconnected Data Infrastructure to Support Large-Scale Rare Disease Research." Gigascience, vol. 13, 2024, p. 14, doi:10.1093/gigascience/giae058.

Junker, J., L. M. Lange, E. J. Vollstedt, K. Roopnarain, M. L. M. Doquenia, A. A. Annuar, M. Avenali, S. Bardien, N. Bahr, M. Ellis et al. "Team Science Approaches to Unravel Monogenic Parkinson's Disease on a Global Scale." Movement Disorders, vol. 39, no. 10, 2024, pp. 1868-1873, doi:10.1002/mds.29925.

Kagermeier, T., S. Hauser, K. Sarieva, L. Laugwitz, S. Groeschel, W. G. Janzarik, Z. Yentür, K. Becker, L. Schöls, I. Krägeloh-Mann et al. "Human Organoid Model of Pontocerebellar Hypoplasia 2a Recapitulates Brain Region-Specific Size Differences." Disease Models & Mechanisms, vol. 17, no. 7, 2024, p. 15, doi:10.1242/dmm.050740.

Kalbe, E., A. K. Folkerts, K. Witt, C. Buhmann, I. Liepelt-Scarfone and Group German Parkinson's Guidelines. "German Society of Neurology Guidelines for the Diagnosis and Treatment of Cognitive Impairment and Affective Disorders in People with Parkinson's Disease: New Spotlights on Diagnostic Procedures and Non-Pharmacological Interventions." Journal of Neurology, vol. 271, no. 11, 2024, pp. 7330-7357, doi:10.1007/s00415-024-12503-0.

Kastner, L., U. Suenkel, A. K. von Thaler, G. W. Eschweiler, T. Dankowski, C. Mychajliw, K. Brockmann, S. Heinzel and A. Thiel. "Covid-19 and Social Distancing: Pandemic Has Altered Social Relationships and Contacts in Older Adults over 4 Years." Frontiers in Public Health, vol. 12, 2024, p. 10, doi:10.3389/fpubh.2024.1456829.

Katzdobler, S., G. Nübling, M. Klietz, U. M. Fietzek, C. Palleis, A. M. Bernhardt, F. Wegner, M. Huber, S. Rogozinski, L. S. Schneider et al. "Gfap and Nfl as Fluid Biomarkers for Clinical Disease Severity and Disease Progression in Multiple System Atrophy (Msa)." Journal of Neurology, 2024, p. 9, doi:10.1007/s00415-024-12647-z.

Kern, J., J. Böhringer, D. Timmann, R. Trollmann, C. Stendel, C. Kamm, M. Röbl, V. Santhanakumaran, S. Groeschel, S. Beck-Wödl et al. "Clinical, Imaging, Genetic, and Disease Course Characteristics in Patients with Gm2 Gangliosidosis." Neurology, vol. 102, no. 1, 2024, p. 12, doi:10.1212/wnl.0000000000207898.

Kim, J. J., D. Vitale, D. V. Otani, M. M. Lian, K. Heilbron, S. Aslibekyan, A. Auton, E. Babalola, R. K. Bell, J. Bielenberg et al. "Multi-Ancestry Genome-Wide Association Meta-Analysis of Parkinson's Disease." Nature Genetics, vol. 56, no. 1, 2024, p. 16, doi:10.1038/s41588-023-01584-8.

Kishore, A., M. Sturm, K. S. Pillai, C. Hakkaart, D. K. Puthanveedu, M. Urulangodi, S. Krishnan, A. A. K. Sreelatha, R. Rajan, P. K. Pal et al. "Resequencing the Complete <I>Snca</I> Locus in Indian Patients with Parkinson's Disease." Npj Parkinsons Disease, vol. 10, no. 1, 2024, p. 5, doi:10.1038/s41531-024-00676-4.

Klocke, P., M. A. Loeffler, H. Muessler, M. S. Breu, A. Gharabaghi and D. Weiss. "Supraspinal Contributions to Defective Antagonistic Inhibition and Freezing of Gait in Parkinson's Disease." Brain, vol. 147, no. 12, 2024, pp. 4056-4071, doi:10.1093/brain/awae223.

Klockgether, T., M. Synofzik and A. G. I. Working Grp COAs Registries. "Consensus Recommendations for Clinical Outcome Assessments and Registry Development in Ataxias: Ataxia Global Initiative (Agi) Working Group Expert Guidance." Cerebellum, vol. 23, no. 3, 2024, pp. 924-930, doi:10.1007/s12311-023-01547-z.

Kluge, A., E. Schaeffer, J. Bunk, M. Sommerauer, S. Roettgen, C. Schulte, B. Roeben, A. K. von Thaler, J. Welzel, R. Lucius et al. "Detecting Misfolded Α-Synuclein in Blood Years before the Diagnosis of Parkinson's Disease." Movement Disorders, vol. 39, no. 8, 2024, pp. 1289-1299, doi:10.1002/mds.29766.

Knab, F., G. Guaitoli, M. A. Jarboui, F. von Zweydorf, F. B. Isik, F. Klose, A. P. Rajkumar, T. Gasser and C. J. Gloeckner. "The Cellular and Extracellular Proteomic Signature of Human Dopaminergic Neurons Carrying the Lrrk2 G2019s Mutation." Frontiers in Neuroscience, vol. 18, 2024, p. 16, doi:10.3389/fnins.2024.1502246.

Kneer, K., S. Straub, J. Wittlinger, J. H. Stahl, N. Winter, D. Timmann, L. Schöls, M. Synofzik, F. Bender and A. Grimm. "Neuropathy in Arsacs Is Demyelinating but without Typical Nerve Enlargement in Nerve Ultrasound." Journal of Neurology, vol. 271, no. 4, 2024, pp. 2078-2085, doi:10.1007/s00415-023-12159-2.

Korneck, M., A. Leonhardt, L. Schöls and S. Hauser. "Generation of Homozygous and Heterozygous<I> Reep1</I> Knockout Induced Pluripotent Stem Cell Lines by Crispr/Cas9 Gene Editing." Stem Cell Research, vol. 77, 2024, p. 5, doi:10.1016/j.scr.2024.103378.

Laabs, B. H., K. Lohmann, E. J. Vollstedt, T. Reinberger, L. M. Nuxoll, G. Kilic-Berkmen, J. S. Perlmutter, S. Loens, C. Cruchaga, A. Franke et al. "Genetic Risk Factors in Isolated Dystonia Escape Genome-Wide Association Studies." Movement Disorders, vol. 39, no. 11, 2024, pp. 2110-2116, doi:10.1002/mds.29968.

Laugwitz, L., D. H. Schoenmakers, L. A. Adang, S. Beck-Woedl, C. Bergner, G. Bernard, A. Bley, A. Boyer, V. Calbi, H. Dekker et al. "Newborn Screening in Metachromatic Leukodystrophy - European Consensus-Based Recommendations on Clinical Management." European Journal of Paediatric Neurology, vol. 49, 2024, pp. 141-154, doi:10.1016/j.ejpn.2024.03.003.

Lerche, S., I. Wurster, E. M. Valente, M. Avenali, D. Samaniego, M. Martinez-Vicente, J. Hernández-Vara, A. Laguna, A. Sturchio, P. Svenningsson et al. "Csf D18:1 Sphingolipid Species in Parkinson Disease and Dementia with Lewy Bodies with and without <I>Gba1</I> Variants." Npj Parkinsons Disease, vol. 10, no. 1, 2024, p. 6, doi:10.1038/s41531-024-00820-0.

Libri, I., V. Cantoni, A. Benussi, J. Rivolta, C. Ferrari, R. Fancellu, M. Synofzik, A. Alberici, A. Padovani and B. Borroni. "Comparing Cerebellar Tdcs and Cerebellar Tacs in Neurodegenerative Ataxias Using Wearable Sensors: A Randomized, Double-Blind, Sham-Controlled, Triple-Crossover Trial." Cerebellum, vol. 23, no. 2, 2024, pp. 570-578, doi:10.1007/s12311-023-01578-6.

Linnemann, C., C. Wilke, D. Mengel, H. Zetterberg, C. Heller, J. Kuhle, A. Bouzigues, L. L. Russell, P. H. Foster, E. Ferry-Bolder et al. "Nfl Reliability across Laboratories, Stage-Dependent Diagnostic Performance and Matrix Comparability in Genetic Ftd: A Large Genfi Study." Journal of Neurology Neurosurgery and Psychiatry, vol. 95, no. 9, 2024, pp. 822-828, doi:10.1136/jnnp-2023-332464.

Liu, J., Y. He, C. Lwin, M. Han, B. Guan, A. Naik, C. Bender, N. Moore, L. A. Huryn, Y. Sergeev et al. "Neuropathy Target Esterase Activity Defines Phenotypes among Pnpla6 Disorders." Brain, vol. 147, no. 6, 2024, pp. 2085-2097, doi:10.1093/brain/awae055.

Liu, X. L., P. S. Jones, M. Pasternak, M. Masellis, A. Bouzigues, L. L. Russell, P. H. Foster, E. Ferry-Bolder, J. van Swieten, L. Jiskoot et al. "Frontoparietal Network Integrity Supports Cognitive Function in Pre-Symptomatic Frontotemporal Dementia: Multimodal Analysis of Brain Function, Structure, and Perfusion." Alzheimers & Dementia, vol. 20, no. 12, 2024, p. 19, doi:10.1002/alz.14299.

Lobato, A. G., N. Ortiz-Vega, T. Canic, X. Z. Tao, N. Bucan, K. Ruan, A. P. Rebelo, R. Schule, S. Zuchner, S. Syed et al. "Loss of Fic Causes Progressive Neurodegeneration in a Drosophila Model of Hereditary Spastic Paraplegia." Biochimica Et Biophysica Acta-Molecular Basis of Disease, vol. 1870, no. 7, 2024, p. 9, doi:10.1016/j.bbadis.2024.167348.

Loeffler, M. A., A. Mengel, C. Single, D. Weiss and K. Feil. "Subcutaneous Foslevodopa in Akinetic Crisis. A Case Report from the Neurological Intensive Care Unit." Frontiers in Medicine, vol. 11, 2024, p. 6, doi:10.3389/fmed.2024.1446345.

Loenneker, H. D., C. Artemenko, K. Willmes, I. Liepelt-Scarfone and H. C. Nuerk. "Deficits in or Preservation of Basic Number Processing in Parkinson's Disease? A Registered Report." Journal of Neuroscience Research, vol. 102, no. 11, 2024, p. 30, doi:10.1002/jnr.25397.

Ma, Yihua, Carly M. Farris, Sandrina Weber, Sebastian Schade, Hieu Nguyen, Alexandra Perez-Soriano, Darly M. Giraldo, Manel Fernandez, Marta Soto, Ana Camara et al. "Sensitivity and Specificity of a Seed Amplification Assay for Diagnosis of Multiple System Atrophy: A Multicentre Cohort Study." The Lancet. Neurology, vol. 23, no. 12, 2024, pp. 1225-1237, doi:10.1016/s1474-4422(24)00395-8.

Mahdieh, N., M. Heidari, Z. Rezaei, A. R. Tavasoli, S. Hosseinpour, M. Rasulinejad, A. Z. Dehnavi, M. G. Akbari, R. S. Badv, E. Vafaei et al. "The Genetic Basis of Early-Onset Hereditary Ataxia in Iran: Results of a National Registry of a Heterogeneous Population." Human Genomics, vol. 18, no. 1, 2024, p. 18, doi:10.1186/s40246-024-00598-5.

Malina, J., E. M. Huessler, K. H. Jöckel, E. Boog-Whiteside, N. Jeschonneck, B. Schröder, R. Schüle, T. Kühl and S. Klebe. "Development and Validation of Treathsp-Qol: A Patient-Reported Outcome Measure for Health-Related Quality of Life in Hereditary Spastic Paraplegia." Orphanet Journal of Rare Diseases, vol. 19, no. 1, 2024, p. 14, doi:10.1186/s13023-023-03012-w.

Manibarathi, K., T. Pham, H. Hengel, M. Synofzik, M. Nagel and R. Schuele. "An Ipsc Model for Polr3a-Associated Spastic Ataxia: Generation of Three Unrelated Patient Cell Lines." Stem Cell Research, vol. 76, 2024, p. 5, doi:10.1016/j.scr.2024.103363.

Menon, P. J., S. Sambin, B. Criniere-Boizet, T. Courtin, C. Tesson, F. Casse, M. Ferrien, L. L. Mariani, S. Carvalho, F. X. Lejeune et al. "Genotype-Phenotype Correlation in <I>Prkn-</I>Associated Parkinson's Disease." Npj Parkinsons Disease, vol. 10, no. 1, 2024, p. 12, doi:10.1038/s41531-024-00677-3.

Merk, D. J., F. Tsiami, S. Hirsch, B. Walter, L. A. Haeusser, J. D. Maile, A. Stahl, M. A. Jarboui, A. Lechado-Terradas, F. Klose et al. "Functional Screening Reveals Genetic Dependencies and Diverging Cell Cycle Control in Atypical Teratoid Rhabdoid Tumors." Genome Biology, vol. 25, no. 1, 2024, p. 38, doi:10.1186/s13059-024-03438-w.

Mohren, Lars, Friedrich Erdlenbruch, Elsa Leitao, Fabian Kilpert, G. Sebastian Hones, Sabine Kaya, Christopher Schroder, Andreas Thieme, Marc Sturm, Joohyun Park et al. "Identification and Characterisation of Pathogenic and Non-Pathogenic Fgf14 Repeat Expansions." Nature communications, vol. 15, no. 1, 2024, p. 7665, doi:10.1038/s41467-024-52148-1.

Nanetti, L., M. Kearney, S. Boesch, L. Stovickova, J. D. Ortigoza-Escobar, A. Macaya, D. Gomez-Andres, E. Roze, M. J. Molnar, N. I. Wolf et al. "Child-to-Adult Transition: A Survey of Current Practices within the European Reference Network for Rare Neurological Diseases (Ern-Rnd)." Neurological Sciences, vol. 45, no. 3, 2024, pp. 1007-1016, doi:10.1007/s10072-023-07101-3.

Ojo, O. O., S. Bandres-Ciga, M. B. Makarious, P. W. Crea, D. G. Hernandez, H. Houlden, M. Rizig, A. B. Singleton, A. J. Noyce, M. A. Nalls et al. "<I>Gba</I>1 Rs3115534 Is Associated with Rem Sleep Behavior Disorder in Parkinson's Disease in Nigerians." Movement Disorders, vol. 39, no. 4, 2024, pp. 728-733, doi:10.1002/mds.29753.

Ophey, A., K. Wirtz, S. Wolfsgruber, M. Balzer-Geldsetzer, D. Berg, R. Hilker-Roggendorf, J. Kassubek, I. Liepelt-Scarfone, S. Becker, B. Mollenhauer et al. "Mid- and Late-Life Lifestyle Activities as Main Drivers of General and Domain-Specific Cognitive Reserve in Individuals with Parkinson's Disease: Cross-Sectional and Longitudinal Evidence from the Landscape Study." Journal of Neurology, vol. 271, no. 8, 2024, pp. 5411-5424, doi:10.1007/s00415-024-12484-0.

Pagano, G., A. Monnet, A. Reyes, B. Ribba, H. Svoboda, T. Kustermann, T. Simuni, R. B. Postuma, N. Pavese, F. Stocchi et al. "Sustained Effect of Prasinezumab on Parkinson's Disease Motor Progression in the Open-Label Extension of the Pasadena Trial." Nature Medicine, vol. 30, no. 12, 2024, p. 21, doi:10.1038/s41591-024-03270-6.

Pagano, G., K. I. Taylor, J. A. Cabrera, T. Simuni, K. Marek, R. B. Postuma, N. Pavese, F. Stocchi, K. Brockmann, H. Svoboda et al. "Prasinezumab Slows Motor Progression in Rapidly Progressing Early-Stage Parkinson's Disease." Nature Medicine, vol. 30, no. 3, 2024, p. 15, doi:10.1038/s41591-024-02886-y.

Papagiannakis, N., H. Liu, C. Koros, A. M. Simitsi, M. Stamelou, M. Maniati, E. Buena-Atienza, C. Kartanou, G. Karadima, P. Makrythanasis et al. "Parkin Mrna Expression Levels in Peripheral Blood Mononuclear Cells in Parkin-Related Parkinson's Disease." Movement Disorders, vol. 39, no. 4, 2024, pp. 715-722, doi:10.1002/mds.29739.

Park, J., T. Bremova-Ertl, M. Brands, T. Foltan, M. Gautschi, P. Gissen, A. Hahn, S. Jones, L. Arash-Kaps, M. Kolnikova et al. "Assessment of the Reliability, Responsiveness, and Meaningfulness of the Scale for the Assessment and Rating of Ataxia (Sara) for Lysosomal Storage Disorders." Journal of Neurology, 2024, p. 15, doi:10.1007/s00415-024-12664-y.

Passos, V., L. M. Henkel, J. Y. Wang, F. J. Zapatero-Belinchón, R. Möller, G. R. Sun, I. Waltl, T. Schneider, A. Wachs, B. Ritter et al. "Innate Immune Response to Sars-Cov-2 Infection Contributes to Neuronal Damage in Human Ipsc-Derived Peripheral Neurons." Journal of Medical Virology, vol. 96, no. 2, 2024, p. 16, doi:10.1002/jmv.29455.

Pasternak, M., S. S. Mirza, N. Luciw, Hjmm Mutsaerts, J. Petr, D. Thomas, D. Cash, M. Bocchetta, M. C. Tartaglia, S. B. Mitchell et al. "Longitudinal Cerebral Perfusion in Presymptomatic Genetic Frontotemporal Dementia: Genfi Results." Alzheimers & Dementia, vol. 20, no. 5, 2024, pp. 3525-3542, doi:10.1002/alz.13750.

Pavelka, L., A. Rauschenberger, A. Hemedan, M. Ostaszewski, E. Glaab, R. Kruger and Ncer Pd Consortium. "Converging Peripheral Blood Microrna Profiles in Parkinson's Disease and Progressive Supranuclear Palsy." Brain Communications, vol. 6, no. 3, 2024, p. 18, doi:10.1093/braincomms/fcae187.

Pellerin, D., M. C. Danzi, M. Renaud, H. Houlden, M. Synofzik, S. Zuchner and B. Brais. "Spinocerebellar Ataxia 27b: A Novel, Frequent and Potentially Treatable Ataxia." Clinical and Translational Medicine, vol. 14, no. 1, 2024, p. 14, doi:10.1002/ctm2.1504.

Pellerin, D., G. F. Del Gobbo, M. Couse, E. Dolzhenko, S. K. Nageshwaran, W. A. Cheung, I. R. L. Xu, M. J. Dicaire, G. Spurdens, G. Matos-Rodrigues et al. "A Common Flanking Variant Is Associated with Enhanced Stability of the <I>Fgf14</I>-Sca27b Repeat Locus." Nature Genetics, vol. 56, no. 7, 2024, p. 18, doi:10.1038/s41588-024-01808-5.

Pellerin, D., F. Heindl, A. Traschuetz, D. Rujescu, A. M. Hartmann, B. Brais, H. Houlden, C. Dufke, O. Riess, T. Haack et al. "<I>Rfc1</I> Repeat Expansions in Downbeat Nystagmus Syndromes: Frequency and Phenotypic Profile." Journal of Neurology, vol. 271, no. 5, 2024, pp. 2886-2892, doi:10.1007/s00415-024-12229-z.

Pellerin, D., F. Heindl, C. Wilke, M. C. Danzi, A. Traschütz, C. Ashton, M. J. Dicaire, A. Cuillerier, G. Del Gobbo, K. M. Boycott et al. "Gaa-<I>Fgf14 </I>Disease: Defining Its Frequency, Molecular Basis, and 4-Aminopyridine Response in a Large Downbeat Nystagmus Cohort." Ebiomedicine, vol. 102, 2024, p. 17, doi:10.1016/j.ebiom.2024.105076.

Pellerin, D., J. Seemann, A. Traschütz, B. Brais, W. Ilg and M. Synofzik. "Reduced Age-Dependent Penetrance of a Large <I>Fgf14</I> Gaa Repeat Expansion in a 74-Year-Old Woman from a German Family with Sca27b." Movement Disorders, vol. 39, no. 10, 2024, pp. 1892-1894, doi:10.1002/mds.29915.

Pellerin, D., C. Wilke, A. Traschütz, S. Nagy, R. Currò, M. J. Dicaire, H. Garcia-Moreno, M. Anheim, T. Wirth, J. Faber et al. "Intronic <I>Fgf14</I> Gaa Repeat Expansions Are a Common Cause of Ataxia Syndromes with Neuropathy and Bilateral Vestibulopathy." Journal of Neurology Neurosurgery and Psychiatry, vol. 95, no. 2, 2024, pp. 175-179, doi:10.1136/jnnp-2023-331490.

Potashman, M., K. Rudell, I. Pavisic, N. Suminski, R. Doma, M. Heinrich, L. Abetz-Webb, M. W. Beiner, S. H. Kuo, L. S. Rosenthal et al. "Content Validity of the Modified Functional Scale for the Assessment and Rating of Ataxia (F-Sara) Instrument in Spinocerebellar Ataxia." Cerebellum, vol. 23, no. 5, 2024, pp. 2012-2027, doi:10.1007/s12311-024-01700-2.

Premi, E., M. Diano, I. Mattioli, D. Altomare, V. Cantoni, M. Bocchetta, R. Gasparotti, E. Buratti, M. Pengo, A. Bouzigues et al. "Impaired Glymphatic System in Genetic Frontotemporal Dementia: A Genfi Study." Brain Communications, vol. 6, no. 4, 2024, p. 12, doi:10.1093/braincomms/fcae185.

Raposo, M., J. Hübener-Schmid, R. Tagett, A. F. Ferreira, A. R. V. Melo, J. Vasconcelos, P. Pires, T. Kay, H. Garcia-Moreno, P. Giunti et al. "Blood and Cerebellar Abundance of<I> Atxn3</I> Splice Variants in Spinocerebellar Ataxia Type 3/Machado-Joseph Disease." Neurobiology of Disease, vol. 193, 2024, p. 11, doi:10.1016/j.nbd.2024.106456.

Reilmann, R., K. E. Anderson, A. Feigin, S. J. Tabrizi, B. R. Leavitt, J. C. Stout, P. Piccini, R. Schubert, P. Loupe, A. Wickenberg et al. "Safety and Efficacy of Laquinimod for Huntington's Disease (Legato-Hd): A Multicentre, Randomised, Double-Blind, Placebo-Controlled, Phase 2 Study." Lancet Neurology, vol. 23, no. 3, 2024, pp. 243-255, doi:10.1016/s1474-4422(23)00454-4.

Rezende, T. J. R., I. Adanyaguh, O. G. P. Barsottini, B. Bender, F. Cendes, L. Coutinho, A. Deistung, I. Dogan, A. Durr, J. Fernandez-Ruiz et al. "Genotype-Specific Spinal Cord Damage in Spinocerebellar Ataxias: An Enigma-Ataxia Study." Journal of Neurology Neurosurgery and Psychiatry, vol. 95, no. 7, 2024, pp. 682-690, doi:10.1136/jnnp-2023-332696.

Riedel, A., C. Faul, K. Reuss, J. C. Schröder, P. J. Lang, C. Lengerke, N. Weissert, H. Hengel, S. Gröschel, L. Schoels et al. "Allogeneic Hematopoietic Cell Transplantation for Adult Metachromatic Leukodystrophy: A Case Series." Blood Advances, vol. 8, no. 6, 2024, pp. 1504-1508, doi:10.1182/bloodadvances.2023011836.

Roeben, B., I. Liepelt-Scarfone, S. Lerche, M. Zimmermann, I. Wurster, U. Sünkel, C. Schulte, C. Deuschle, G. W. Eschweiler, W. Maetzler et al. "Longitudinal Cognitive Decline Characterizes the Profile of Non-Pd-Manifest <I>Gba1</I> Mutation Carriers." Npj Parkinsons Disease, vol. 10, no. 1, 2024, p. 9, doi:10.1038/s41531-024-00706-1.

Rudolph, J., J. Rueckel, J. Döpfert, W. X. Ling, J. Opalka, C. Brem, N. Hesse, M. Ingenerf, V. Koliogiannis, O. Solyanik et al. "Artificial Intelligence-Based Rapid Brain Volumetry Substantially Improves Differential Diagnosis in Dementia." Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring, vol. 16, no. 4, 2024, p. 11, doi:10.1002/dad2.70037.

Samanci, B., E. Sahin, Y. Samanci, B. Bilgiç, B. Atasu, E. Lohmann, S. Peker and H. A. Hanagasi. "Pallidal Deep Brain Stimulation Improves <I>Hpca</I>-Linked (Dyt 2) Dystonia." Movement Disorders Clinical Practice, vol. 11, no. 2, 2024, pp. 184-187, doi:10.1002/mdc3.13947.

Samra, K., G. Peakman, A. M. MacDougall, A. Bouzigues, C. V. Greaves, R. S. Convery, J. C. van Swieten, L. Jiskoot, H. Seelaar, F. Moreno et al. "Extending the Phenotypic Spectrum Assessed by the Cdr Plus Nacc Ftld in Genetic Frontotemporal Dementia." Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring, vol. 16, no. 2, 2024, p. 14, doi:10.1002/dad2.12571.

Santorelli, F. M., H. S. McLoughlin, J. M. Wolter, D. Galatolo, M. Synofzik, D. Mengel, P. Opal and A. GI-WG2-Biomarkers Study Grp. "Standards of Fluid Biomarker Collection and Pre-Analytical Processes in Humans and Mice: Recommendations by the Ataxia Global Initiative Working Group on Biomarkers." Cerebellum, vol. 23, no. 3, 2024, pp. 881-886, doi:10.1007/s12311-023-01561-1.

Sardi, S. Pablo and Moves-Pd authors. "Venglustat in Gba1-Related Parkinson's Disease - Authors' Reply." The Lancet. Neurology, vol. 23, no. 2, 2024, pp. 137-138, doi:10.1016/s1474-4422(23)00470-2.

Scaravilli, A., I. Gabusi, G. Mari, M. Battocchio, S. Bosticardo, S. Schiavi, B. Bender, C. Kessler, B. Brais, R. La Piana et al. "An Mri Evaluation of White Matter Involvement in Paradigmatic Forms of Spastic Ataxia: Results from the Multi-Center Prospax Study." Journal of Neurology, vol. 271, no. 8, 2024, pp. 5468-5477, doi:10.1007/s00415-024-12505-y.

Scaravilli, A., D. Negroni, C. Senatore, L. Ugga, M. Cosottini, I. Ricca, B. Bender, A. Traschuetz, A. N. Basak, A. Vural et al. "Mri-Arsacs: An Imaging Index for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (Arsacs) Identification Based on the Multicenter Prospax Study." Movement Disorders, vol. 39, no. 8, 2024, pp. 1343-1351, doi:10.1002/mds.29871.

Scaravilli, A., M. Tranfa, G. Pontillo, B. Brais, G. De Michele, R. La Piana, F. Sacca, F. M. Santorelli, M. Synofzik, A. Brunetti et al. "Charon: An Imaging-Based Diagnostic Algorithm to Navigate through the Sea of Hereditary Degenerative Ataxias." Cerebellum, 2024, p. 8, doi:10.1007/s12311-024-01677-y.

Scaravilli, A., M. Tranfa, G. Pontillo, B. Brais, G. De Michele, R. La Piana, F. Sacca, F. M. Santorelli, M. Synofzik, A. Brunetti et al. "A Review of Brain and Pituitary Gland Mri Findings in Patients with Ataxia and Hypogonadism." Cerebellum, vol. 23, no. 2, 2024, pp. 757-774, doi:10.1007/s12311-023-01562-0.

Schaeffer, E., A. Kluge, C. Schulte, C. Deuschle, J. Bunk, J. Welzel, W. Maetzler and D. Berg. "Association of Misfolded ∼Synuclein Derived from Neuronal Exosomes in Blood with Parkinson's Disease Diagnosis and Duration." Journal of Parkinsons Disease, vol. 14, no. 4, 2024, pp. 667-679, doi:10.3233/jpd-230390.

Schalkamp, A. K., S. Lerche, I. Wurster, B. Roeben, M. Zimmermann, F. Fries, A. K. von Thaler, G. Eschweiler, W. Maetzler, D. Berg et al. "Machine Learning-Based Personalized Composite Score Dissects Risk and Protective Factors for Cognitive and Motor Function in Older Participants." Frontiers in Aging Neuroscience, vol. 16, 2024, p. 11, doi:10.3389/fnagi.2024.1447944.

Schmidt, Axel, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet, Hannah Klinkhammer, Tzung-Chien Hsieh, Hartmut Engels, Sophia Peters, Alexej Knaus, Shahida Moosa et al. "Next-Generation Phenotyping Integrated in a National Framework for Patients with Ultrarare Disorders Improves Genetic Diagnostics and Yields New Molecular Findings." Nature Genetics, vol. 56, no. 8, 2024, pp. 1644-1653, doi:10.1038/s41588-024-01836-1.

Schmitz, A. S., J. Raju, W. Köhler, S. Klebe, K. Cheheb, F. Reschke, S. Biskup, T. B. Haack, B. Roeben, M. Kellner et al. "Novel Variants in <I>Csf1r</I> Associated with Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (Alsp)." Journal of Neurology, vol. 271, no. 9, 2024, pp. 6025-6037, doi:10.1007/s00415-024-12557-0.

Schoenecker, S., F. J. Martinez-Murcia, J. Denecke, N. Franzmeier, A. Danek, O. Wagemann, C. Prix, E. Wlasich, J. Voeglein, S. V. Loosli et al. "Frequency and Longitudinal Course of Behavioral and Neuropsychiatric Symptoms in Participants with Genetic Frontotemporal Dementia." Neurology, vol. 103, no. 8, 2024, p. 17, doi:10.1212/wnl.0000000000209569.

Schoenmakers, D. H., F. Mochel, L. A. Adang, J. J. Boelens, V. Calbi, E. A. Eklund, S. W. Gronborg, F. Fumagalli, S. Groeschel, C. Lindemans et al. "Inventory of Current Practices Regarding Hematopoietic Stem Cell Transplantation in Metachromatic Leukodystrophy in Europe and Neighboring Countries." Orphanet Journal of Rare Diseases, vol. 19, no. 1, 2024, p. 9, doi:10.1186/s13023-024-03075-3.

Schuele, R., M. Synofzik, H. Graessner and A. Aartsma-Rus. "Advancing Aso Therapies from Development to Implementation." Nature Medicine, 2024, p. 2, doi:10.1038/s41591-024-03217-x.

Seemann, J., L. Daghsen, M. Cazier, J. C. Lamy, M. L. Welter, M. A. Giese, M. Synofzik, A. Durr, W. Ilg and G. Coarelli. "Digital Gait Measures Capture 1-Year Progression in Early-Stage Spinocerebellar Ataxia Type 2." Movement Disorders, vol. 39, no. 5, 2024, pp. 788-797, doi:10.1002/mds.29757.

Sharkia, R., A. Zalan, A. Kessel, W. Al-Shareef, H. Zahalka, H. Hengel, L. Schoels, A. Azem and M. Mahajnah. "<I>Scaper</I>-Related Autosomal Recessive Retinitis Pigmentosa with Intellectual Disability: Confirming and Extending the Phenotypic Spectrum and Bioinformatics Analyses." Genes, vol. 15, no. 6, 2024, p. 16, doi:10.3390/genes15060791.

Sharma, K., A. Kishore, A. Lechado-Terradas, R. Passannanti, F. Raimondi, M. Sturm, A. A. K. Sreelatha, D. K. Puthenveedu, G. Sarma, N. Casadei et al. "A Novel <I>Pink1</I> P.F385s Loss-of-Function Mutation in an Indian Family with Parkinson's Disease." Movement Disorders, vol. 39, no. 7, 2024, pp. 1217-1225, doi:10.1002/mds.29792.

Sosero, Y. L., S. Bandres-Ciga, B. Ferwerda, M. T. P. Tocino, D. R. Belloso, P. Gómez-Garre, J. Faouzi, P. Taba, L. Pavelka, T. M. Marques et al. "Dopamine Pathway and Parkinson's Risk Variants Are Associated with Levodopa-Induced Dyskinesia." Movement Disorders, vol. 39, no. 10, 2024, pp. 1773-1783, doi:10.1002/mds.29960.

Swift, I. J., R. Rademakers, N. Finch, M. Baker, R. Ghidoni, L. Benussi, G. Binetti, G. Rossi, M. Synofzik, C. Wilke et al. "A Systematic Review of Progranulin Concentrations in Biofluids in over 7,000 People-Assessing the Pathogenicity of <I>Grn</I> Mutations and Other Influencing Factors." Alzheimers Research & Therapy, vol. 16, no. 1, 2024, p. 13, doi:10.1186/s13195-024-01420-z.

Thomsen, M., K. Marth, S. Loens, J. Everding, J. Junker, F. Borngräber, F. Ott, S. Jesús, M. Gelderblom, T. Odorfer et al. "Large-Scale Screening: Phenotypic and Mutational Spectrum in Isolated and Combined Dystonia Genes." Movement Disorders, vol. 39, no. 3, 2024, pp. 526-538, doi:10.1002/mds.29693.

Tönges, L., C. Buhmann, C. Eggers, S. Lorenzl, T. Warnecke and Group German Parkinson Guideline. "Guideline "Parkinson's Disease" of the German Society of Neurology (Deutsche Gesellschaft Für Neurologie): Concepts of Care." Journal of Neurology, vol. 271, no. 12, 2024, pp. 7377-7386, doi:10.1007/s00415-024-12546-3.

Traschütz, A., Z. Fleszar, H. Hengel, T. Klockgether, F. Erdlenbruch, B. H. Falkenburger, T. Klopstock, Ö Öztop-Çakmak, J. L. Pedroso, F. M. Santorelli et al. "Fars-Adl across Ataxias: Construct Validity, Sensitivity to Change, and Minimal Important Change." Movement Disorders, vol. 39, no. 6, 2024, pp. 965-974, doi:10.1002/mds.29788.

Tunca, C., E. E. I. Camadan, N. Smolina, R. J. Palvadeau, ÖÖ Çakmak, A. Vural, A. Traschütz, F. M. Santorelli, B. Brais, R. Schüle et al. "Sacsin Levels in Pbmcs: A Diagnostic Assay for Sacs Variants in Peripheral Blood Cells - a Prospax Study." Movement Disorders, vol. 39, no. 12, 2024, pp. 2291-2297, doi:10.1002/mds.30012.

Uebachs, M., P. Wegner, S. Schaaf, S. Kugai, H. Jacobi, S. H. Kuo, T. Ashizawa, J. Fluck, T. Klockgether, J. Faber et al. "Scaview: An Intuitive Visual Approach to the Integrative Analysis of Clinical Data in Spinocerebellar Ataxias." Cerebellum, vol. 23, no. 3, 2024, pp. 887-895, doi:10.1007/s12311-023-01546-0.

Upadhyay, N., A. Spottke, A. Schneider, D. C. Hoffmann, I. Frommann, T. Ballarini, K. Fliessbach, B. Bender, H. R. Heekeren, J. D. Haynes et al. "Fronto-Striatal Alterations Correlate with Apathy Severity in Behavioral Variant Frontotemporal Dementia." Brain Imaging and Behavior, vol. 18, no. 1, 2024, pp. 66-72, doi:10.1007/s11682-023-00812-3.

Weber, J. J., L. Czisch, P. P. Sena, F. Fath, C. Huridou, N. Schwarz, R. D. I. Eltemur, A. Würth, D. Weishäupl, M. Döcker et al. "The Parkin V380l Variant Is a Genetic Modifier of Machado-Joseph Disease with Impact on Mitophagy." Acta Neuropathologica, vol. 148, no. 1, 2024, p. 18, doi:10.1007/s00401-024-02762-6.

Weber, N., M. Buchholz, A. Rädke, J. Faber, T. Schmitz-Hübsch, H. Jacobi, T. Klockgether, W. Hoffmann, B. Michalowsky, Eurosca Study Grp et al. "Factors Influencing Health-Related Quality of Life of Patients with Spinocerebellar Ataxia." Cerebellum, vol. 23, no. 4, 2024, pp. 1466-1477, doi:10.1007/s12311-024-01657-2.

Weise, C. M., A. Engel, M. Polyakova, Q. Wu, K. Mueller, S. Herzig, R. Jech, J. Diehl-Schmid, L. Riedl, S. Anderl-Straub et al. "Dissecting Neural Correlates of Theory of Mind and Executive Functions in Behavioral Variant Frontotemporal Dementia." Alzheimers Research & Therapy, vol. 16, no. 1, 2024, p. 17, doi:10.1186/s13195-024-01596-4.

Weise, D., I. Claus, C. Dresel, E. Kalbe, I. Liepelt-Scarfone, S. Lorenzl, C. Redecker and P. P. Urban. "Multidisciplinary Care in Parkinson's Disease." Journal of Neural Transmission, vol. 131, no. 10, 2024, pp. 1217-1227, doi:10.1007/s00702-024-02807-w.

Witt, K., J. Levin, T. van Eimeren, A. Hasan, G. Ebersbach and Group German Parkinson's Guideline. "Diagnostics and Treatment of Impulse Control Disorders, Psychosis and Delirium: Systemic Review-Based Recommendations - Guideline "Parkinson's Disease" of the German Society of Neurology." Journal of Neurology, vol. 271, no. 12, 2024, pp. 7402-7421, doi:10.1007/s00415-024-12576-x.

Ye, L., S. Greten, F. Wegner, J. Doll-Lee, L. Krey, J. Heine, F. Gandor, A. Vogel, L. Berger, D. Gruber et al. "The Comorbidity Profiles and Medication Issues of Patients with Multiple System Atrophy: A Systematic Cross-Sectional Analysis." Journal of Neurology, vol. 271, no. 5, 2024, pp. 2639-2648, doi:10.1007/s00415-024-12207-5.

Zimmermann, M., M. Fandrich, M. Jakobi, B. Röben, I. Wurster, S. Lerche, C. Schulte, S. Zimmermann, C. Deuschle, N. Schneiderhan-Marra et al. "Association of Elevated Cerebrospinal Fluid Levels of the Longevity Protein Α-Klotho with a Delayed Onset of Cognitive Impairment in Parkinson's Disease Patients." European Journal of Neurology, vol. 31, no. 10, 2024, p. 8, doi:10.1111/ene.16388.

Zimmermann, M., M. Fandrich, M. Jakobi, B. Roben, I. Wurster, S. Lerche, C. Schulte, S. Zimmermann, C. Deuschle, N. Schneiderhan-Marra et al. "Tissue Factor and Its Cerebrospinal Fluid Protein Profiles in Parkinson's Disease." Journal of Parkinsons Disease, vol. 14, no. 7, 2024, pp. 1405-1416, doi:10.3233/jpd-240115.