Displaying 1 - 50 of 82CSV
Burt, A. L., L’Italien, G., Perlman, S. L., Rosenthal, L. S., Kuo, S., Ashizawa, T., Zesiewicz, T., Dietiker, C., Opal, P., Duquette, A., Wilmot, G. R., Shakkottai, V. G., Gomez, C. M., Srinivasan, S. R., Paulson, H., Geschwind, M. D., Worley, S., Onyike, C. U., Billnitzer, A., … Schmahmann, J. D. (2025). Spinocerebellar Ataxia Progression Measured with the Patient‐Reported Outcome Measure of Ataxia. Movement Disorders. Portico. https://doi.org/10.1002/mds.30158
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Lin, C.-C., Fang, K.-C., Balbo, I., Liang, T.-Y., Liu, C.-W., Liu, W.-C., Wang, Y.-M., Hung, Y.-L., Yang, K.-C., Geng, S. K., Ni, C.-L., Driscoll, C. P., Ruff, D. S., Kumar, A., Amokrane, N., Desai, N., Faust, P. L., Louis, E. D., Kuo, S.-H., & Pan, M.-K. (2025). Reduced cerebellar rhythm by climbing fiber denervation is linked to motor rhythm deficits in mice and ataxia severity in patients. Science Translational Medicine, 17(787). https://doi.org/10.1126/scitranslmed.adk3922
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Lado, W., Wu, X., Choi, S., Dong, Y., Yang, G., Arancio, O., Tempia, F., Miniaci, M. C., Sulzer, D., Mosharov, E., & Tang, G. (2025). Synaptic plasticity deficits in a mouse model of Timothy syndrome: LTP saturation and its pharmacological rescue by nifedipine. Biomedicine & Pharmacotherapy, 184, 117896. https://doi.org/10.1016/j.biopha.2025.117896
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Rossi, M., Schaake, S., Usnich, T., Boehm, J., Steffen, N., Schell, N., Krüger, C., Gül‐Demirkale, T., Bahr, N., Kleinz, T., Madoev, H., Laabs, B., Gan‐Or, Z., Alcalay, R. N., Lohmann, K., & Klein, C. (2025). Classification and Genotype–Phenotype Relationships of GBA1 Variants: MDSGene Systematic Review. Movement Disorders. Portico. https://doi.org/10.1002/mds.30141
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Kumar, A., Wang, Y.-M., Pan, M.-K., & Kuo, S.-H. (2025). Protocol for recording physiological signals from the human cerebellum using electroencephalography. STAR Protocols, 6(1), 103601. https://doi.org/10.1016/j.xpro.2025.103601
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Potashman, M., Rudell, K., Suminski, N., Doma, R., Heinrich, M., Abetz-Webb, L., Beiner, M. W., Coric, V., Rosenthal, L. S., Kuo, S.-H., Zesiewicz, T., Fife, T. D., van de Warrenburg, B., Ristori, G., Synofzik, M., Subramony, S., Perlman, S., Schmahmann, J. D., & L’Italien, G. (2025). Content Validity of the Friedreich Ataxia Rating Scale in Patients with Spinocerebellar Ataxia. Neurology and Therapy, 14(2), 547–563. https://doi.org/10.1007/s40120-024-00704-8
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Tan, A. H., Saffie-Awad, P., Schumacher Schuh, A. F., Lim, S.-Y., Madoev, H., Ahmad-Annuar, A., Solle, J., Wegel, C. E., Doquenia, M. L., Dey, S., Perinan, M. T., Makarious, M. B., Fiske, B., Morris, H. R., Noyce, A. J., Alcalay, R. N., Kumar, K. R., & Klein, C. (2024). Global Perspectives on Returning Genetic Research Results in Parkinson Disease. Neurology Genetics, 10(6). https://doi.org/10.1212/nxg.0000000000200213
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Jones-Tabah, J., He, K., Karpilovsky, N., Senkevich, K., Deyab, G., Pietrantonio, I., Goiran, T., Cousineau, Y., Nikanorova, D., Goldsmith, T., del Cid Pellitero, E., Chen, C. X.-Q., Luo, W., You, Z., Abdian, N., Ahmad, J., Ruskey, J. A., Asayesh, F., Spiegelman, D., … Fon, E. A. (2024). The Parkinson’s disease risk gene cathepsin B promotes fibrillar alpha-synuclein clearance, lysosomal function and glucocerebrosidase activity in dopaminergic neurons. Molecular Neurodegeneration, 19(1). https://doi.org/10.1186/s13024-024-00779-9
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Chew, E. G., Liu, Z., Li, Z., Chung, S. J., Lian, M. M., Tandiono, M., Heng, Y. J., Ng, E. Y., Tan, L. C., Chng, W. L., Tan, T. J., Peh, E. K., Ho, Y. S., Chen, X. Y., Lim, E. Y., Chang, C. H., Leong, J. J., Peh, T. X., Chan, L. L., … Foo, J. N. (2024). Exome sequencing in Asian populations identifies low-frequency and rare coding variation influencing Parkinson’s disease risk. Nature Aging. https://doi.org/10.1038/s43587-024-00760-7
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Lado, W., Ham, A., Li, H., Zhang, H., Chang, A. Y., Sardi, S. P., Alcalay, R. N., Arancio, O., Przedborsky, S., & Tang, G. (2024). Synaptic and cognitive impairment associated with L444P heterozygous glucocerebrosidase mutation. Brain. https://doi.org/10.1093/brain/awae380
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Lin, Y., & Kuo, S.-H. (2024). The emerging role of the cerebellum in neurodegeneration linked to cognitive impairment. Journal of Alzheimer’s Disease, 102(1), 30–32. https://doi.org/10.1177/13872877241283678
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Grosso Jasutkar, H., Wasserlein, E. M., Ishola, A., Litt, N., Staniszewski, A., Arancio, O., & Yamamoto, A. (2024). Adult-onset deactivation of autophagy leads to loss of synapse homeostasis and cognitive impairment, with implications for alzheimer disease. Autophagy, 20(11), 2540–2555. https://doi.org/10.1080/15548627.2024.2368335
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Senkevich, K., Parlar, S. C., Chantereault, C., Yu, E., Ahmad, J., Ruskey, J. A., Asayesh, F., Spiegelman, D., Waters, C., Monchi, O., Dauvilliers, Y., Dupré, N., Miliukhina, I., Timofeeva, A., Emelyanov, A., Pchelina, S., Greenbaum, L., Hassin-Baer, S., Alcalay, R. N., & Gan-Or, Z. (2024). Are rare heterozygous SYNJ1 variants associated with Parkinson’s disease? Npj Parkinson’s Disease, 10(1). https://doi.org/10.1038/s41531-024-00809-9
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Curtis, J. A., Borders, J. C., Kiefer, B., Alcalay, R. N., Huber, J. E., & Troche, M. S. (2024). Respiratory–Swallow Coordination and Its Relationship With Pharyngeal Residue, Penetration, and Aspiration in People With Parkinson’s Disease. Journal of Speech, Language, and Hearing Research, 67(11), 4314–4338. https://doi.org/10.1044/2024_jslhr-24-00056
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Potashman, M., Rudell, K., Pavisic, I., Suminski, N., Doma, R., Heinrich, M., Abetz-Webb, L., Beiner, M. W., Kuo, S.-H., Rosenthal, L. S., Zesiwicz, T., Fife, T. D., van de Warrenburg, B. P., Ristori, G., Synofzik, M., Perlman, S., Schmahmann, J. D., & L’Italien, G. (2024). Content Validity of the Modified Functional Scale for the Assessment and Rating of Ataxia (f-SARA) Instrument in Spinocerebellar Ataxia. The Cerebellum, 23(5), 2012–2027. https://doi.org/10.1007/s12311-024-01700-2
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Vieira, S. R. L., Mezabrovschi, R., Toffoli, M., Del Pozo, S. L., Menozzi, E., Mullin, S., Yalkic, S., Limbachiya, N., Koletsi, S., Loefflad, N., Lopez, G. J., Gan‐Or, Z., Alcalay, R. N., Sidransky, E., & Schapira, A. H. V. (2024). Consensus Guidance for Genetic Counseling in GBA1 Variants: A Focus on Parkinson’s Disease. Movement Disorders. Portico. https://doi.org/10.1002/mds.30006
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Louis, E. D., Kuo, S.-H., & Faust, P. L. (2024). Purkinje Cell Dendritic Swellings: A Postmortem Study of Essential Tremor and Other Cerebellar Degenerative Disorders. The Cerebellum, 23(6), 2383–2396. https://doi.org/10.1007/s12311-024-01739-1
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Kumar, A., Matulis, K. L., Fadel, Z. A., Fanning, A. S., Amlang, C. J., & Kuo, S.-H. (2024). Effects of Low-Frequency Deep Brain Stimulation in Bilateral Zona Incerta for a Patient With Tremor and Cerebellar Ataxia. Tremor and Other Hyperkinetic Movements, 14, 42. https://doi.org/10.5334/tohm.925
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Sosunov, A. A., McKhann, II, G., Tang, G., & Goldman, J. E. (2024). Cytoplasmic vacuolization and ectopic formation of perineuronal nets are characteristic pathologies of cytomegalic neurons in tuberous sclerosis. Journal of Neuropathology & Experimental Neurology. https://doi.org/10.1093/jnen/nlae079
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Petit, E., Schmitz-Hübsch, T., Coarelli, G., Jacobi, H., Heinzmann, A., Figueroa, K. P., Perlman, S. L., Gomez, C. M., Wilmot, G. R., Schmahmann, J. D., Ying, S. H., Zesiewicz, T. A., Paulson, H. L., Shakkottai, V. G., Bushara, K. O., Kuo, S.-H., Geschwind, M. D., Xia, G., Pulst, S. M., … Tezenas du Montcel, S. (2024). SARA captures disparate progression and responsiveness in spinocerebellar ataxias. Journal of Neurology, 271(7), 3743–3753. https://doi.org/10.1007/s00415-024-12475-1
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Radmard, S., Bassetti, J. A., Mandel, A. M., & Katus, L. (2024). Vignette of a Child with Developmental Regression, Seizures, and Combined Disorders of Movement. Movement Disorders Clinical Practice. Portico. https://doi.org/10.1002/mdc3.14127
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Lai, R.-Y., Levy, E., Amlang, C. J., Rampalli, I., Mahabir, R., Pan, M.-K., Lin, C.-Y. R., & Kuo, S.-H. (2024). Reduced sensitivity to future consequences underlies gambling decision in cerebellar ataxia. Journal of the Neurological Sciences, 461, 123060. https://doi.org/10.1016/j.jns.2024.123060
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Goodman, T. M., Martinez, R. N., Giarrusso, N. L., Thompson, C., & Hoffman, W. R. (2024). Factors That Influence Health care–Seeking Behavior and Health Information Disclosure Among U.S. Air Force Pilots. Military Medicine. https://doi.org/10.1093/milmed/usae310
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Manto, M., Adamaszek, M., Apps, R., Carlson, E., Guarque-Chabrera, J., Heleven, E., Kakei, S., Khodakhah, K., Kuo, S.-H., Lin, C.-Y. R., Joshua, M., Miquel, M., Mitoma, H., Larry, N., Péron, J. A., Pickford, J., Schutter, D. J. L. G., Singh, M. K., Tan, T., … Yamashiro, K. (2024). Consensus Paper: Cerebellum and Reward. The Cerebellum. https://doi.org/10.1007/s12311-024-01702-0
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Wang, Y.-M., Liu, C.-W., Chen, S.-Y., Lu, L.-Y., Liu, W.-C., Wang, J.-H., Ni, C.-L., Wong, S.-B., Kumar, A., Lee, J.-C., Kuo, S.-H., Wu, S.-C., & Pan, M.-K. (2024). Neuronal population activity in the olivocerebellum encodes the frequency of essential tremor in mice and patients. Science Translational Medicine, 16(747). https://doi.org/10.1126/scitranslmed.adl1408
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Shih, L. C., Stevenson, M. T., Bellows, S., Fasano, A., Kuo, S.-H., Lyons, K. E., Moore, H., Shill, H. A., Shukla, A. W., Singer, C., & Elble, R. J. (2024). Validation of a New Patient-Reported Outcome Measure of the Functional Impact of Essential Tremor on Activities of Daily Living. Tremor and Other Hyperkinetic Movements, 14, 26. https://doi.org/10.5334/tohm.886
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Currò, R., Dominik, N., Facchini, S., Vegezzi, E., Sullivan, R., Galassi Deforie, V., Fernández-Eulate, G., Traschütz, A., Rossi, S., Garibaldi, M., Kwarciany, M., Taroni, F., Brusco, A., Good, J.-M., Cavalcanti, F., Hammans, S., Ravenscroft, G., Roxburgh, R. H., … Cortese, A. (2024). Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease. Brain, 147(5), 1887–1898. https://doi.org/10.1093/brain/awad436
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Faust, P. L., McCreary, M., Musacchio, J. B., Kuo, S., Vonsattel, J. G., & Louis, E. D. (2024). Pathologically based criteria to distinguish essential tremor from controls: analyses of the human cerebellum. Annals of Clinical and Translational Neurology, 11(6), 1514–1525. Portico. https://doi.org/10.1002/acn3.52068
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Lai, R., Rummey, C., Amlang, C. J., Lin, C. R., Chen, T. X., Perlman, S., Wilmot, G., Gomez, C. M., Schmahmann, J. D., Paulson, H., Ying, S. H., Onyike, C. U., Zesiewicz, T. A., Bushara, K. O., Geschwind, M. D., Figueroa, K. P., Pulst, S. M., Subramony, S. H., Burns, M. R., … Kuo, S. (2024). Fatigue Impacts Quality of Life in People with Spinocerebellar Ataxias. Movement Disorders Clinical Practice, 11(5), 496–503. Portico. https://doi.org/10.1002/mdc3.14006
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Radmard, S., Amlang, C. J., Weimer, L., & Pullman, S. L. (2023). A Case Series of Isolated Smiling Tremor: What Is the Phenomenology? Movement Disorders Clinical Practice, 11(2), 171–174. Portico. https://doi.org/10.1002/mdc3.13938
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Lin, C.-Y. R., Kuo, S.-H., & Opal, P. (2024). Cognitive, Emotional, and Other Non-motor Symptoms of Spinocerebellar Ataxias. Current Neurology and Neuroscience Reports, 24(3), 47–54. https://doi.org/10.1007/s11910-024-01331-4
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Shani, S., Gana-Weisz, M., Bar-Shira, A., Thaler, A., Gurevich, T., Mirelman, A., Giladi, N., Alcalay, R. N., Goldstein, O., & Orr-Urtreger, A. (2023). MAPT Locus in Parkinson’s Disease Patients of Ashkenazi Origin: A Stratified Analysis. Genes, 15(1), 46. https://doi.org/10.3390/genes15010046
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Keavney, J. L., Mathur, S., Schroeder, K., Merrell, R., Castillo-Torres, S. A., Gao, V., Crotty, G. F., Schwarzschild, M. A., & Poma, J. M. (2024). Perspectives of People At-Risk on Parkinson’s Prevention Research. Journal of Parkinson’s Disease, 14(3), 399–414. https://doi.org/10.3233/jpd-230436
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Ruff, D. S., Balbo, I., Lai, R., Dieng, D., Hennessey, C., Vennam, K., Dwork, A. J., McCreary, M., Louis, E. D., Faust, P. L., & Kuo, S. (2023). Reduced Bergmann glial process terminations and lateral appendages in essential tremor. Annals of Clinical and Translational Neurology, 11(2), 377–388. Portico. https://doi.org/10.1002/acn3.51958
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Nicholas, J., Amlang, C., Lin, C.-Y. R., Montaser-Kouhsari, L., Desai, N., Pan, M.-K., Kuo, S.-H., & Shohamy, D. (2023). The Role of the Cerebellum in Learning to Predict Reward: Evidence from Cerebellar Ataxia. The Cerebellum, 23(4), 1355–1368. https://doi.org/10.1007/s12311-023-01633-2
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Martuscello, R. T., Sivaprakasam, K., Hartstone, W., Kuo, S.-H., Konopka, G., Louis, E. D., & Faust, P. L. (2022). Gene Expression Analysis of Laser-Captured Purkinje Cells in the Essential Tremor Cerebellum. The Cerebellum, 22(6), 1166–1181. https://doi.org/10.1007/s12311-022-01483-4
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Lowell, E. R., Borders, J. C., Perry, S. E., Dakin, A. E., Sevitz, J. S., Kuo, S.-H., & Troche, M. S. (2023). Sensorimotor Cough Dysfunction in Cerebellar Ataxias. The Cerebellum, 23(4), 1338–1347. https://doi.org/10.1007/s12311-023-01635-0
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Miranda, E. E., Hoffman, W. R., Bongers, H., Snyder, Q., Worley, S. Y., Yuan, T., & Tvaryanas, A. (2023). The Case for a Performance-Based Approach to Mental Health Screening in Aviation. Journal of Occupational & Environmental Medicine, 66(2), e77–e79. https://doi.org/10.1097/jom.0000000000003016
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Selvadurai, L. P., Perlman, S. L., Wilmot, G. R., Subramony, S. H., Gomez, C. M., Ashizawa, T., Paulson, H. L., Onyike, C. U., Rosenthal, L. S., Sair, H. I., Kuo, S.-H., Ratai, E.-M., Zesiewicz, T. A., Bushara, K. O., Öz, G., Dietiker, C., Geschwind, M. D., Nelson, A. B., Opal, P., … Schmahmann, J. D. (2022). The S-Factor, a New Measure of Disease Severity in Spinocerebellar Ataxia: Findings and Implications. The Cerebellum, 22(5), 790–809. https://doi.org/10.1007/s12311-022-01424-1
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Senkevich, K., Beletskaia, M., Dworkind, A., Yu, E., Ahmad, J., Ruskey, J. A., Asayesh, F., Spiegelman, D., Fahn, S., Waters, C., Monchi, O., Dauvilliers, Y., Dupré, N., Greenbaum, L., Hassin‐Baer, S., Nagornov, I., Tyurin, A., Miliukhina, I., Timofeeva, A., … Gan‐Or, Z. (2023). Association of Rare Variants in ARSA with Parkinson’s Disease. Movement Disorders, 38(10), 1806–1812. Portico. https://doi.org/10.1002/mds.29521
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Barbuto, S., Lee, S., Stein, J., Kuo, S.-H., Quinn, L., Spinner, M., Derovanessian, T., & Stern, Y. (2023). Physical Activity and Fitness Levels of Individuals With Ataxia: A Cross-Sectional Study. Archives of Physical Medicine and Rehabilitation, 104(10), 1669–1675. https://doi.org/10.1016/j.apmr.2023.06.007
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Manto, M., Serrao, M., Filippo Castiglia, S., Timmann, D., Tzvi-Minker, E., Pan, M.-K., Kuo, S.-H., & Ugawa, Y. (2023). Neurophysiology of cerebellar ataxias and gait disorders. Clinical Neurophysiology Practice, 8, 143–160. https://doi.org/10.1016/j.cnp.2023.07.002
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Martuscello, R. T., Chen, M.-L., Reiken, S., Sittenfeld, L. R., Ruff, D. S., Ni, C.-L., Lin, C.-C., Pan, M.-K., Louis, E. D., Marks, A. R., Kuo, S.-H., & Faust, P. L. (2023). Defective cerebellar ryanodine receptor type 1 and endoplasmic reticulum calcium ‘leak’ in tremor pathophysiology. Acta Neuropathologica, 146(2), 301–318. https://doi.org/10.1007/s00401-023-02602-z
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York, M. K., & Alcalay, R. N. (2023). Enough vs. More: Neuropsychological testing is more useful than genetic testing in the baseline evaluation of Parkinson disease. Parkinsonism & Related Disorders, 111, 105403. https://doi.org/10.1016/j.parkreldis.2023.105403
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Senkevich, K., Zorca, C. E., Dworkind, A., Rudakou, U., Somerville, E., Yu, E., Ermolaev, A., Nikanorova, D., Ahmad, J., Ruskey, J. A., Asayesh, F., Spiegelman, D., Fahn, S., Waters, C., Monchi, O., Dauvilliers, Y., Dupré, N., Greenbaum, L., Hassin-Baer, S., … Gan-Or, Z. (2022). GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson’s disease. Brain, 146(5), 1859–1872. https://doi.org/10.1093/brain/awac413
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Kumar, A., Lyzhko, E., Hamid, L., Srivastav, A., Stephani, U., & Japaridze, N. (2022). Neuronal networks underlying ictal and subclinical discharges in childhood absence epilepsy. Journal of Neurology, 270(3), 1402–1415. https://doi.org/10.1007/s00415-022-11462-8
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Ni, C., Lin, Y., Lu, L., Wang, J., Liu, W., Kuo, S., & Pan, M. (2022). Tracking motion kinematics and tremor with intrinsic oscillatory property of instrumental mechanics. Bioengineering & Translational Medicine, 8(2). Portico. https://doi.org/10.1002/btm2.10432
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