Glycogen Metabolism and Myoclonic Disorders

Displaying 1 - 7 of 7CSV
Oh, K., Hamed, M., Zarandi, D., Oluleye, M., Zaher, A., Elsayegh, J., Rizly, S.-A., Ma, X., Ooi, H. Y., Sarva, H., Salgado, M., & Victor, D. (2025). Adult-Onset Myoclonus in a Large Urban Inpatient Setting: A Retrospective Cohort Study. Tremor and Other Hyperkinetic Movements, 15(1). https://doi.org/10.5334/tohm.977
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Calì, F., Ladanyi, A., Pinsino, A., Antler, K., Murphy, J., Mondellini, G. M., Kaku, Y., Sayer, G., Uriel, N., Takeda, K., Colombo, P. C., Jennings, D., & Yuzefpolskaya, M. (2024). Sodium Glucose Co-Transporter 2 Inhibitor Use in HeartMate 3 Patients. The Journal of Heart and Lung Transplantation, 43(4), S647. https://doi.org/10.1016/j.healun.2024.02.1028
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Sparks, J., Michelassi, F., Thompson, J. L. P., Buchsbaum, R., Pires, N., DeRosa, J. T., Engelstad, K., DiMauro, S., Akman, H. O., & Hirano, M. (2024). A United States-based patient-reported adult polyglucosan body disease registry: initial results. Therapeutic Advances in Rare Disease, 5. https://doi.org/10.1177/26330040241227452
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Palmer, E. E., Pusch, M., Picollo, A., Forwood, C., Nguyen, M. H., Suckow, V., Gibbons, J., Hoff, A., Sigfrid, L., Megarbane, A., Nizon, M., Cogné, B., Beneteau, C., Alkuraya, F. S., Chedrawi, A., Hashem, M. O., Stamberger, H., Weckhuysen, S., Vanlander, A., … Kalscheuer, V. M. (2022). Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition. Molecular Psychiatry, 28(2), 668–697. https://doi.org/10.1038/s41380-022-01852-9
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Clark, L. N., Gao, Y., Wang, G. T., Hernandez, N., Ashley-Koch, A., Jankovic, J., Ottman, R., Leal, S. M., Rodriguez, S. M. B., & Louis, E. D. (2022). Whole genome sequencing identifies candidate genes for familial essential tremor and reveals biological pathways implicated in essential tremor aetiology. EBioMedicine, 85, 104290. https://doi.org/10.1016/j.ebiom.2022.104290
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Striano, P., Auvin, S., Collins, A., Horvath, R., Scheffer, I. E., Tzadok, M., Miller, I., Kay Koenig, M., Lacy, A., Davis, R., Garcia‐Cazorla, A., Saneto, R. P., Brandabur, M., Blair, S., Koutsoukos, T., & De Vivo, D. (2022). A randomized, double‐blind trial of triheptanoin for drug‐resistant epilepsy in glucose transporter 1 deficiency syndrome. Epilepsia, 63(7), 1748–1760. Portico. https://doi.org/10.1111/epi.17263
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Thomas-Wilson, A., Dharmadhikari, A. V., Heymann, J. J., Jobanputra, V., DiMauro, S., Hirano, M., Naini, A. B., & Ganapathi, M. (2022). Whole Exome Sequencing detects PYGM variants in two adults with McArdle disease. Molecular Case Studies, mcs.a006173. https://doi.org/10.1101/mcs.a006173
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