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Foley, A. R., Yun, P., Leach, M. E., Neuhaus, S. B., Averion, G. V., Hu, Y., Hayes, L. H., Donkervoort, S., Jain, M. S., Waite, M., Parks, R., Bharucha-Goebel, D. X., Mayer, O. H., Zou, Y., Fink, M., DeCoster, J., Mendoza, C., Arévalo, C., Hausmann, R., … Bönnemann, C. G. (2024). Phase 1 Open-Label Study of Omigapil in Patients With LAMA2- or COL6-Related Dystrophy. Neurology Genetics, 10(3). https://doi.org/10.1212/nxg.0000000000200148

Schiava, M., Ikenaga, C., Topf, A., Caballero-Ávila, M., Chou, T.-F., Li, S., Wang, F., Daw, J., Stojkovic, T., Villar-Quiles, R., Nishino, I., Inoue, M., Nishimori, Y., Saito, Y., Katsuno, M., Noda, S., Ito, C., Otsuka, M., Nahir, S., … Weihl, C. C. (2023). Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy. Neurology Genetics, 9(5). https://doi.org/10.1212/nxg.0000000000200093

Monfrini, E., Pesini, A., Biella, F., Sobreira, C. F. R., Emmanuele, V., Brescia, G., Lopez, L. C., Tadesse, S., Hirano, M., Comi, G. P., Quinzii, C. M., & Di Fonzo, A. (2023). Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency. Neurology Genetics, 9(2). https://doi.org/10.1212/nxg.0000000000200058

Moufawad El Achkar, C., Rosen, A., Kessler, S. K., Steinman, K. J., Spence, S. J., Ramocki, M., Marco, E. J., Green Snyder, L., Spiro, J. E., Chung, W. K., Annapurna, P., & Sherr, E. H. (2022). Clinical Characteristics of Seizures and Epilepsy in Individuals With Recurrent Deletions and Duplications in the 16p11.2 Region. Neurology Genetics, 8(5). https://doi.org/10.1212/nxg.0000000000200018

Jensen-Roberts, S., Myers, T. L., Auinger, P., Cannon, P., Rowbotham, H. M., Coker, D., Chanoff, E., Soto, J., Pawlik, M., Amodeo, K., Sharma, S., Valdovinos, B., Wilson, R., Sarkar, A., McDermott, M. P., Alcalay, R. N., Biglan, K., Kinel, D., Tanner, C., … Schneider, R. B. (2022). A Remote Longitudinal Observational Study of Individuals at Genetic Risk for Parkinson Disease. Neurology Genetics, 8(5). https://doi.org/10.1212/nxg.0000000000200008