Publications

Vrolix, L., Legarreta, J. H., van der Heijden, H., van Gool, R., Ray, A., Golden, E., Cay, M., Rathi, Y., Gonzalez-Heydrich, J., O’Donnell, L. J., Shinn, A. K., & Upadhyay, J. (2025). Associations between negative symptoms and thermal pain perception in bipolar I disorder. International Journal of Bipolar Disorders. https://doi.org/10.1186/s40345-025-00403-9

Yekedüz, M. K., Choi, Y., Kim, S.-H., van Gool, R., van der Heijden, H., Vrolix, L., Cobb, B. S., Rutkowe, S., Shulman, J., Beggs, A., Nalini, A., Baskar, D., Baweja, N., Kakkar, P., Al-Hertani, W., Park, H. J., & Upadhyay, J. (2025). A Multinational Study of Patient and Caregiver-Reported Insights Into ADSS1 Myopathy. Muscle & Nerve, 72(6), 1265–1272. https://doi.org/10.1002/mus.70033

Drenthen, G. S., Kool, D., Far, A., Upadhyay, J., Linden, D. E. J., van Gool, R., Goijen, C. P., Merkies, I. S. J., Backes, W.H., Faber, C. G., Jansen, J. F. A., & Hoeijmakers, J. G. J. (2025). Diffusion Tensor Imaging Reveals Altered Centrality of Pain‐Related Regions in SCN9A‐Associated Small Fiber Neuropathy. Journal of Neuroimaging, 35(6)
https://doi.org/10.1111/jon.70105

van Gool, R., Cay, M., van der Heijden, H., Golden, E., Cao, A., Ren, B., Gonzalez-Heydrich, J., Shinn, A. K., & Upadhyay, J. (2025). Neural and Behavioral Markers of Negative Symptoms and Cognitive Impairment in Patients with Psychosis. The Journal of neuroscience : the official journal of the Society for Neuroscience, e0039252025. https://doi.org/10.1523/JNEUROSCI.0039-25.2025

van Gool, R., Al-Hertani, W., Bodamer, O., & Upadhyay, J. (2025). Levacetylleucine (N-acetyl-l-leucine) for Niemann-Pick disease type C. Trends in pharmacological sciences, 46(4), 386–387. https://doi.org/10.1016/j.tips.2025.02.003

Cay, M., van Gool, R., Berry, C., Golden, E., Cao, A., van der Heijden, H., Westbrook, A., Gonzalez-Heydrich, J., Shinn, A. K., & Upadhyay, J. (2025). The Impact of Childhood Maltreatment on Central Pain Processing in Individuals With Psychosis. Bipolar disorders, 10.1111/bdi.70013. https://doi.org/10.1111/bdi.70013

van Gool, R., Cay, M., Ren, B., Brodeur, K., Golden, E., Goodlett, B., Yang, E., Reilly, T., Hastings, C., Berry-Kravis, E. M., Lee, P. Y., Di Biase, M., Cropley, V., Pantelis, C., Velakoulis, D., Shinn, A. K., Al-Hertani, W., Walterfang, M., & Upadhyay, J. (2025). Implications of the choroid plexus in Niemann-Pick disease Type C neuropathogenesis. Brain, behavior, and immunity, 124, 376–384. https://doi.org/10.1016/j.bbi.2024.12.024

van Gool, R., Golden, E., Goodlett, B., Zhang, F., Vogel, A. P., Tourville, J. A., Yao, K., Cay, M., Tiwari, S., Yang, E., Zekelman, L. R., Todd, N., O'Donnell, L. J., Ren, B., Bodamer, O. A., Al-Hertani, W., & Upadhyay, J. (2023). Characterization of central manifestations in patients with Niemann-Pick disease type C. Genetics in medicine: official journal of the American College of Medical Genetics, 26(3), 101053. https://doi.org/10.1016/j.gim.2023.101053

van Gool, R., Far, A., Drenthen, G. S., Jansen, J. F. A., Goijen, C. P., Backes, W. H., Linden, D. E. J., Merkies, I. S. J., Faber, C. G., Upadhyay, J., & Hoeijmakers, J. G. J. (2023) Peripheral pain captured centrally: altered brain morphology on MRI in small fiber neuropathy patients with and without an SCN9A gene variant. Journal of Pain, S1526-5900(23)00576-X. https://doi.org/10.1016/j.jpain.2023.10.002

Cao, A., van Gool, R., Golden, E., Goodlett, B., Camelo, C., Bujoreanu, S., Al-Hertani, W., & Upadhyay, J. (2023). Case report: Chronic pain in a pediatric patient with late-onset pompe disease. Frontiers in pain research (Lausanne, Switzerland), 4, 1244609. https://doi.org/10.3389/fpain.2023.1244609

Golden, E., van Gool, R., Cay, M., Goodlett, B., Cao, A., Al-Hertani, W., & Upadhyay, J. (2023). The experience of living with Niemann-Pick type C: a patient and caregiver perspective. Orphanet journal of rare diseases, 18(1), 120. https://doi.org/10.1186/s13023-023-02741-2

Tucker-Bartley, A., Selen, D.J., Golden, E., van Gool, R., Ebb, D., Mannstadt, M., Upadhyay, J. (2023) Pharmacological Interventions Targeting Pain in Fibrous Dysplasia/McCune–Albright Syndrome. International Journal of Molecular Sciences, 24(3), 2550. https://doi.org/10.3390/ijms24032550

van Gool, R., Tucker-Bartley, A., Yang, E., Todd, N., Guenther, F., Goodlett, B., Al-Hertani, W., Bodamer, O.A., Upadhyay, J. (2022). Targeting Neurological Abnormalities in Lysosomal Storage Diseases. Trends in Pharmacological Sciences, 43(6), 495–509. https://doi.org/10.1016/j.tips.2021.11.005

Webinar
Acid Maltase Deficiency Association

In this presentation, Raquel provides a short description of neurological signs and symptoms that have been reported in patients with Infantile- or Late-Onset Pompe Disease (IOPD/LOPD). She describes a comprehensive approach toward understanding the neurobiological abnormalities in IOPD/LOPD. Finally, Raquel shares preliminary findings from ongoing studies involving patients with IOPD/LOPD and that are taking place at Boston Children’s Hospital.