Visootsak, Jeannie

Advances in the Treatment of Fragile X Syndrome

Hagerman, R. J., Berry-Kravis, E., Kaufmann, W. E., Ono, M. Y., Tartaglia, N., Lachiewicz, A., Kronk, R., Delahunty, C., Hessl, D., Visootsak, J., et al. (2009) · Pediatrics

Genetics and Neurodevelopmental DisordersGenetic Neurodegenerative Diseases

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Mavoglurant in fragile X syndrome: Results of two randomized, double-blind, placebo-controlled trials

Berry-Kravis, E., Des Portes, V., Hagerman, R., Jacquemont, S., Charles, P., Visootsak, J., Brinkman, M., Rerat, K., Koumaras, B., Zhu, L., et al. (2016) · Science Translational Medicine

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

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Fragile X syndrome: a review of associated medical problems

Kidd, S. A., Lachiewicz, A., Barbouth, D., Blitz, R. K., Delahunty, C., McBrien, D., Visootsak, J., & Berry-Kravis, E. (2014) · Pediatrics

Genetics and Neurodevelopmental DisordersDown syndrome and intellectual disability research

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Arbaclofen in fragile X syndrome: results of phase 3 trials

Berry-Kravis, E., Hagerman, R., Visootsak, J., Budimirovic, D., Kaufmann, W. E., Cherubini, M., Zarevics, P., Walton-Bowen, K., Wang, P., Bear, M. F., et al. (2017) · Journal of Neurodevelopmental Disorders

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

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Independent role for presynaptic FMRP revealed by an FMR1 missense mutation associated with intellectual disability and seizures

Myrick, L. K., Deng, P.-Y., Hashimoto, H., Oh, Y. M., Cho, Y., Poidevin, M. J., Suhl, J. A., Visootsak, J., Cavalli, V., Jin, P., et al. (2015) · Proceedings of the National Academy of Sciences

Genetics and Neurodevelopmental DisordersNeuroscience and Neuropharmacology Research

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A double-blind, randomized, placebo-controlled clinical study of trofinetide in the treatment of fragile X syndrome

Berry-Kravis, E., Horrigan, J. P., Tartaglia, N., Hagerman, R., Kolevzon, A., Erickson, C. A., Hatti, S., Snape, M., Yaroshinsky, A., Stoms, G., et al. (2020) · Pediatric Neurology

Genetics and Neurodevelopmental DisordersAlzheimer's disease research and treatments

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Pharmacological interventions to improve cognition and adaptive functioning in down syndrome: strides to date.

Hart, S. J., Visootsak, J., Tamburri, P., Phuong, P., Baumer, N., Hernandez, M., Skotko, B. G., Ochoa‐Lubinoff, C., Liogier D'Ardhuy, X., Kishnani, P. S., et al. (2017) · American Journal of Medical Genetics Part A

Down syndrome and intellectual disability researchAlzheimer's disease research and treatments

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A randomized, double-blind, placebo-controlled phase II trial to explore the effects of a GABAA-α5 NAM (basmisanil) on intellectual disability associated with Down syndrome

Goeldner, C., Kishnani, P. S., Skotko, B. G., Casero, J. L., Hipp, J. F., Derks, M., Hernandez, M.-C., Khwaja, O., Lennon-Chrimes, S., Noeldeke, J., et al. (2022) · Journal of Neurodevelopmental Disorders

Down syndrome and intellectual disability researchAlzheimer's disease research and treatments

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