Kishnani, Priya S.

Further understanding the connection between Alzheimer's disease and Down syndrome

Snyder, H. M., Bain, L. J., Brickman, A. M., Carrillo, M. C., Esbensen, A. J., Espinosa, J. M., Fernandez, F., Fortea, J., Hartley, S. L., Head, E., et al. (2020) · Alzheimer's & Dementia

Down syndrome and intellectual disability researchDementia and Cognitive Impairment Research

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Velaglucerase alfa enzyme replacement therapy compared with imiglucerase in patients with Gaucher disease

Turkia, H. B., Gonzalez, D. E., Barton, N. W., Zimran, A., Kabra, M., Lukina, E. A., Giraldo, P., Kisinovsky, I., Bavdekar, A., Dridi, M. B., et al. (2013) · American Journal of Hematology

Lysosomal Storage Disorders ResearchGlycogen Storage Diseases and Myoclonus

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The Global ALPL gene variant classification project: Dedicated to deciphering variants

Farman, M. R., Rehder, C., Malli, T., Rockman-Greenberg, C., Dahir, K., Martos-Moreno, G. Á., Linglart, A., Ozono, K., Seefried, L., del Angel, G., et al. (2024) · Bone

Alkaline Phosphatase Research StudiesGenomics and Rare Diseases

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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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Thyroid dysfunction in patients with Down syndrome: results from a multi-institutional registry study.

Lavigne, J., Sharr, C., Elsharkawi, I., Ozonoff, A., Baumer, N., Brasington, C., Cannon, S., Crissman, B., Davidson, E., Florez, J. C., et al. (2017) · American Journal of Medical Genetics Part A

Down syndrome and intellectual disability researchThyroid Disorders and Treatments

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Correction of Biochemical Abnormalities and Improved Muscle Function in a Phase I/II Clinical Trial of Clenbuterol in Pompe Disease

Koeberl, D. D., Case, L. E., Smith, E. C., Walters, C., Han, S.-O., Li, Y., Chen, W., Hornik, C. P., Huffman, K. M., Kraus, W. E., et al. (2018) · Molecular Therapy

Lysosomal Storage Disorders ResearchGlycogen Storage Diseases and Myoclonus

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