N-Acetyl-l-Leucine and Neurodegenerative Disease von Tifft, Cynthia J.

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The GM2 gangliosidoses: Unlocking the mysteries of pathogenesis and treatment von Toro, Camilo, Zainab, Mosufa, Tifft, Cynthia J.

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A perilous path: the inborn errors of sphingolipid metabolism von Dunn, Teresa M., Tifft, Cynthia J., Proia, Richard L.

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Lysosomal storage diseases von Platt, Frances M., d’Azzo, Alessandra, Davidson, Beverly L., Neufeld, Elizabeth F., Tifft, Cynthia J.

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The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine von Gahl, William A., Mulvihill, John J., Toro, Camilo, Markello, Thomas C., Wise, Anastasia L., Ramoni, Rachel B., Adams, David R., Tifft, Cynthia J.

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Cerebral organoids derived from Sandhoff disease-induced pluripotent stem cells exhibit impaired neurodifferentiation[S] von Allende, Maria L., Cook, Emily K., Larman, Bridget C., Nugent, Adrienne, Brady, Jacqueline M., Golebiowski, Diane, Sena-Esteves, Miguel, Tifft, Cynthia J., Proia, Richard L.

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The natural history of Type 1 infantile GM1 gangliosidosis: A literature-based meta-analysis von Lang, Frederick M., Korner, Paul, Harnett, Mark, Karunakara, Ajith, Tifft, Cynthia J.

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Reactivation of mTOR signaling slows neurodegeneration in a lysosomal sphingolipid storage disease von Zhu, Hongling, Lee, Y. Terry, Byrnes, Colleen, Angina, Jabili, Springer, Danielle A., Tuymetova, Galina, Kono, Mari, Tifft, Cynthia J., Proia, Richard L.

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The NIH Undiagnosed Diseases Program: Lessons Learned von Gahl, William A, Tifft, Cynthia J

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GM1 Gangliosidosis-A Mini-Review von Nicoli, Elena-Raluca, Annunziata, Ida, d'Azzo, Alessandra, Platt, Frances M, Tifft, Cynthia J, Stepien, Karolina M

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Thrombotic microangiopathy following systemic AAV administration is dependent on anti-capsid antibodies von Salabarria, Stephanie M, Corti, Manuela, Coleman, Kirsten E, Wichman, Megan B, Berthy, Julie A, D'Souza, Precilla, Tifft, Cynthia J, Herzog, Roland W, Elder, Melissa E, Shoemaker, Lawrence R, Leon-Astudillo, Carmen, Tavakkoli, Fatemeh, Kirn, David H, Schwartz, Jonathan D, Byrne, Barry J

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AAV gene therapy for Tay-Sachs disease von Flotte, Terence R., Cataltepe, Oguz, Puri, Ajit, Batista, Ana Rita, Moser, Richard, McKenna-Yasek, Diane, Douthwright, Catherine, Gernoux, Gwladys, Blackwood, Meghan, Mueller, Christian, Tai, Phillip W. L., Jiang, Xuntian, Bateman, Scot, Spanakis, Spiro G., Parzych, Julia, Keeler, Allison M., Abayazeed, Aly, Rohatgi, Saurabh, Gibson, Laura, Finberg, Robert, Barton, Bruce A., Vardar, Zeynep, Shazeeb, Mohammed Salman, Gounis, Matthew, Tifft, Cynthia J., Eichler, Florian S., Brown, Robert H., Martin, Douglas R., Gray-Edwards, Heather L., Sena-Esteves, Miguel

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A feasibility study of mHealth and wearable technology in late onset GM2 gangliosidosis (Tay-Sachs and Sandhoff Disease) von Davies, Elin Haf, Johnston, Jean, Toro, Camilo, Tifft, Cynthia J

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Sialidase NEU3 action on GM1 ganglioside is neuroprotective in GM1 Gangliosidosis von Allende, Maria L., Lee, Y. Terry, Byrnes, Colleen, Li, Cuiling, Tumetova, Galina, Bakir, Jenna Y., Nicoli, Elena-Raluca, James, Virginia K., Brodbelt, Jennifer S., Tifft, Cynthia J., Proia, Richard L.

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Complex effects on CaV2.1 channel gating caused by a CACNA1A variant associated with a severe neurodevelopmental disorder von Grosso, Benjamin J., Kramer, Audra A., Tyagi, Sidharth, Bennett, Daniel F., Tifft, Cynthia J., D’Souza, Precilla, Wangler, Michael F., Macnamara, Ellen F., Meza, Ulises, Bannister, Roger A.

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The National Institutes of Health undiagnosed diseases program von Tifft, Cynthia J, Adams, David R

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Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors von Ng, Bobby G, Wolfe, Lynne A, Ichikawa, Mie, Markello, Thomas, He, Miao, Tifft, Cynthia J, Gahl, William A, Freeze, Hudson H

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A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation von Ferreira, Carlos R., Xia, Zhi-Jie, Clément, Aurélie, Parry, David A., Davids, Mariska, Taylan, Fulya, Sharma, Prashant, Turgeon, Coleman T., Blanco-Sánchez, Bernardo, Ng, Bobby G., Logan, Clare V., Wolfe, Lynne A., Solomon, Benjamin D., Cho, Megan T., Douglas, Ganka, Carvalho, Daniel R., Bratke, Heiko, Haug, Marte Gjøl, Phillips, Jennifer B., Wegner, Jeremy, Tiemeyer, Michael, Aoki, Kazuhiro, Nordgren, Ann, Hammarsjö, Anna, Duker, Angela L., Rohena, Luis, Hove, Hanne Buciek, Ek, Jakob, Adams, David, Tifft, Cynthia J., Onyekweli, Tito, Weixel, Tara, Macnamara, Ellen, Radtke, Kelly, Powis, Zöe, Earl, Dawn, Gabriel, Melissa, Russi, Alvaro H. Serrano, Brick, Lauren, Kozenko, Mariya, Tham, Emma, Raymond, Kimiyo M., Phillips, John A., Tiller, George E., Wilson, William G., Hamid, Rizwan, Malicdan, May C.V., Nishimura, Gen, Grigelioniene, Giedre, Jackson, Andrew, Westerfield, Monte, Bober, Michael B., Gahl, William A., Freeze, Hudson H.

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Gene expression changes in Tay–Sachs disease begin early in fetal brain development von Han, Sangwoo T., Hirt, Ashley, Nicoli, Elena‐Raluca, Kono, Mari, Toro, Camilo, Proia, Richard L., Tifft, Cynthia J.

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Human GLB1 knockout cerebral organoids: A model system for testing AAV9-mediated GLB1 gene therapy for reducing GM1 ganglioside storage in GM1 gangliosidosis von Latour, Yvonne L., Yoon, Robin, Thomas, Sarah E., Grant, Christina, Li, Cuiling, Sena-Esteves, Miguel, Allende, Maria L., Proia, Richard L., Tifft, Cynthia J.

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