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

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

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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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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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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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The GM2 gangliosidoses: Unlocking the mysteries of pathogenesis and treatment von Toro, Camilo, Zainab, Mosufa, 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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Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency von Davids, Mariska, Menezes, Minal, Guo, Yiran, McLean, Scott D., Hakonarson, Hakon, Collins, Felicity, Worgan, Lisa, Billington, Charles J., Maric, Irina, Littlejohn, Rebecca Okashah, Onyekweli, Tito, Members of the UDN, Adams, David R., Tifft, Cynthia J., Gahl, William A., Wolfe, Lynne A., Christodoulou, John, Malicdan, May Christine V.

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Microglial Activation Precedes Acute Neurodegeneration in Sandhoff Disease and Is Suppressed by Bone Marrow Transplantation von Wada, Ryuichi, Tifft, Cynthia J., Proia, Richard L.

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Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype von Gartner, Valerie, Markello, Thomas C., Macnamara, Ellen, De Biase, Andrea, Thurm, Audrey, Joseph, Lisa, Beggs, Alan H., Schmahmann, Jeremy D., Berry, Gerard T., Anselm, Irina, Boslet, Emma, Tifft, Cynthia J., Gahl, William A., Lee, Paul R.

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Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patients von Chin, Joseph J., Behnam, Babak, Davids, Mariska, Sharma, Prashant, Zein, Wadih M., Wang, Camille, Chepa-Lotrea, Xenia, Gallantine, William Brian, Toro, Camilo, Adams, David R., Tifft, Cynthia J., Gahl, William A., Malicdan, May Christine V.

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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 Complement Regulator Susd4 Influences Nervous-System Function and Neuronal Morphology in Mice von Zhu, Hongling, Meissner, Laura E., Byrnes, Colleen, Tuymetova, Galina, Tifft, Cynthia J., Proia, Richard L.

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Rapid Identification of New Biomarkers for the Classification of GM1 Type 2 Gangliosidosis Using an Unbiased 1H NMR-Linked Metabolomics Strategy von Percival, Benita C., Latour, Yvonne L., Tifft, Cynthia J., Grootveld, Martin

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Quantitative reliability assessment of brain MRI volumetric measurements in type II GM1 gangliosidosis patients von Zoppo, Christopher, Kolstad, Josephine, Johnston, Jean, D'Souza, Precilla, Kühn, Anna Luisa, Vardar, Zeynep, Peker, Ahmet, Lindsay, Clifford, Rentiya, Zubir S, King, Robert, Gray-Edwards, Heather, Vachha, Behroze, Acosta, Maria T, Tifft, Cynthia J, Shazeeb, Mohammed Salman

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Adults with lysosomal storage diseases in the undiagnosed diseases network von Xiao, Changrui, Koziura, Mary, Cope, Heidi, Spillman, Rebecca, Tan, Khoon, Hisama, Fuki M., Tifft, Cynthia J., Toro, Camilo

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