Lysosomal storage diseases
Platt, Frances M., d’Azzo, Alessandra, Davidson, Beverly L., Neufeld, Elizabeth F., Tifft, Cynthia J.
Published in Nature reviews. Disease primers (01.10.2018)
Published in Nature reviews. Disease primers (01.10.2018)
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A perilous path: the inborn errors of sphingolipid metabolism
Dunn, Teresa M., Tifft, Cynthia J., Proia, Richard L.
Published in Journal of lipid research (01.03.2019)
Published in Journal of lipid research (01.03.2019)
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Journal Article
The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine
Gahl, William A., Mulvihill, John J., Toro, Camilo, Markello, Thomas C., Wise, Anastasia L., Ramoni, Rachel B., Adams, David R., Tifft, Cynthia J.
Published in Molecular genetics and metabolism (01.04.2016)
Published in Molecular genetics and metabolism (01.04.2016)
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Journal Article
Cerebral organoids derived from Sandhoff disease-induced pluripotent stem cells exhibit impaired neurodifferentiation[S]
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.
Published in Journal of lipid research (01.03.2018)
Published in Journal of lipid research (01.03.2018)
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Journal Article
The NIH Undiagnosed Diseases Program: Lessons Learned
Gahl, William A, Tifft, Cynthia J
Published in JAMA : the journal of the American Medical Association (11.05.2011)
Published in JAMA : the journal of the American Medical Association (11.05.2011)
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Journal Article
GM1 Gangliosidosis-A Mini-Review
Nicoli, Elena-Raluca, Annunziata, Ida, d'Azzo, Alessandra, Platt, Frances M, Tifft, Cynthia J, Stepien, Karolina M
Published in Frontiers in genetics (03.09.2021)
Published in Frontiers in genetics (03.09.2021)
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Journal Article
Thrombotic microangiopathy following systemic AAV administration is dependent on anti-capsid antibodies
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
Published in The Journal of clinical investigation (01.01.2024)
Published in The Journal of clinical investigation (01.01.2024)
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Journal Article
AAV gene therapy for Tay-Sachs disease
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
Published in Nature medicine (01.02.2022)
Published in Nature medicine (01.02.2022)
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Journal Article
Sialidase NEU3 action on GM1 ganglioside is neuroprotective in GM1 Gangliosidosis
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.
Published in Journal of lipid research (01.12.2023)
Published in Journal of lipid research (01.12.2023)
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Journal Article
Complex effects on CaV2.1 channel gating caused by a CACNA1A variant associated with a severe neurodevelopmental disorder
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.
Published in Scientific reports (02.06.2022)
Published in Scientific reports (02.06.2022)
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Journal Article
Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)
Minatogawa, Mari, Unzaki, Ai, Morisaki, Hiroko, Syx, Delfien, Sonoda, Tohru, Janecke, Andreas R, Slavotinek, Anne, Voermans, Nicol C, Lacassie, Yves, Mendoza-Londono, Roberto, Wierenga, Klaas J, Jayakar, Parul, Gahl, William A, Tifft, Cynthia J, Figuera, Luis E, Hilhorst-Hofstee, Yvonne, Maugeri, Alessandra, Ishikawa, Ken, Kobayashi, Tomoko, Aoki, Yoko, Ohura, Toshihiro, Kawame, Hiroshi, Kono, Michihiro, Mochida, Kosuke, Tokorodani, Chiho, Kikkawa, Kiyoshi, Morisaki, Takayuki, Kobayashi, Tetsuyuki, Nakane, Takaya, Kubo, Akiharu, Ranells, Judith D, Migita, Ohsuke, Sobey, Glenda, Kaur, Anupriya, Ishikawa, Masumi, Yamaguchi, Tomomi, Matsumoto, Naomichi, Malfait, Fransiska, Miyake, Noriko, Kosho, Tomoki
Published in Journal of medical genetics (01.09.2022)
Published in Journal of medical genetics (01.09.2022)
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Journal Article
The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases
Gahl, William A., Markello, Thomas C., Toro, Camilo, Fajardo, Karin Fuentes, Sincan, Murat, Gill, Fred, Carlson-Donohoe, Hannah, Gropman, Andrea, Pierson, Tyler Mark, Golas, Gretchen, Wolfe, Lynne, Groden, Catherine, Godfrey, Rena, Nehrebecky, Michele, Wahl, Colleen, Landis, Dennis M.D., Yang, Sandra, Madeo, Anne, Mullikin, James C., Boerkoel, Cornelius F., Tifft, Cynthia J., Adams, David
Published in Genetics in medicine (2012)
Published in Genetics in medicine (2012)
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Journal Article
Gene-based therapeutics for rare genetic neurodevelopmental psychiatric disorders
Davidson, Beverly L., Gao, Guangping, Berry-Kravis, Elizabeth, Bradbury, Allison M., Bönnemann, Carsten, Buxbaum, Joseph D., Corcoran, Gavin R., Gray, Steven J., Gray-Edwards, Heather, Kleiman, Robin J., Shaywitz, Adam J., Wang, Dan, Zoghbi, Huda Y., Flotte, Terence R., Tauscher-Wisniewski, Sitra, Tifft, Cynthia J., Sahin, Mustafa
Published in Molecular therapy (06.07.2022)
Published in Molecular therapy (06.07.2022)
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