Hasil Pencarian - Cynthia J Tifft
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A perilous path: the inborn errors of sphingolipid metabolism oleh Teresa M. Dunn, Cynthia J. Tifft, Richard L. Proia
Diterbitkan 2019-03-01
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GM1 Gangliosidosis—A Mini-Review oleh Elena-Raluca Nicoli, Ida Annunziata, Alessandra d’Azzo, Alessandra d’Azzo, Frances M. Platt, Cynthia J. Tifft, Cynthia J. Tifft, Karolina M. Stepien, Karolina M. Stepien
Diterbitkan 2021-09-01
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Myoclonus generators in sialidosis oleh Felipe Vial, Patrick McGurrin, Sanaz Attaripour, Alesandra d'Azzo, Cynthia J. Tifft, Camilo Toro, Mark Hallett
Diterbitkan 2022-01-01
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Adults with lysosomal storage diseases in the undiagnosed diseases network oleh Changrui Xiao, Mary Koziura, Heidi Cope, Rebecca Spillman, Khoon Tan, Fuki M. Hisama, Cynthia J. Tifft, Camilo Toro
Diterbitkan 2022-09-01
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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 oleh Yvonne L. Latour, Robin Yoon, Sarah E. Thomas, Christina Grant, Cuiling Li, Miguel Sena-Esteves, Maria L. Allende, Richard L. Proia, Cynthia J. Tifft
Diterbitkan 2019-12-01
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Cerebral organoids derived from Sandhoff disease-induced pluripotent stem cells exhibit impaired neurodifferentiation[S] oleh Maria L. Allende, Emily K. Cook, Bridget C. Larman, Adrienne Nugent, Jacqueline M. Brady, Diane Golebiowski, Miguel Sena-Esteves, Cynthia J. Tifft, Richard L. Proia
Diterbitkan 2018-03-01
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DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature oleh Laura E. Meissner, Ellen F. Macnamara, Precilla D'Souza, John Yang, Gilbert Vezina, Undiagnosed Diseases Network, Carlos R. Ferreira, Wadih M. Zein, Cynthia J. Tifft, David R. Adams
Diterbitkan 2020-12-01
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Complex effects on CaV2.1 channel gating caused by a CACNA1A variant associated with a severe neurodevelopmental disorder oleh Benjamin J. Grosso, Audra A. Kramer, Sidharth Tyagi, Daniel F. Bennett, Cynthia J. Tifft, Precilla D’Souza, Michael F. Wangler, Ellen F. Macnamara, Ulises Meza, Roger A. Bannister
Diterbitkan 2022-06-01
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Sialidase NEU3 action on GM1 ganglioside is neuroprotective in GM1 gangliosidosis oleh Maria L. Allende, Y. Terry Lee, Colleen Byrnes, Cuiling Li, Galina Tuymetova, Jenna Y. Bakir, Elena-Raluca Nicoli, Virginia K. James, Jennifer S. Brodbelt, Cynthia J. Tifft, Richard L. Proia
Diterbitkan 2023-12-01
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Quantitative reliability assessment of brain MRI volumetric measurements in type II GM1 gangliosidosis patients oleh Christopher Zoppo, Josephine Kolstad, Jean Johnston, Precilla D'Souza, Anna Luisa Kühn, Zeynep Vardar, Ahmet Peker, Clifford Lindsay, Zubir S. Rentiya, Robert King, Heather Gray-Edwards, Behroze Vachha, Behroze Vachha, Maria T. Acosta, Cynthia J. Tifft, Mohammed Salman Shazeeb
Diterbitkan 2024-09-01
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A pentasaccharide for monitoring pharmacodynamic response to gene therapy in GM1 gangliosidosisResearch in context oleh Pamela Kell, Rohini Sidhu, Mingxing Qian, Sonali Mishra, Elena-Raluca Nicoli, Precilla D'Souza, Cynthia J. Tifft, Amanda L. Gross, Heather L. Gray-Edwards, Douglas R. Martin, Miguel Sena- Esteves, Dennis J. Dietzen, Manmilan Singh, Jingqin Luo, Jean E. Schaffer, Daniel S. Ory, Xuntian Jiang
Diterbitkan 2023-06-01
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Deficiency in the endocytic adaptor proteins PHETA1/2 impairs renal and craniofacial development oleh Kristin M. Ates, Tong Wang, Trevor Moreland, Rajalakshmi Veeranan-Karmegam, Manxiu Ma, Chelsi Jeter, Priya Anand, Wolfgang Wenzel, Hyung-Goo Kim, Lynne A. Wolfe, Joshi Stephen, David R. Adams, Thomas Markello, Cynthia J. Tifft, Robert Settlage, William A. Gahl, Graydon B. Gonsalvez, May Christine Malicdan, Heather Flanagan-Steet, Y. Albert Pan
Diterbitkan 2020-05-01
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Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment oleh Marie Morimoto, Vikas Bhambhani, Nour Gazzaz, Mariska Davids, Paalini Sathiyaseelan, Ellen F. Macnamara, Jennifer Lange, Anna Lehman, Patricia M. Zerfas, Jennifer L. Murphy, Maria T. Acosta, Camille Wang, Emily Alderman, Undiagnosed Diseases Network, Sara Reichert, Audrey Thurm, David R. Adams, Wendy J. Introne, Sharon M. Gorski, Cornelius F. Boerkoel, William A. Gahl, Cynthia J. Tifft, May Christine V. Malicdan
Diterbitkan 2023-02-01
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yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development. oleh Bernardo Blanco-Sánchez, Aurélie Clément, Sara J Stednitz, Jennifer Kyle, Judy L Peirce, Marcie McFadden, Jeremy Wegner, Jennifer B Phillips, Ellen Macnamara, Yan Huang, David R Adams, Camilo Toro, William A Gahl, May Christine V Malicdan, Cynthia J Tifft, Erika M Zink, Kent J Bloodsworth, Kelly G Stratton, Undiagnosed Diseases Network, David M Koeller, Thomas O Metz, Philip Washbourne, Monte Westerfield
Diterbitkan 2020-06-01
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Correction: yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development. oleh Bernardo Blanco-Sánchez, Aurélie Clément, Sarah J Stednitz, Jennifer Kyle, Judy L Peirce, Marcie McFadden, Jeremy Wegner, Jennifer B Phillips, Ellen Macnamara, Yan Huang, David R Adams, Camilo Toro, William A Gahl, May Christine V Malicdan, Cynthia J Tifft, Erika M Zink, Kent J Bloodsworth, Kelly G Stratton, Undiagnosed Diseases Network, David M Koeller, Thomas O Metz, Philip Washbourne, Monte Westerfield
Diterbitkan 2020-10-01
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Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience oleh Timothy Gall, Timothy Gall, Elise Valkanas, Christofer Bello, Thomas Markello, Christopher Adams, William P. Bone, Alexander J. Brandt, Jennifer M. Brazill, Lynn Carmichael, Mariska Davids, Joie Davis, Zoraida Diaz-Perez, David Draper, David Draper, Jeremy Elson, Elise D. Flynn, Rena Godfrey, Catherine Groden, Cheng-Kang Hsieh, Roxanne Fischer, Gretchen A. Golas, Jessica Guzman, Yan Huang, Megan S. Kane, Elizabeth Lee, Chong Li, Amanda E. Links, Valerie Maduro, May Christine V. Malicdan, Fayeza S. Malik, Michele Nehrebecky, Joun Park, Paul Pemberton, Katherine Schaffer, Dimitre Simeonov, Murat Sincan, Damian Smedley, Zaheer Valivullah, Colleen Wahl, Nicole Washington, Lynne A. Wolfe, Lynne A. Wolfe, Karen Xu, Yi Zhu, William A. Gahl, William A. Gahl, Cynthia J. Tifft, Cynthia J. Tifft, Camillo Toro, David R. Adams, David R. Adams, Miao He, Miao He, Peter N. Robinson, Melissa A. Haendel, R. Grace Zhai, Cornelius F. Boerkoel
Diterbitkan 2017-05-01
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