Hasil Pencarian - Cynthia J Tifft

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  1. 1
    A perilous path: the inborn errors of sphingolipid metabolism

    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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  2. 2
    A feasibility study of mHealth and wearable technology in late onset GM2 gangliosidosis (Tay-Sachs and Sandhoff Disease)

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

    Diterbitkan 2020-08-01
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  3. 3
    Rapid Identification of New Biomarkers for the Classification of GM1 Type 2 Gangliosidosis Using an Unbiased <sup>1</sup>H NMR-Linked Metabolomics Strategy

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

    Diterbitkan 2021-03-01
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  4. 4
    GM1 Gangliosidosis—A Mini-Review

    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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  5. 5
    The Complement Regulator Susd4 Influences Nervous-System Function and Neuronal Morphology in Mice

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

    Diterbitkan 2020-03-01
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  6. 6
    Myoclonus generators in sialidosis

    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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  7. 7
    Adults with lysosomal storage diseases in the undiagnosed diseases network

    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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  8. 8
    Human GLB1 knockout cerebral organoids: A model system for testing AAV9-mediated GLB1 gene therapy for reducing GM1 ganglioside storage in GM1 gangliosidosis

    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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  9. 9
    Cerebral organoids derived from Sandhoff disease-induced pluripotent stem cells exhibit impaired neurodifferentiation[S]

    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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  10. 10
    DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature

    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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  11. 11
    Complex effects on CaV2.1 channel gating caused by a CACNA1A variant associated with a severe neurodevelopmental disorder

    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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  12. 12
    Sialidase NEU3 action on GM1 ganglioside is neuroprotective in GM1 gangliosidosis

    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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  13. 13
    Quantitative reliability assessment of brain MRI volumetric measurements in type II GM1 gangliosidosis patients

    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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  14. 14
    A pentasaccharide for monitoring pharmacodynamic response to gene therapy in GM1 gangliosidosisResearch in context

    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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  15. 15
    Deficiency in the endocytic adaptor proteins PHETA1/2 impairs renal and craniofacial development

    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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  16. 16
    Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

    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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  17. 17
    yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development.

    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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  18. 18
    Correction: yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development.

    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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  19. 19
    Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience

    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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