Suchergebnisse - Cynthia J. Tifft

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  1. 1
    The National Institutes of Health undiagnosed diseases program

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

    Veröffentlicht 2014
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  2. 2
    The GM2 gangliosidoses: Unlocking the mysteries of pathogenesis and treatment

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

    Veröffentlicht 2021
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  3. 3
    Microglial activation precedes acute neurodegeneration in Sandhoff disease and is suppressed by bone marrow transplantation

    Microglial activation precedes acute neurodegeneration in Sandhoff disease and is suppressed by bone marrow transplantation von Ryuichi Wada, Cynthia J. Tifft, Richard L. Proia

    Veröffentlicht 2000
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  4. 4
    A perilous path: the inborn errors of sphingolipid metabolism

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

    Veröffentlicht 2019
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  5. 5
    Editorial: Role of neuroimaging in the diagnosis and treatment of rare diseases

    Editorial: Role of neuroimaging in the diagnosis and treatment of rare diseases von Mohammed Salman Shazeeb, Maria T. Acosta, Cynthia J. Tifft

    Veröffentlicht 2025
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  6. 6
    The natural history of Type 1 infantile GM1 gangliosidosis: A literature-based meta-analysis

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

    Veröffentlicht 2019
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  7. 7
    Natural History of Infantile GM2 Gangliosidosis

    Natural History of Infantile GM2 Gangliosidosis von Annette Bley, Ourania Giannikopoulos, Doug Hayden, Kim Kubilus, Cynthia J. Tifft, Florian Eichler

    Veröffentlicht 2011
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  8. 8
    Late-onset GM2 gangliosidosis: magnetic resonance imaging, diffusion tensor imaging, and correlational fiber tractography differentiate Tay–Sachs and Sandhoff diseases

    Late-onset GM2 gangliosidosis: magnetic resonance imaging, diffusion tensor imaging, and correlational fiber tractography differentiate Tay–Sachs and Sandhoff diseases von Connor Lewis, Selby I. Chipman, Jean M. Johnston, Maria T. Acosta, Camilo Toro, Cynthia J. Tifft

    Veröffentlicht 2025
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  9. 9
    GM1 Gangliosidosis—A Mini-Review

    GM1 Gangliosidosis—A Mini-Review von Elena‐Raluca Nicoli, Ida Annunziata, Alessandra d’Azzo, Frances M. Platt, Cynthia J. Tifft, Karolina M. Stępień

    Veröffentlicht 2021
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  10. 10
    Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors

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

    Veröffentlicht 2015
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  11. 11
    The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine

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

    Veröffentlicht 2016
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  12. 12
    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 von Yvonne L. Latour, Robin Yoon, Sarah Thomas, Christina Grant, Cuiling Li, Miguel Sena‐Esteves, María L. Allende, Richard L. Proia, Cynthia J. Tifft

    Veröffentlicht 2019
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  13. 13
    Retrospective assessment of clinical global impression of severity and change in GM1 gangliosidosis: a tool to score natural history data in rare disease cohorts

    Retrospective assessment of clinical global impression of severity and change in GM1 gangliosidosis: a tool to score natural history data in rare disease cohorts von Connor Lewis, Jean M. Johnston, Sílvia Zaragoza Domingo, Gilbert Vézina, Precilla D’Souza, William A. Gahl, David H. Adams, Cynthia J. Tifft, Maria T. Acosta

    Veröffentlicht 2025
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  14. 14
    Enhanced survival in Sandhoff disease mice receiving a combination of substrate deprivation therapy and bone marrow transplantation

    Enhanced survival in Sandhoff disease mice receiving a combination of substrate deprivation therapy and bone marrow transplantation von Mylvaganam Jeyakumar, Francine Norflus, Cynthia J. Tifft, Mario Cortina‐Borja, Terry D. Butters, Richard L. Proia, V. Hugh Perry, Raymond A. Dwek, Frances M. Platt

    Veröffentlicht 2001
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  15. 15
    Cerebral organoids derived from Sandhoff disease-induced pluripotent stem cells exhibit impaired neurodifferentiation

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

    Veröffentlicht 2018
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  16. 16
    Detecting false-positive signals in exome sequencing

    Detecting false-positive signals in exome sequencing von Karin V. Fuentes Fajardo, David R. Adams, Christopher E. Mason, Murat Sincan, Cynthia J. Tifft, Camilo Toro, Cornelius F. Boerkoel, William A. Gahl, Thomas C. Markello

    Veröffentlicht 2012
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  17. 17
    Safety and efficacy of alternative alglucosidase alfa regimens in Pompe disease

    Safety and efficacy of alternative alglucosidase alfa regimens in Pompe disease von Laura E. Case, Carl Bjartmar, Claire Morgan, Robin Casey, Joel Charrow, John Clancy, Majed Dasouki, Stephanie DeArmey, Khan Nedd, Mary Nevins, Heidi Peters, Dawn Phillips, Zachary Spigelman, Cynthia J. Tifft, Priya S. Kishnani

    Veröffentlicht 2014
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  18. 18
    Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of<i>SLC12A2</i>

    Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of<i>SLC12A2</i> von Ellen F. Macnamara, Alanna E. Koehler, Precilla D’Souza, Tyra Estwick, Paul Lee, Gilbert Vézina, Harper B Fauni, Stephen R. Braddock, Erin Torti, James Holt, Prashant Sharma, May Christine V. Malicdan, Cynthia J. Tifft

    Veröffentlicht 2019
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  19. 19
    A Case for Automated Segmentation of MRI Data in Neurodegenerative Diseases: Type II GM1 Gangliosidosis

    A Case for Automated Segmentation of MRI Data in Neurodegenerative Diseases: Type II GM1 Gangliosidosis von Connor Lewis, Jean M. Johnston, Precilla D’Souza, Josephine Kolstad, Christopher Zoppo, Zeynep Vardar, Anna Luisa Kühn, Ahmet Peker, Zubir Rentiya, Muhammad Yousef, William A. Gahl, Mohammed Salman Shazeeb, Cynthia J. Tifft, Maria T. Acosta

    Veröffentlicht 2025
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  20. 20
    Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta

    Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta von Wayne A. Cabral, Weizhong Chang, Aileen M. Barnes, MaryAnn Weis, Melissa A. Scott, Sergey Leikin, Elena Makareeva, Natalia V. Kuznetsova, Kenneth N. Rosenbaum, Cynthia J. Tifft, Dorothy Bulas, Chahira Kozma, Peter A. Smith, David R. Eyre, Joan C. Marini

    Veröffentlicht 2007
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