Ngā hua rapu - Cynthia J. Tifft

Whakamahine hua
  1. 1
    The National Institutes of Health undiagnosed diseases program

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

    I whakaputaina 2014
    Whiwhi kuputuhi katoa
    Revisão
    Tiaki ki tētahi rārangi
    I tiakina i:
  2. 2
    The GM2 gangliosidoses: Unlocking the mysteries of pathogenesis and treatment

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

    I whakaputaina 2021
    Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  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 mā Ryuichi Wada, Cynthia J. Tifft, Richard L. Proia

    I whakaputaina 2000
    Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  4. 4
    A perilous path: the inborn errors of sphingolipid metabolism

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

    I whakaputaina 2019
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Revisão
    Tiaki ki tētahi rārangi
    I tiakina i:
  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 mā Mohammed Salman Shazeeb, Maria T. Acosta, Cynthia J. Tifft

    I whakaputaina 2025
    Whiwhi kuputuhi katoa
    Editorial
    Tiaki ki tētahi rārangi
    I tiakina i:
  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 mā Frederick Lang, Paul Körner, Mark Harnett, Ajith Karunakara, Cynthia J. Tifft

    I whakaputaina 2019
    Whiwhi kuputuhi katoa
    Revisão
    Tiaki ki tētahi rārangi
    I tiakina i:
  7. 7
    Natural History of Infantile GM2 Gangliosidosis

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

    I whakaputaina 2011
    Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  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 mā Connor Lewis, Selby I. Chipman, Jean M. Johnston, Maria T. Acosta, Camilo Toro, Cynthia J. Tifft

    I whakaputaina 2025
    Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  9. 9
    GM1 Gangliosidosis—A Mini-Review

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

    I whakaputaina 2021
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Revisão
    Tiaki ki tētahi rārangi
    I tiakina i:
  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 mā Bobby G. Ng, Lynne A. Wolfe, Mie Ichikawa, Thomas C. Markello, Miao He, Cynthia J. Tifft, W. A. Gahl, Hudson H. Freeze

    I whakaputaina 2015
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  11. 11
    The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine

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

    I whakaputaina 2016
    Whiwhi kuputuhi katoa
    Carta
    Tiaki ki tētahi rārangi
    I tiakina i:
  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 mā Yvonne L. Latour, Robin Yoon, Sarah Thomas, Christina Grant, Cuiling Li, Miguel Sena‐Esteves, María L. Allende, Richard L. Proia, Cynthia J. Tifft

    I whakaputaina 2019
    Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  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 mā 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

    I whakaputaina 2025
    Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  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 mā 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

    I whakaputaina 2001
    Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  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 mā 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

    I whakaputaina 2018
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  16. 16
    Detecting false-positive signals in exome sequencing

    Detecting false-positive signals in exome sequencing mā 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

    I whakaputaina 2012
    Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  17. 17
    Safety and efficacy of alternative alglucosidase alfa regimens in Pompe disease

    Safety and efficacy of alternative alglucosidase alfa regimens in Pompe disease mā 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

    I whakaputaina 2014
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  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> mā 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

    I whakaputaina 2019
    Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  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 mā 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

    I whakaputaina 2025
    Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:
  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 mā 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

    I whakaputaina 2007
    Whiwhi kuputuhi katoa
    Artigo
    Tiaki ki tētahi rārangi
    I tiakina i:

Ngā utauta rapu: