Risultati della ricerca - Cynthia J. Tifft

Raffina i risultati
  1. 1
    The National Institutes of Health undiagnosed diseases program

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

    Pubblicazione 2014
    Testo
    Revisão
    Aggiungi alla lista
    Salvato in:
  2. 2
    The GM2 gangliosidoses: Unlocking the mysteries of pathogenesis and treatment

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

    Pubblicazione 2021
    Testo
    Artigo
    Aggiungi alla lista
    Salvato in:
  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 di Ryuichi Wada, Cynthia J. Tifft, Richard L. Proia

    Pubblicazione 2000
    Testo
    Artigo
    Aggiungi alla lista
    Salvato in:
  4. 4
    A perilous path: the inborn errors of sphingolipid metabolism

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

    Pubblicazione 2019
    Testo Testo
    Revisão
    Aggiungi alla lista
    Salvato in:
  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 di Mohammed Salman Shazeeb, Maria T. Acosta, Cynthia J. Tifft

    Pubblicazione 2025
    Testo
    Editorial
    Aggiungi alla lista
    Salvato in:
  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 di Frederick Lang, Paul Körner, Mark Harnett, Ajith Karunakara, Cynthia J. Tifft

    Pubblicazione 2019
    Testo
    Revisão
    Aggiungi alla lista
    Salvato in:
  7. 7
    Natural History of Infantile GM2 Gangliosidosis

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

    Pubblicazione 2011
    Testo
    Artigo
    Aggiungi alla lista
    Salvato in:
  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 di Connor Lewis, Selby I. Chipman, Jean M. Johnston, Maria T. Acosta, Camilo Toro, Cynthia J. Tifft

    Pubblicazione 2025
    Testo
    Artigo
    Aggiungi alla lista
    Salvato in:
  9. 9
    GM1 Gangliosidosis—A Mini-Review

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

    Pubblicazione 2021
    Testo Testo
    Revisão
    Aggiungi alla lista
    Salvato in:
  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 di Bobby G. Ng, Lynne A. Wolfe, Mie Ichikawa, Thomas C. Markello, Miao He, Cynthia J. Tifft, W. A. Gahl, Hudson H. Freeze

    Pubblicazione 2015
    Testo Testo
    Artigo
    Aggiungi alla lista
    Salvato in:
  11. 11
    The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine

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

    Pubblicazione 2016
    Testo
    Carta
    Aggiungi alla lista
    Salvato in:
  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 di Yvonne L. Latour, Robin Yoon, Sarah Thomas, Christina Grant, Cuiling Li, Miguel Sena‐Esteves, María L. Allende, Richard L. Proia, Cynthia J. Tifft

    Pubblicazione 2019
    Testo
    Artigo
    Aggiungi alla lista
    Salvato in:
  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 di 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

    Pubblicazione 2025
    Testo
    Artigo
    Aggiungi alla lista
    Salvato in:
  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 di 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

    Pubblicazione 2001
    Testo
    Artigo
    Aggiungi alla lista
    Salvato in:
  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 di 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

    Pubblicazione 2018
    Testo Testo
    Artigo
    Aggiungi alla lista
    Salvato in:
  16. 16
    Detecting false-positive signals in exome sequencing

    Detecting false-positive signals in exome sequencing di 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

    Pubblicazione 2012
    Testo
    Artigo
    Aggiungi alla lista
    Salvato in:
  17. 17
    Safety and efficacy of alternative alglucosidase alfa regimens in Pompe disease

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

    Pubblicazione 2014
    Testo Testo
    Artigo
    Aggiungi alla lista
    Salvato in:
  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> di 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

    Pubblicazione 2019
    Testo
    Artigo
    Aggiungi alla lista
    Salvato in:
  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 di 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

    Pubblicazione 2025
    Testo
    Artigo
    Aggiungi alla lista
    Salvato in:
  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 di 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

    Pubblicazione 2007
    Testo
    Artigo
    Aggiungi alla lista
    Salvato in:

Strumenti per la ricerca: