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

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Reactivation of mTOR signaling slows neurodegeneration in a lysosomal sphingolipid storage disease by Hongling Zhu, Y. Terry Lee, Colleen Byrnes, Jabili Angina, Danielle A. Springer, Galina Tuymetova, Mari Kono, Cynthia J. Tifft, Richard L. Proia

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Mitochondrial trifunctional protein deficiency caused by a deep intronic deletion leading to aberrant splicing by Thomas Cassini, Sarah Silverstein, Molly Behan, Cynthia J. Tifft, May Christine Malicdan, David R. Adams, Undiagnosed Diseases Network, Sun‐Young Ahn, Debra S. Regier

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

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BK channel activity in skin fibroblasts from patients with neurological disorder by Ria L. Dinsdale, Thomas R. Middendorf, Deborah Disilvestre, David Adams, William Gahl, Ellen F. Macnamara, Lynne Wolfe, Camilo Toro, Cynthia J. Tifft, Andrea L. Meredith

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

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