Author
National Institutes of HealthORCID 0000-0002-3917-9031Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
4 papers
Recent·Most cited
Connor J. Lewis, Selby I. Chipman, Jean M. Johnston…·Cynthia J. Tifft
This study uses diffusion tensor imaging and correlational fiber tractography to show neurobiological differences between Tay-Sachs and Sandhoff diseases, with greater cerebellar pathology in Tay-Sachs patients.
Bruce Nmezi, Guillermo Rodríguez Bey, Talia DeFrancesco Oranburg…·Quasar Saleem Padiath
The paper identifies a silencer element lost in ADLD patients that specifically targets oligodendrocyte overexpression of LMNB1, linking it to disease pathogenesis.
María Gabriela Otero, Jaemin Kim, Yogesh K. Kushwaha…·Tyler Mark Pierson
The paper develops CLN6 patient-derived iPSC models to study neurodegeneration, finding significant lysosomal and synaptic pathway changes in differentiated neurons.
Andreea Manole, Zane Jaunmuktane, Iain Parry Hargreaves…·Henry Houlden
This study identifies RFVT gene mutations in BVVLS, shows mitochondrial dysfunction, and demonstrates therapeutic potential with riboflavin esters.