Novel LMNA mutations in Greek and Myanmar Patients with Progeroid Features and Cardiac Manifestations
Kandhaya-Pillai, Renuka, Hisama, Fuki M., A. Bucks, Stephanie, Yarzar, Soe, Korovou, Haroula, M. Martin, George, Oshima, Junko
Published in Aging Pathobiology and Therapeutics (01.01.2020)
Published in Aging Pathobiology and Therapeutics (01.01.2020)
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NOTCH3 C201R variant causes cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) that can be confused with early-onset Alzheimer's disease
Korvatska, Olena, Bucks, Stephanie A., Yoda, Rebecca A., Nolan, Amber, Dorschner, Michael O., Tsuang, Debby, Jayadev, Suman, Raskind, Wendy H., Bird, Thomas D.
Published in Journal of the neurological sciences (15.09.2023)
Published in Journal of the neurological sciences (15.09.2023)
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A familial missense variant in the Alzheimer’s disease gene SORL1 impairs its maturation and endosomal sorting
Fazeli, Elnaz, Child, Daniel D., Bucks, Stephanie A., Stovarsky, Miki, Edwards, Gabrielle, Rose, Shannon E., Yu, Chang-En, Latimer, Caitlin, Kitago, Yu, Bird, Thomas, Jayadev, Suman, Andersen, Olav M., Young, Jessica E.
Published in Acta neuropathologica (01.06.2024)
Published in Acta neuropathologica (01.06.2024)
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Supporting cells remove and replace sensory receptor hair cells in a balance organ of adult mice
Bucks, Stephanie A, Cox, Brandon C, Vlosich, Brittany A, Manning, James P, Nguyen, Tot B, Stone, Jennifer S
Published in eLife (06.03.2017)
Published in eLife (06.03.2017)
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Alternative splicing in a presenilin 2 variant associated with Alzheimer disease
Braggin, Jacquelyn E., Bucks, Stephanie A., Course, Meredith M., Smith, Carole L., Sopher, Bryce, Osnis, Leah, Shuey, Kiel D., Domoto‐Reilly, Kimiko, Caso, Christina, Kinoshita, Chizuru, Scherpelz, Kathryn P., Cross, Chloe, Grabowski, Thomas, Nik, Seyyed H. M., Newman, Morgan, Garden, Gwenn A., Leverenz, James B., Tsuang, Debby, Latimer, Caitlin, Gonzalez‐Cuyar, Luis F., Keene, Christopher Dirk, Morrison, Richard S., Rhoads, Kristoffer, Wijsman, Ellen M., Dorschner, Michael O., Lardelli, Michael, Young, Jessica E., Valdmanis, Paul N., Bird, Thomas D., Jayadev, Suman
Published in Annals of clinical and translational neurology (01.04.2019)
Published in Annals of clinical and translational neurology (01.04.2019)
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P3‐162: IPSC‐DERIVED CORTICAL NEURONS WITH A NOVEL FRAMESHIFT PSEN2 MUTATION INCREASE THE RATIO OF AGGREGATE PRONE AMYLOID BETA
Braggin, Jacquelyn E., Bucks, Stephanie A., Martinez, Refugio A., Smith, Carole, Sopher, Bryce, Osnis, Leah, Green, Kevin, Tsuang, Debby, Leverenz, James B., Valdmanis, Paul, Dorschner, Michael, Bird, Thomas D., Young, Jessica E., Jayadev, Suman
Published in Alzheimer's & dementia (01.07.2018)
Published in Alzheimer's & dementia (01.07.2018)
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IPSC-DERIVED CORTICAL NEURONS WITH A NOVEL FRAMESHIFT PSEN2 MUTATION INCREASE THE RATIO OF AGGREGATE PRONE AMYLOID BETA
Braggin, Jacquelyn E., Bucks, Stephanie A., Martinez, Refugio A., Smith, Carole, Sopher, Bryce, Osnis, Leah, Green, Kevin, Tsuang, Debby, Leverenz, James B., Valdmanis, Paul, Dorschner, Michael, Bird, Thomas D., Young, Jessica E., Jayadev, Suman
Published in Alzheimer's & dementia (01.07.2018)
Published in Alzheimer's & dementia (01.07.2018)
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Journal Article
A familial missense variant in the Alzheimer's Disease gene SORL1 impairs its maturation and endosomal sorting
Fazeli, Elnaz, Child, Daniel D, Bucks, Stephanie A, Stovarsky, Miki, Edwards, Gabrielle, Rose, Shannon E, Yu, Chang-En, Latimer, Caitlin, Kitago, Yu, Bird, Thomas, Jayadev, Suman, Andersen, Olav M, Young, Jessica E
Published in bioRxiv : the preprint server for biology (13.11.2023)
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Published in bioRxiv : the preprint server for biology (13.11.2023)
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