Zobrazeno 1 - 10
of 881
pro vyhledávání: '"S. Rafii"'
Autor:
Jonathan D. Santoro, Mellad M. Khoshnood, Saba Jafarpour, Lina Nguyen, Natalie K. Boyd, Benjamin N. Vogel, Ryan Kammeyer, Lina Patel, Melanie A. Manning, Angela L. Rachubinski, Robyn A. Filipink, Nicole T. Baumer, Stephanie L. Santoro, Catherine Franklin, Benita Tamrazi, Kristen W. Yeom, Gordon Worley, Joaquin M. Espinosa, Michael S. Rafii
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 4, Pp 1034-1045 (2024)
Abstract Objective To determine the prevalence of neuroimaging abnormalities in individuals with Down syndrome regression disorder (DSRD) and evaluate if neuroimaging abnormalities were predictive of therapeutic responses. Methods A multicenter, retr
Externí odkaz:
https://doaj.org/article/1b84b6540fc14bc19651701e6c60b706
Autor:
Laura Xicota, Lam-Ha T. Dang, Alice Lee, Sharon Krinsky-McHale, Deborah Pang, Lisa Melilli, Sid O'Bryant, Rachel L. Henson, Charles Laymon, Florence Lai, H. Diana Rosas, Beau Ances, Ira Lott, Christy Hom, Bradley Christian, Sigan Hartley, Shahid Zaman, Elizabeth Head, Mark Mapstone, Zhezhen Jin, Wayne Silverman, Nicole Schupf, Benjamin Handen, Joseph H. Lee, Howard J. Aizenstein, Beau M. Ances, Howard F. Andrews, Karen Bell, Rasmus Birn, Adam M. Brickman, Peter Bulova, Amrita Cheema, Kewei Chen, Bradley T. Christian, Isabel Clare, Lorraine Clark, Ann D. Cohen, John N. Constantino, Eric W. Doran, Anne Fagan, Eleanor Feingold, Tatiana M. Foroud, Benjamin L. Handen, Jordan Harp, Sigan L. Hartley, Rachel Henson, Lawrence Honig, Milos D. Ikonomovic, Sterling C. Johnson, Courtney Jordan, M.Ilyas Kamboh, David Keator, William E. Klunk, Julia K. Kofler, William Charles Kreisl, Sharon J. Krinsky-McHale, Patrick Lao, Ira T. Lott, Victoria Lupson, Chester A. Mathis, Davneet Singh Minhas, Neelesh Nadkarni, Sid O’Bryant, Melisa Parisi, Melissa Pettersen, Julie C. Price, Margaret Pulsifer, Michael S. Rafii, Eric Reiman, Batool Rizvi, Laurie Ryan, Frederick Schmitt, Wayne P. Silverman, Dana L. Tudorascu, Rameshwari Tumuluru, Benjamin Tycko, Badri Varadarajan, Desiree A. White, Michael A. Yassa, Fan Zhang
Publikováno v:
EBioMedicine, Vol 110, Iss , Pp 105433- (2024)
Summary: Background: Individuals with Down syndrome (DS) are at high risk of early-onset Alzheimer's disease (AD); yet, some 20 percent do not develop any signs of dementia until after 65 years or in their lifetime. Mosaicism could contribute to this
Externí odkaz:
https://doaj.org/article/7bcbc45f9a5e40b7ab0502504ef1c084
Publikováno v:
Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring, Vol 16, Iss 2, Pp n/a-n/a (2024)
Abstract Down syndrome (DS) is caused by a third copy of chromosome 21. Alzheimer's disease (AD) is a neurodegenerative condition characterized by the deposition of amyloid‐beta (Aβ) plaques and neurofibrillary tangles in the brain. Both disorders
Externí odkaz:
https://doaj.org/article/e2979a9115524f1284113504fb8de4e0
Autor:
Natalie K. Boyd, Julia Nguyen, Mellad M. Khoshnood, Timothy Jiang, Lina Nguyen, Lorena Mendez, Noemi A. Spinazzi, Melanie A. Manning, Michael S. Rafii, Jonathan D. Santoro
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 15, Iss 1, Pp 1-10 (2023)
Abstract Background Plasma levels of vitamin D have been reported to be low in persons with Down syndrome (DS) and existing data is limited to small and homogenous cohorts. This is of particular importance in persons with DS given the high rates of a
Externí odkaz:
https://doaj.org/article/91a0dc18d8984955bc8d3db0868bb451
Autor:
Jonathan D. Santoro, Noemi A. Spinazzi, Robyn A. Filipink, Panteha Hayati-Rezvan, Ryan Kammeyer, Lina Patel, Elise A. Sannar, Luke Dwyer, Abhik K. Banerjee, Mellad Khoshnood, Saba Jafarpour, Natalie K. Boyd, Rebecca Partridge, Grace Y. Gombolay, Alison L. Christy, Diego Real de Asua, Maria del Carmen Ortega, Melanie A. Manning, Heather Van Mater, Gordan Worley, Cathy Franklin, Maria A. Stanley, Ruth Brown, George T. Capone, Eileen A. Quinn, Michael S. Rafii
Publikováno v:
Translational Psychiatry, Vol 13, Iss 1, Pp 1-11 (2023)
Abstract Down syndrome regression disorder (DSRD) is a clinical symptom cluster consisting of neuropsychiatric regression without an identifiable cause. This study evaluated the clinical effectiveness of IVIg and evaluated clinical characteristics as
Externí odkaz:
https://doaj.org/article/7e9281de584d4011887c454ae04c7609
Autor:
Jonathan D. Santoro, Rebecca Partridge, Runi Tanna, Dania Pagarkar, Mellad Khoshnood, Mustafa Rehmani, Ryan M. Kammeyer, Grace Y. Gombolay, Kristen Fisher, Allison Conravey, Jane El-Dahr, Alison L. Christy, Lina Patel, Melanie A. Manning, Heather Van Mater, Michael S. Rafii, Eileen A. Quinn
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 14, Iss 1, Pp 1-14 (2022)
Abstract Background Down syndrome regression disorder is a symptom cluster consisting of neuropsychiatric regression without cause. This study evaluated the incidence of neurodiagnostic abnormalities in individuals with Down syndrome regression disor
Externí odkaz:
https://doaj.org/article/458c788b54d54e3fb7224516398055fc
Autor:
Dobri Baldaranov, Victoria Garcia, Garrett Miller, Michael C. Donohue, Leslie M. Shaw, Mike Weiner, Ronald C. Petersen, Paul Aisen, Rema Raman, Michael S. Rafii
Publikováno v:
Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring, Vol 15, Iss 2, Pp n/a-n/a (2023)
Abstract Introduction Lumbar puncture (LP) to collect and examine cerebrospinal fluid (CSF) is an important option for the evaluation of Alzheimer's disease (AD) biomarkers but it is not routinely performed due to its invasiveness and link to adverse
Externí odkaz:
https://doaj.org/article/f8f18a67a92643938edfbff9b80860fc
Autor:
Nicole T. Baumer, Mara L. Becker, George T. Capone, Kathleen Egan, Juan Fortea, Benjamin L. Handen, Elizabeth Head, James E. Hendrix, Ruth Y. Litovsky, Andre Strydom, Ignacio E. Tapia, Michael S. Rafii
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 14, Iss 1, Pp 1-9 (2022)
Abstract The recent National Institute of Health (NIH) INCLUDE (INvestigation of Co-occurring conditions across the Lifespan to Understand Down syndromE) initiative has bolstered capacity for the current increase in clinical trials involving individu
Externí odkaz:
https://doaj.org/article/5a1db19275d74e129d5e2fe30faf7670
Autor:
Jonathan D. Santoro, Lina Patel, Ryan Kammeyer, Robyn A. Filipink, Grace Y. Gombolay, Kathleen M. Cardinale, Diego Real de Asua, Shahid Zaman, Stephanie L. Santoro, Sammer M. Marzouk, Mellad Khoshnood, Benjamin N. Vogel, Runi Tanna, Dania Pagarkar, Sofia Dhanani, Maria del Carmen Ortega, Rebecca Partridge, Maria A. Stanley, Jessica S. Sanders, Alison Christy, Elise M. Sannar, Ruth Brown, Andrew A. McCormick, Heather Van Mater, Cathy Franklin, Gordon Worley, Eileen A. Quinn, George T. Capone, Brian Chicoine, Brian G. Skotko, Michael S. Rafii
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
ObjectiveTo develop standardization for nomenclature, diagnostic work up and diagnostic criteria for cases of neurocognitive regression in Down syndrome.BackgroundThere are no consensus criteria for the evaluation or diagnosis of neurocognitive regre
Externí odkaz:
https://doaj.org/article/0a2a1b67edf44dcfb3dd349681f80d02
Autor:
Jonathan D. Santoro, Sarah Lee, Anthony C. Wang, Eugenia Ho, Deepti Nagesh, Mellad Khoshnood, Runi Tanna, Ramon A. Durazo-Arvizu, Melanie A. Manning, Brian G. Skotko, Gary K. Steinberg, Michael S. Rafii
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Objective: To determine if elevated rates of autoimmune disease are present in children with both Down syndrome and moyamoya disease given the high rates of autoimmune disease reported in both conditions and unknown etiology of angiopathy in this pop
Externí odkaz:
https://doaj.org/article/c15c318ee05549ff85f8286982e6a105