Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Kelli C. Paulsen"'
Autor:
Justin Abe, Saba Jafarpour, My H. Vu, Devon O'Brien, Natalie K. Boyd, Benjamin N. Vogel, Lina Nguyen, Kelli C. Paulsen, Laura E. Saucier, Nusrat Ahsan, Wendy G. Mitchell, Jonathan D. Santoro
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
BackgroundPediatric onset multiple sclerosis (POMS) commonly occurs at the time of various endocrine changes. Evaluation of the impact of endocrine status on disease severity in POMS has not been previously explored.ObjectiveThis study sought to eval
Externí odkaz:
https://doaj.org/article/8402c230302b46e2976372928fbab3a4
Autor:
Saba Jafarpour, Abhik Banerjee, Natalie K. Boyd, Benjamin N. Vogel, Kelli C. Paulsen, Nusrat Ahsan, Wendy G. Mitchell, Shafali S. Jeste, Jonathan D. Santoro
Publikováno v:
Journal of Neurology. 269:6512-6529
There is a gap in the literature regarding genetic underpinnings of pediatric autoimmune CNS diseases. This study explored rare gene variants implicated in immune dysregulation within these disorders.This was a single-center observational study of ch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7340c309b31d1b52afa8e0fa43ef44c5
https://doi.org/10.1007/s00415-022-11325-2
https://doi.org/10.1007/s00415-022-11325-2
Publikováno v:
Pediatric Neurology. 131:20-22
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08af76876fbb0687fbd951a9e5b861c6
https://doi.org/10.1016/j.pediatrneurol.2022.04.001
https://doi.org/10.1016/j.pediatrneurol.2022.04.001
Autor:
Dania Pagarkar, Michael S. Rafii, Kelli C. Paulsen, Mattia Rosso, Jonathan D. Santoro, Duong Chu, Pat Levitt
Publikováno v:
Journal of Neurology. 268:4495-4509
Down syndrome (DS) is one of the most well-recognized genetic disorders. Persons with DS are known to have a variety of co-morbid medical problems, affecting nearly all organ systems. Improved healthcare interventions and research have allowed for in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::da0a7256d49c7938cd826f6669ffbb33
https://doi.org/10.1007/s00415-020-10179-w
https://doi.org/10.1007/s00415-020-10179-w
Autor:
Kelli C. Paulsen, Jonathan D. Santoro
Publikováno v:
JAMA Neurol
This study details a case of biotinidase deficiency mimicking neuromyelitis optica spectrum disorders and reviews prior cases of biotinidase deficiency that met Wingerchuck 2015 criteria for neuromyelitis optica spectrum disorder.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0af1e577452c17c8a6313d2d57695278
https://europepmc.org/articles/PMC7536621/
https://europepmc.org/articles/PMC7536621/
Autor:
Jonathan D, Santoro, Dania, Pagarkar, Duong T, Chu, Mattia, Rosso, Kelli C, Paulsen, Pat, Levitt, Michael S, Rafii
Publikováno v:
Journal of neurology. 268(12)
Down syndrome (DS) is one of the most well-recognized genetic disorders. Persons with DS are known to have a variety of co-morbid medical problems, affecting nearly all organ systems. Improved healthcare interventions and research have allowed for in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d3eaf2e835790d5284dcdb5dae18b347
https://pubmed.ncbi.nlm.nih.gov/32920658
https://pubmed.ncbi.nlm.nih.gov/32920658
Publikováno v:
BMJ Case Reports
Down syndrome (DS) and Marfan syndrome (MFS) are two unique genetic disorders that share limited phenotypic overlap. There are very few reported cases in the existing literature on overlapping DS and MFS. Although these two disorders are phenotypical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60a15df0a7aace3e6bf33512d0ddc6e0
https://doi.org/10.1136/bcr-2020-235988
https://doi.org/10.1136/bcr-2020-235988