Zobrazeno 1 - 10
of 36
pro vyhledávání: '"Jessica A Panzer"'
Autor:
Yuanquan Song, Jason R Willer, Paul C Scherer, Jessica A Panzer, Amy Kugath, Emmanuel Skordalakes, Ronald G Gregg, Gregory B Willer, Rita J Balice-Gordon
Publikováno v:
PLoS ONE, Vol 5, Iss 10, p e13743 (2010)
Congenital disorder of glycosylation type IIc (CDG IIc) is characterized by mental retardation, slowed growth and severe immunodeficiency, attributed to the lack of fucosylated glycoproteins. While impaired Notch signaling has been implicated in some
Externí odkaz:
https://doaj.org/article/bf92e3045b0d493d91f711d1cbc89c42
Autor:
Yuanquan Song, Mary A Selak, Corey T Watson, Christopher Coutts, Paul C Scherer, Jessica A Panzer, Sarah Gibbs, Marion O Scott, Gregory Willer, Ronald G Gregg, Declan W Ali, Michael J Bennett, Rita J Balice-Gordon
Publikováno v:
PLoS ONE, Vol 4, Iss 12, p e8329 (2009)
In humans, mutations in electron transfer flavoprotein (ETF) or electron transfer flavoprotein dehydrogenase (ETFDH) lead to MADD/glutaric aciduria type II, an autosomal recessively inherited disorder characterized by a broad spectrum of devastating
Externí odkaz:
https://doaj.org/article/55359c39e9ca49cea285c1631d908dbe
Autor:
Miriam I. Rosenberg, Erez Greenstein, Martin Buchkovich, Ayelet Peres, Eric Santoni-Rugiu, Lei Yang, Martin Mikl, Zalman Vaksman, David L. Gibbs, Dan Reshef, Amy Salovin, Meredith S. Irwin, Arlene Naranjo, Igor Ulitsky, Pedro A. de Alarcon, Katherine K. Matthay, Victor Weigman, Gur Yaari, Jessica A. Panzer, Nir Friedman, John M. Maris
Publikováno v:
Cell Reports, Vol 42, Iss 8, Pp 112879- (2023)
Summary: Neuroblastoma is a lethal childhood solid tumor of developing peripheral nerves. Two percent of children with neuroblastoma develop opsoclonus myoclonus ataxia syndrome (OMAS), a paraneoplastic disease characterized by cerebellar and brainst
Externí odkaz:
https://doaj.org/article/506516905d124cd99326d2bc5f05f4f1
Autor:
Pamela A. Shaw, Jennifer McGuire, MacKenzie J. Edmonson, Brenda Banwell, David M. Barrett, David T. Teachey, Stephan A. Grupp, Jessica A. Panzer, Simon F. Lacey, Jacqueline S. Gofshteyn, Fang Chen, Shannon L. Maude, J. Joseph Melenhorst
Publikováno v:
Annals of Neurology. 84:537-546
OBJECTIVE To characterize the incidence and clinical characteristics of neurotoxicity in the month following CTL019 infusion in children and young adults, to define the relationship between neurotoxicity and cytokine release syndrome (CRS), and to id
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6db0288342d76ed9dab39ab2461600e1
https://doi.org/10.1002/ana.25315
https://doi.org/10.1002/ana.25315
Autor:
Payal Patel, Jessica A. Panzer, Brian Harding, Grant T. Liu, Ahmara G. Ross, Fredrick M. Henretig
Publikováno v:
Neurology. 90:524-529
A 12-year-old girl presented to the emergency department with headaches for 1 week in the setting of a 20-pound weight gain over the last year. Headaches were described as severe, throbbing, constant, and occipital, with photophobia, nausea, and vomi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a48f0053537b11110ece21dd0e60f2e
https://doi.org/10.1212/wnl.0000000000005116
https://doi.org/10.1212/wnl.0000000000005116
Autor:
Julie R. Park, Sheena C. Tenney, Katherine K. Matthay, Wendy B. London, Michael D. Hogarty, Jessica A. Panzer, Pedro A. de Alarcon, Arlene Naranjo, Susan L. Cohn, John M. Maris
Publikováno v:
The lancet child & adolescent health
Summary Background No clinical trial has been done for patients with neuroblastoma-associated opsoclonus myoclonus ataxia syndrome (OMA) and existing treatment is based on case reports and small retrospective studies. We aimed to assess OMA response
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c126c42dd7231527f8e51c075331233
https://doi.org/10.1016/s2352-4642(17)30130-x
https://doi.org/10.1016/s2352-4642(17)30130-x
Autor:
David R, Lynch, Amy, Rattelle, Yi Na, Dong, Kylie, Roslin, Amy J, Gleichman, Jessica A, Panzer
Publikováno v:
Advances in pharmacology (San Diego, Calif.). 82
In slightly more than 10 years, anti-NMDA receptor (NMDAR) encephalitis has changed from a rare paraneoplastic syndrome to the most common cause of nonviral encephalitis. It presents fulminantly with progressive psychosis, seizures, and autonomic dys
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4f986fc369fdce8330b889586ddb99d0
https://pubmed.ncbi.nlm.nih.gov/29413523
https://pubmed.ncbi.nlm.nih.gov/29413523
Autor:
Paula Morris, Rani Sachdev, Kevin Ying, Rebecca Macintosh, Kerith-Rae Dias, Holly Dubbs, Jiang Tao, Amy M. Breman, Mark J. Cowley, Oana Caluseriu, Laura M McDonell, Oksana Suchowersky, Li Wang, Berivan Baskin, Tony Roscioli, Elizabeth E. Palmer, Vincenzo A. Gennarino, Carolyn J. Adamski, Ann M. E. Bye, Chun-An Chen, Jessica A. Panzer, Michael Cardamone, Jianrong Tang, Huda Y. Zoghbi, Marcel E. Dinger, Ying Zhu, Edwin P. Kirk, Amanda Koire, J. Lloyd Holder, Megan T. Cho, Lindsay B. Henderson, Ute Moog, Lauren See, Kym M. Boycott, Tejaswi Kandula, Pawel Stankiewicz, Jill A. Rosenfeld, Shuang Hao, Olivier Lichtarge, Christian P. Schaaf, Arran McBride
Publikováno v:
Epilepsy Currents
A Mild PUM1 Mutation Is Associated With Adult-Onset Ataxia, Whereas Haploinsufficiency Causes Developmental Delay and Seizures Gennarino VA, Palmer EE, McDonell LM, et al. Cell. 2018;172(5):924-936.e11. doi:10.1016/j.cell.2018.02.006. Certain mutatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd0243e6571b7b879b3870a5a81bc46c
https://hdl.handle.net/10453/128125
https://hdl.handle.net/10453/128125
First proposed > 45 years ago, excitotoxicity has been implicated as a primary and secondary cause of cell death in both acute and chronic neuronal degeneration. Excitotoxicity is a pathophysiological mechanism in which excess excitation of the neuro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0f529c95f4fa613ec12457fe79b43e8b
https://doi.org/10.1016/b978-0-12-801238-3.65836-1
https://doi.org/10.1016/b978-0-12-801238-3.65836-1
In slightly more than 10 years, anti-NMDA receptor (NMDAR) encephalitis has changed from a rare paraneoplastic syndrome to the most common cause of nonviral encephalitis. It presents fulminantly with progressive psychosis, seizures, and autonomic dys
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5c075547fb0b090161b58326f729f155
https://doi.org/10.1016/bs.apha.2017.08.005
https://doi.org/10.1016/bs.apha.2017.08.005