Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Sarah Risen"'
Autor:
Francesco Miceli, Charissa Millevert, Maria Virginia Soldovieri, Ilaria Mosca, Paolo Ambrosino, Lidia Carotenuto, Dewi Schrader, Hyun Kyung Lee, James Riviello, William Hong, Sarah Risen, Lisa Emrick, Hitha Amin, Dorothée Ville, Patrick Edery, Julitta de Bellescize, Vincent Michaud, Julien Van-Gils, Cyril Goizet, Marjolein H. Willemsen, Tjitske Kleefstra, Rikke S Møller, Allan Bayat, Orrin Devinsky, Tristan Sands, G. Christoph Korenke, Gerhard Kluger, Heather C. Mefford, Eva Brilstra, Gaetan Lesca, Mathieu Milh, Edward C. Cooper, Maurizio Taglialatela, Sarah Weckhuysen
Publikováno v:
EBioMedicine, Vol 81, Iss , Pp 104130- (2022)
Summary: Background: Prior studies have revealed remarkable phenotypic heterogeneity in KCNQ2-related disorders, correlated with effects on biophysical features of heterologously expressed channels. Here, we assessed phenotypes and functional propert
Externí odkaz:
https://doaj.org/article/27289a7516ba4ba9b422fb966fcb4594
Autor:
Andres Jimenez-Gomez, Sizhe Niu, Fabiola Andujar-Perez, Elizabeth A. McQuade, Alfred Balasa, David Huss, Rohini Coorg, Michael Quach, Sherry Vinson, Sarah Risen, J. Lloyd Holder
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 11, Iss 1, Pp 1-11 (2019)
Abstract Background The SYNGAP1 gene encodes for a small GTPase-regulating protein critical to dendritic spine maturation and synaptic plasticity. Mutations have recently been identified to cause a breadth of neurodevelopmental disorders including au
Externí odkaz:
https://doaj.org/article/d29d30dba3904027806924ab1879cc4e
Autor:
Laura A. Malone, Amanda Morrow, Yuxi Chen, Donna Curtis, Sarah D. de Ferranti, Monika Desai, Talya K. Fleming, Therese M. Giglia, Trevor A. Hall, Ellen Henning, Sneha Jadhav, Alicia M. Johnston, Dona Rani C. Kathirithamby, Christina Kokorelis, Catherine Lachenauer, Lilun Li, Henry C. Lin, Tran Locke, Carol MacArthur, Michelle Mann, Sharon A. McGrath‐Morrow, Rowena Ng, Laurie Ohlms, Sarah Risen, S. Christy Sadreameli, Sarah Sampsel, S. Kristen Sexson Tejtel, Julie K. Silver, Tregony Simoneau, Rasha Srouji, Sanjeev Swami, Souraya Torbey, Monica Verduzco Gutierrez, Cydni Nicole Williams, Lori Allison Zimmerman, Louise Elaine Vaz
Publikováno v:
PM&R. 14:1241-1269
Autor:
Alexander Ankar, Jonathan Yarimi, Meagan Newell, Varun Kannan, Daniel Davila-Williams, Nikita Shukla, Sarah Risen
Publikováno v:
Wednesday, April 26.
Autor:
Cydni N, Williams, Trevor A, Hall, Conall, Francoeur, Jonathan, Kurz, Lindsey, Rasmussen, Mary E, Hartman, Am Iqbal, O'meara, Nikki Miller, Ferguson, Ericka L, Fink, Tracie, Walker, Kurt, Drury, Jessica L, Carpenter, Jennifer, Erklauer, Craig, Press, Mark S, Wainwright, Marlina, Lovett, Heda, Dapul, Sarah, Murphy, Sarah, Risen, Rejean M, Guerriero, Alan, Woodruff, Kristin P, Guilliams
Publikováno v:
Hosp Pediatr
OBJECTIVES Survivors of the PICU face long-term morbidities across health domains. In this study, we detail active PICU follow-up programs (PFUPs) and identify perceptions and barriers about development and maintenance of PFUPs. METHODS A web link to
Autor:
Varun Kannan, Sarah Risen
Publikováno v:
Journal of Pediatric Neurology. 20:351-354
The full range of neurological manifestations of novel coronavirus (severe acute respiratory syndrome coronavirus 2 [SARS-CoV-2]) infection in children remains incompletely characterized. Here, we discussed a 7-year-old male child patient with sickle
Publikováno v:
Pediatrics
A 16-month-old, previously healthy male is hospitalized for new onset seizures. Initial investigation is significant for enterovirus/rhinovirus respiratory infection, abnormal T2 signal predominantly in the white matter and scattered microhemorrhages
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfb2951048024dfb2825102c32b4fc2f
https://europepmc.org/articles/PMC10026691/
https://europepmc.org/articles/PMC10026691/
Publikováno v:
Neurology. 100:S230-S231
A 15-year-old healthy, active girl presented with acute bilateral upper extremity tingling and hand weakness while playing golf; within several hours, she developed numbness and weakness in all limbs. She denied preceding trauma and bowel/bladder inc
Publikováno v:
Pediatric Neurology
Background The objective of this study was to describe the case literature of human coronavirus infections in the nervous system of children, including from SARS-CoV-2, and to provide guidance to pediatric providers for managing the potential long-te
Autor:
Gunes Orman, Stephen F. Kralik, Thierry A.G.M. Huisman, Avner Meoded, Sarah Risen, Nilesh K. Desai
Publikováno v:
Journal of Neuroimaging. 30:15-27
Trauma is the most common cause of death and significant morbidity in childhood; abusive head trauma (AHT) is a prominent cause of significant morbidity and mortality in children younger than 2 years old. Correctly diagnosing AHT is challenging both