Zobrazeno 1 - 10
of 1 666
pro vyhledávání: '"L. Silverman"'
Autor:
R. Rai, F. Patel, J. Feld, S. Melana, S. Navada, R. Odchimar-Reissig, E. Demakos, E. P. Reddy, A. Horowitz, L. Silverman
Publikováno v:
HemaSphere, Vol 6, Pp 641-642 (2022)
Externí odkaz:
https://doaj.org/article/2fa42e11ea4f4c868ad9febfaf014a3e
Autor:
L. Gore, M. Loh, C.-H. Pui, Y. Matloub, M. J. Hanley, J. Du, M. Hennessy, M. Granier, A. Biondi, L. Silverman
Publikováno v:
HemaSphere, Vol 6, Pp 1644-1645 (2022)
Externí odkaz:
https://doaj.org/article/e627603f09a743b19762c64dd679be78
Autor:
Timothy A. Fenton, Olivia Y. Haouchine, Elizabeth B. Hallam, Emily M. Smith, Kiya C. Jackson, Darlene Rahbarian, Cesar P. Canales, Anna Adhikari, Alex S. Nord, Roy Ben-Shalom, Jill L. Silverman
Publikováno v:
Translational Psychiatry, Vol 14, Iss 1, Pp 1-11 (2024)
Abstract Disruption of SYNGAP1 directly causes a genetically identifiable neurodevelopmental disorder (NDD) called SYNGAP1-related intellectual disability (SRID). Without functional SynGAP1 protein, individuals are developmentally delayed and have pr
Externí odkaz:
https://doaj.org/article/342ace3d29f742d2bb545fc65e6bb4f1
Autor:
Lyndsey L. Anderson, Declan Everett‐Morgan, Stela P. Petkova, Jill L. Silverman, Jonathon C. Arnold
Publikováno v:
Epilepsia Open, Vol 8, Iss 3, Pp 776-784 (2023)
Abstract Objective Ictal vocalizations have shown diagnostic utility in epilepsy patients. Audio recordings of seizures have also been used for seizure detection. The present study aimed to determine whether generalized tonic–clonic seizures in the
Externí odkaz:
https://doaj.org/article/3b46039d8e3f4a42952067a969b9cd7f
Autor:
Ulrika Beitnere, Brayan Vilanova-Cuevas, Sarah G. Christian, Clint Taylor, Elizabeth L. Berg, Nycole A. Copping, Scott V. Dindot, Jill L. Silverman, Mélanie G. Gareau, David J. Segal
Publikováno v:
mSystems, Vol 8, Iss 1 (2023)
ABSTRACT A large subset of patients with Angelman syndrome (AS) suffer from concurrent gastrointestinal (GI) issues, including constipation, poor feeding, and reflux. AS is caused by the loss of ubiquitin ligase E3A (UBE3A) gene expression in the bra
Externí odkaz:
https://doaj.org/article/603c826aee6f48c298a9ce88f28aaa34
Autor:
Bing Zhang, Anna L. Silverman, Saroja Bangaru, Douglas Arneson, Sonya Dasharathy, Nghia Nguyen, Diane Rodden, Jonathan Shih, Atul J. Butte, Wael Noor El-Nachef, Brigid S. Boland, Vivek Ashok Rudrapatna
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-10 (2021)
Abstract Acid suppressants are widely-used classes of medications linked to increased risks of aerodigestive infections. Prior studies of these medications as potentially reversible risk factors for COVID-19 have been conflicting. We aimed to determi
Externí odkaz:
https://doaj.org/article/ef826fc5309143bbaa192a8b5408c632
Autor:
Elizabeth L. Berg, Stela P. Petkova, Heather A. Born, Anna Adhikari, Anne E. Anderson, Jill L. Silverman
Publikováno v:
Molecular Autism, Vol 12, Iss 1, Pp 1-16 (2021)
Abstract Background Angelman Syndrome (AS) is a rare neurodevelopmental disorder for which there is currently no cure or effective therapeutic. Since the genetic cause of AS is known to be dysfunctional expression of the maternal allele of ubiquitin
Externí odkaz:
https://doaj.org/article/248aa6f6f0a749df873e2e42f60659e7
Autor:
Jessica L. Haigh, Anna Adhikari, Nycole A. Copping, Tyler Stradleigh, A. Ayanna Wade, Rinaldo Catta-Preta, Linda Su-Feher, Iva Zdilar, Sarah Morse, Timothy A. Fenton, Anh Nguyen, Diana Quintero, Samrawit Agezew, Michael Sramek, Ellie J. Kreun, Jasmine Carter, Andrea Gompers, Jason T. Lambert, Cesar P. Canales, Len A. Pennacchio, Axel Visel, Diane E. Dickel, Jill L. Silverman, Alex S. Nord
Publikováno v:
Genome Medicine, Vol 13, Iss 1, Pp 1-22 (2021)
Abstract Background Genes with multiple co-active promoters appear common in brain, yet little is known about functional requirements for these potentially redundant genomic regulatory elements. SCN1A, which encodes the NaV1.1 sodium channel alpha su
Externí odkaz:
https://doaj.org/article/78fe0a2d5b104a109781adedaf6df4e5
Autor:
J. Ellegood, S. P. Petkova, A. Kinman, L. R. Qiu, A. Adhikari, A. A. Wade, D. Fernandes, Z. Lindenmaier, A. Creighton, L. M. J. Nutter, A. S. Nord, J. L. Silverman, J. P. Lerch
Publikováno v:
Molecular Autism, Vol 12, Iss 1, Pp 1-24 (2021)
Abstract Background One of the causal mechanisms underlying neurodevelopmental disorders (NDDs) is chromatin modification and the genes that regulate chromatin. AT-rich interactive domain 1B (ARID1B), a chromatin modifier, has been linked to autism s
Externí odkaz:
https://doaj.org/article/0fe323d806e84f1b82cf980dfb9bea70
Autor:
N. A. Copping, J. L. Silverman
Publikováno v:
Molecular Autism, Vol 12, Iss 1, Pp 1-14 (2021)
Abstract Background Angelman Syndrome (AS) is a rare genetic disorder characterized by impaired communication, motor and balance deficits, intellectual disabilities, recurring seizures and abnormal sleep patterns. The genetic cause of AS is neuronal-
Externí odkaz:
https://doaj.org/article/e34adbd63e9f40558c3993735d19a2c1