Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Lindsay C Swanson"'
Autor:
Joni N. Saby, Sarika U. Peters, Timothy A. Benke, Shannon M. Standridge, Lindsay C. Swanson, David N. Lieberman, Heather E. Olson, Alexandra P. Key, Alan K. Percy, Jeffrey L. Neul, Charles A. Nelson, Timothy P. L. Roberts, Eric D. Marsh
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 15, Iss 1, Pp 1-12 (2023)
Abstract Background Developing biomarkers is a priority for drug development for all conditions, but vital in the rare neurodevelopmental disorders where sensitive outcome measures are lacking. We have previously demonstrated the feasibility and trac
Externí odkaz:
https://doaj.org/article/46442d60ccba4276b6deb5e39df9c848
Autor:
Heather E. Olson, Carolyn I. Daniels, Isabel Haviland, Lindsay C. Swanson, Caitlin A. Greene, Anne Marie M. Denny, Scott T. Demarest, Elia Pestana-Knight, Xiaoming Zhang, Ahsan N. Moosa, Andrea Fidell, Judith L. Weisenberg, Bernhard Suter, Cary Fu, Jeffrey L. Neul, Alan K. Percy, Eric D. Marsh, Timothy A. Benke, Annapurna Poduri
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 13, Iss 1, Pp 1-11 (2021)
Abstract Background CDKL5 deficiency disorder (CDD) is associated with refractory infantile onset epilepsy, global developmental delay, and variable features that include sleep, behavioral disturbances, and movement disorders. Current treatment is pr
Externí odkaz:
https://doaj.org/article/b2a404d8a1fc4c57b3365dbe6a876c7d
Autor:
Stephanie A. Zlatic, Duc Duong, Kamal K.E. Gadalla, Brenda Murage, Lingyan Ping, Ruth Shah, James J. Fink, Omar Khwaja, Lindsay C. Swanson, Mustafa Sahin, Sruti Rayaprolu, Prateek Kumar, Srikant Rangaraju, Adrian Bird, Daniel Tarquinio, Randall Carpenter, Stuart Cobb, Victor Faundez
Publikováno v:
iScience, Vol 25, Iss 9, Pp 104966- (2022)
Summary: MECP2 loss-of-function mutations cause Rett syndrome, a neurodevelopmental disorder resulting from a disrupted brain transcriptome. How these transcriptional defects are decoded into a disease proteome remains unknown. We studied the proteom
Externí odkaz:
https://doaj.org/article/3dab4af82ddd47d782dbe33e5cc615d1
Autor:
Siddharth Srivastava, Angelica D’Amore, Julie S. Cohen, Lindsay C. Swanson, Ivana Ricca, Antonella Pini, Ali Fatemi, Darius Ebrahimi‐Fakhari, Filippo M. Santorelli
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 4, Pp 573-578 (2020)
Abstract ERLIN2‐related disorders are rare conditions of the motor system and clinical details are limited to a small number of prior descriptions. We here presented clinical and genetic details in five individuals (four different families) where t
Externí odkaz:
https://doaj.org/article/5e578e6b88534943875397040f482203
Autor:
Pin-Fang Chen, Teresa Chen, Taylor E. Forman, Amanda C. Swanson, Benjamin O'Kelly, Sean A. Dwyer, Elizabeth D. Buttermore, Robin Kleiman, Sheridan JS Carrington, Daniel J. Lavery, Lindsay C. Swanson, Heather E. Olson, Mustafa Sahin
Publikováno v:
Stem Cell Research, Vol 53, Iss , Pp 102276- (2021)
CDKL5 Deficiency Disorder (CDD) is a rare X-linked monogenic developmental encephalopathy that is estimated to affect 1:42,000 live births. CDD is caused by pathogenic variants in the CDKL5 gene and is observed in both male and female patients. Here,
Externí odkaz:
https://doaj.org/article/6d50af65e720459594556a6b25493963
Autor:
Isabel Haviland, Carolyn I. Daniels, Caitlin A. Greene, Jacqueline Drew, Jamie A. Love-Nichols, Lindsay C. Swanson, Lacey Smith, Duyu A. Nie, Timothy Benke, Beth R. Sheidley, Bo Zhang, Annapurna Poduri, Heather E. Olson
Publikováno v:
Pediatr Neurol
BACKGROUND: Evidence of the impact of genetic diagnosis on medical management in individuals with previously unexplained epilepsy is lacking in the literature. Our goal was to determine the impact of genetic diagnosis on medical management in a cohor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efedb1231b201a8b6045974859623b17
https://doi.org/10.1016/j.pediatrneurol.2022.10.006
https://doi.org/10.1016/j.pediatrneurol.2022.10.006
Autor:
Siddharth Srivastava, Erica L. Macke, Lindsay C. Swanson, David Coulter, Eric W. Klee, Sureni V. Mullegama, Yili Xie, Brendan C. Lanpher, Emma C. Bedoukian, Cara M. Skraban, Laurent Villard, Mathieu Milh, Mary L. O. Leppert, Julie S. Cohen
Publikováno v:
Brain Sciences, Vol 11, Iss 7, p 931 (2021)
In humans, de novo truncating variants in WASF1 (Wiskott–Aldrich syndrome protein family member 1) have been linked to presentations of moderate-to-profound intellectual disability (ID), autistic features, and epilepsy. Apart from one case series,
Externí odkaz:
https://doaj.org/article/cd8e4dea5b2c48d282be6765b4691c22
Autor:
Alma Kuechler, Amanda Openshaw, Stephen P. Robertson, Siddharth Srivastava, Bo Hong, Leah R Fleming, Cheryl Dickerson, Lindsay C. Swanson, Kathryn Curry, Rami A. Ballout, Najla Al-Sweel, Myra J. Wick, Nuria C. Bramswig, Ayman W. El-Hattab, Erica F. Andersen
Publikováno v:
Hum Mutat
Int22h1/Int22h2-mediated Xq28 duplication syndrome is a relatively new X-linked intellectual disability syndrome, arising from duplications of the subregion flanked by intron 22 homologous regions 1 and 2 on the q arm of chromosome X. Its primary man
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e0be034c3119b8ef59945e2af31da28
https://doi.org/10.1002/humu.24009
https://doi.org/10.1002/humu.24009
Autor:
Joni N Saby, Patrick J Mulcahey, Alexis E Zavez, Sarika U Peters, Shannon M Standridge, Lindsay C Swanson, David N Lieberman, Heather E Olson, Alexandra P Key, Alan K Percy, Jeffrey L Neul, Charles A Nelson, Timothy P L Roberts, Timothy A Benke, Eric D Marsh
Publikováno v:
Brain communications. 4(4)
CDKL5 deficiency disorder is a debilitating developmental and epileptic encephalopathy for which no targeted treatment exists. A number of promising therapeutics are under development for CDKL5 deficiency disorder but a lack of validated biomarkers o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e11e4d90cff914162e9de1bc0d08b122
https://pubmed.ncbi.nlm.nih.gov/35974796
https://pubmed.ncbi.nlm.nih.gov/35974796
Autor:
Mustafa Sahin, Srikant Rangaraju, Ruth Shah, Brenda Murage, Stuart Cobb, Prateek Kumar, Sruti Rayaprolu, Lindsay C. Swanson, Omar Khwaja, Victor Faundez, Kamal Ke Gadalla, Adrian Bird, Lingyan Ping, Daniel C. Tarquinio, Duc M. Duong, Stephanie A. Zlatic
MECP2 loss-of-function mutations cause Rett syndrome, a disorder that results from a disrupted brain transcriptome. How these transcriptional defects are decoded into a disease proteome remains unknown. We studied the proteome in Rett syndrome cerebr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7b0e562af9454e794223b441a81055d2
https://doi.org/10.1101/2021.11.30.470580
https://doi.org/10.1101/2021.11.30.470580
