Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Julia L. Bassell"'
Autor:
Erica Werner, David A. Lewis, Carrie E. Bearden, Meghan E. Wynne, Nicholas T. Seyfried, Zhexing Wen, Nicole Shearing, Oluwaseun B. Ogunbona, Avanti Gokhale, Julia L. Bassell, Duc M. Duong, Jill R. Glausier, Matthew J. M. Rowan, Chongchong Xu, Viktor János Oláh, Amanda A. H. Freeman, Chelsea E. Lee, Stephanie A. Zlatic, Cortnie Hartwig, Victor Faundez
Publikováno v:
The Journal of neuroscience : the official journal of the Society for Neuroscience, vol 41, iss 31
J Neurosci
J Neurosci
Eukaryotic cells maintain proteostasis through mechanisms that require cytoplasmic and mitochondrial translation. Genetic defects affecting cytoplasmic translation perturb synapse development, neurotransmission, and are causative of neurodevelopmenta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dddc35451c70ec74bb2ad9520ec41bbb
https://doi.org/10.1523/jneurosci.2197-20.2021
https://doi.org/10.1523/jneurosci.2197-20.2021
Autor:
Carrie E. Bearden, Erica Werner, Nicole Shearing, Cortnie Hartwig, Avanti Gokhale, Meghan E. Wynne, Zhexing Wen, David A. Lewis, Chelsea E. Lee, Oluwaseun B. Ogunbona, Julia L. Bassell, Stephanie A. Zlatic, Nicholas T. Seyfried, Jill R. Glausier, Faundez, Freeman Aah, Chongchong Xu
Eukaryotic cells maintain proteostasis through mechanisms that require cytoplasmic and mitochondrial translation. Genetic defects affecting cytoplasmic translation perturb synapse development, neurotransmission, and are causative of neurodevelopmenta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b0066d8e2a4e84c96b191d98fea13cd
Publikováno v:
BMJ Case Rep
Diabetic ketoacidosis (DKA) is a serious complication of type 1 diabetes mellitus (T1DM) and can be complicated by injury of the central nervous system (CNS). The most common CNS injury in DKA is cerebral oedema, diagnosed clinically in approximately
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ddc916f76b7ab4b067f542ceb1aee161
https://doi.org/10.1136/bcr-2021-241690
https://doi.org/10.1136/bcr-2021-241690
Autor:
Zhexing Wen, Farida Abudulai, Amanda A. H. Freeman, Jennifer K. Forsyth, Carrie E. Bearden, Christie Sapp, Stephanie A. Zlatic, Nicholas T. Seyfried, Cortnie Hartwig, David A. Lewis, Amanda Crocker, Erica Werner, Gabriela M. Repetto, Jill Gausier, Avanti Gokhale, Trishna Vadlamudi, Julia L. Bassell, Joseph A. Gogos, Victor Faundez, Steven M. Claypool
Neurodevelopmental disorders offer insight into synaptic mechanisms. To unbiasedly uncover these mechanisms, we studied the 22q11.2 syndrome, a recurrent copy number variant, which is the highest schizophrenia genetic risk factor. We quantified the p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f25090286e38515ad3d68f0da2c4d82
Publikováno v:
American Journal of Medical Genetics Part A. 167:1830-1835
Down syndrome (DS) is the most common genetic cause of intellectual disability and results from an extra chromosome 21 (Trisomy 21). Sleep issues and/or obstructive sleep apnea (OSA) are assumed to be part of the DS phenotype with a high prevalence b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6578e41824276656f55d2a9060d71eaa
https://doi.org/10.1002/ajmg.a.37096
https://doi.org/10.1002/ajmg.a.37096
Autor:
Trishna Vadlamudi, Nicholas T. Seyfried, Victor Faundez, Farida Abudulai, David A. Lewis, Jill Gausier, Joseph A. Gogos, Steven M. Claypool, Carrie E. Bearden, Jennifer K. Forsyth, Gabriela M. Repetto, Christie Sapp, Amanda Crocker, Julia L. Bassell, Cortnie Hartwig, Stephanie A. Zlatic, Zhexing Wen, Amanda A. H. Freeman, Erica Werner, Avanti Gokhale
Publikováno v:
The Journal of neuroscience : the official journal of the Society for Neuroscience, vol 39, iss 18
Neurodevelopmental disorders offer insight into synaptic mechanisms. To unbiasedly uncover these mechanisms, we studied the 22q11.2 syndrome, a recurrent copy number variant, which is the highest schizophrenia genetic risk factor. We quantified the p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58d3d7ffe0ca92e202a9040389d33244
https://doi.org/10.1523/jneurosci.1983-18.2019
https://doi.org/10.1523/jneurosci.1983-18.2019
Autor:
Stephanie L. Sherman, Sharon A. Kidd, Elizabeth Berry-Kravis, Julia L. Bassell, Jeannie Visootsak, Tovi Anderson
Publikováno v:
American journal of medical genetics. Part A. 170(12)
Advances in human genetics have identified a significant number of genetic disorders associated with intellectual disability. As a result, appropriate clinical management of these affected individuals and their family members have become critical in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f04eb5d83b31025115a25e0e6b160f10
https://pubmed.ncbi.nlm.nih.gov/27649377
https://pubmed.ncbi.nlm.nih.gov/27649377