Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Sarah E M Stephenson"'
Autor:
Wei Shern Lee, Emma Macdonald‐Laurs, Sarah E M Stephenson, Colleen D'Arcy, Duncan MacGregor, Richard J Leventer, Wirginia Maixner, A Simon Harvey, Paul J Lockhart
Publikováno v:
Epilepsia Open, Vol 8, Iss 1, Pp 205-210 (2023)
Abstract Pathogenic somatic MTOR variants in the cerebral cortex are a frequent cause of focal cortical dysplasia (FCD). We describe a child with drug and surgery‐resistant focal epilepsy due to FCD type II who developed progressive enlargement and
Externí odkaz:
https://doaj.org/article/43a28f90c6074072b7d54c233d653d34
Autor:
Yujing Gao, Gabrielle R. Wilson, Sarah E. M. Stephenson, Mustapha Oulad-Abdelghani, Nicolas Charlet-Berguerand, Kiymet Bozaoglu, Catriona A. McLean, Paul Q. Thomas, David I. Finkelstein, Paul J. Lockhart
Publikováno v:
Molecular Brain, Vol 13, Iss 1, Pp 1-8 (2020)
Abstract Pathogenic variants in the gene encoding the small GTPase Ras analogue in Brain 39b (RAB39B) are associated with early-onset parkinsonism. In this study we investigated the expression and localization of RAB39B (RNA and protein) in mouse bra
Externí odkaz:
https://doaj.org/article/027707985bc448319d5f94d16f51b9b5
Autor:
Yujing Gao, Gabrielle R. Wilson, Nicholas Salce, Alexandra Romano, George D. Mellick, Sarah E. M. Stephenson, Paul J. Lockhart
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
Pathogenic variants in the gene encoding RAB39B, resulting in the loss of protein function, lead to the development of X-linked early-onset parkinsonism. The gene is located within a chromosomal region that is susceptible to genomic rearrangement, an
Externí odkaz:
https://doaj.org/article/36556d5a724643878e9ca318c6408758
Autor:
Wei Shern Lee, Sara Baldassari, Sarah E. M. Stephenson, Paul J. Lockhart, Stéphanie Baulac, Richard J. Leventer
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 3, p 1344 (2022)
Type II focal cortical dysplasia (FCD) is a neuropathological entity characterised by cortical dyslamination with the presence of dysmorphic neurons only (FCDIIA) or the presence of both dysmorphic neurons and balloon cells (FCDIIB). The year 2021 ma
Externí odkaz:
https://doaj.org/article/5d18c3ab5cf5412ea7dad52dca189a3a
Autor:
Sarah E. M. Stephenson, Timothy D. Aumann, Juliet M. Taylor, Jessica R. Riseley, Ruili Li, Jeffrey R. Mann, Doris Tomas, Paul J. Lockhart
Publikováno v:
Scientific Reports, Vol 8, Iss 1, Pp 1-11 (2018)
Abstract Mutations in PARK2 (parkin) can result in Parkinson’s disease (PD). Parkin shares a bidirectional promoter with parkin coregulated gene (PACRG) and the transcriptional start sites are separated by only ~200 bp. Bidirectionally regulated ge
Externí odkaz:
https://doaj.org/article/7a0bdeea927949b1a7ff3473d4e57c33
Autor:
Wei Shern Lee, Emma Macdonald‐Laurs, Sarah E M Stephenson, Colleen D'Arcy, Duncan MacGregor, Richard J Leventer, Wirginia Maixner, A Simon Harvey, Paul J Lockhart
Publikováno v:
Epilepsia openREFERENCES.
Pathogenic somatic MTOR variants in the cerebral cortex are a frequent cause of focal cortical dysplasia (FCD). We describe a child with drug and surgery-resistant focal epilepsy due to FCD type II who developed progressive enlargement and T2 signal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e839460a0f9bf602908e4a45bd86f787
https://pubmed.ncbi.nlm.nih.gov/36461712
https://pubmed.ncbi.nlm.nih.gov/36461712
Autor:
Wei Shern Lee, Sara Baldassari, Sarah E. M. Stephenson, Paul J. Lockhart, Stéphanie Baulac, Richard J. Leventer
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 1344, p 1344 (2022)
Type II focal cortical dysplasia (FCD) is a neuropathological entity characterised by cortical dyslamination with the presence of dysmorphic neurons only (FCDIIA) or the presence of both dysmorphic neurons and balloon cells (FCDIIB). The year 2021 ma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf0851e56f05c6c84ebd65145792ea76
https://pubmed.ncbi.nlm.nih.gov/35163267
https://pubmed.ncbi.nlm.nih.gov/35163267
Autor:
Martin B, Delatycki, Geneieve, Tai, Louise, Corben, Eppie M, Yiu, Marguerite V, Evans-Galea, Sarah E M, Stephenson, Lyle, Gurrin, Katrina J, Allen, David, Lynch, Paul J, Lockhart
Publikováno v:
Movement disorders : official journal of the Movement Disorder Society. 29(7)
Friedreich ataxia (FRDA) generally results from reduced frataxin, a mitochondrial protein involved in iron metabolism. We assessed whether HFE p.C282Y and/or p.H63D heterozygosity modifies age at disease onset or disease severity in individuals with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::87c3b83eb6da824fd94e51be8d010899
https://pubmed.ncbi.nlm.nih.gov/24390816
https://pubmed.ncbi.nlm.nih.gov/24390816
Publikováno v:
The Journal of biological chemistry. 280(39)
The homeostatic regulation of essential elements such as copper requires many proteins whose activities are often mediated and tightly coordinated through protein-protein interactions. This regulation ensures that cells receive enough copper without
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::eca196355e078ee2257e2054188d5348
https://pubmed.ncbi.nlm.nih.gov/16051599
https://pubmed.ncbi.nlm.nih.gov/16051599
Autor:
Wei Shern Lee, Sara Baldassari, Mathilde Chipaux, Homa Adle‐Biassette, Sarah E. M. Stephenson, Wirginia Maixner, A. Simon Harvey, Paul J. Lockhart, Stéphanie Baulac, Richard J. Leventer
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 8, Iss 2, Pp 485-490 (2021)
Abstract Focal cortical dysplasia (FCD) and hemimegalencephaly (HME) are related malformations with shared etiologies. We report three patients with a spectrum of cortical malformations associated with pathogenic brain‐specific somatic Ras homolog
Externí odkaz:
https://doaj.org/article/3037ab4905b242568f51ef06d52f0962