Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Charles, Anumonwo"'
Autor:
Jacob M. Hull, Heather A. O’Malley, Chunling Chen, Yukun Yuan, Nicholas Denomme, Alexandra A. Bouza, Charles Anumonwo, Luis F. Lopez‐Santiago, Lori L. Isom
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 11, Pp 2137-2149 (2020)
Abstract Objective Human variants in voltage‐gated sodium channel (VGSC) α and β subunit genes are linked to developmental and epileptic encephalopathies (DEEs). Inherited, biallelic, loss‐of‐function variants in SCN1B, encoding the β1/β1B
Externí odkaz:
https://doaj.org/article/34e03d65f7274edcbd5c7e0136263957
Autor:
Chunling Chen, Charles Anumonwo, Heather A. O'Malley, Alexandra A. Bouza, Yukun Yuan, Jacob M. Hull, Luis F. Lopez-Santiago, Nicholas Denomme, Lori L. Isom
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 11, Pp 2137-2149 (2020)
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology
Objective Human variants in voltage‐gated sodium channel (VGSC) α and β subunit genes are linked to developmental and epileptic encephalopathies (DEEs). Inherited, biallelic, loss‐of‐function variants in SCN1B, encoding the β1/β1B subunits,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6c85a4560c7402f274037730b5d5926
https://doaj.org/article/34e03d65f7274edcbd5c7e0136263957
https://doaj.org/article/34e03d65f7274edcbd5c7e0136263957
Autor:
Qian Lin, Zhou Han, Lori L. Isom, Charles Anumonwo, Meena, Isabel Aznarez, Anne Christiansen, Gene Liau, Chunling Chen, Sophina Ji, Steven C. Leiser, Chante Liu
Publikováno v:
Science Translational Medicine. 12
Dravet syndrome (DS) is an intractable developmental and epileptic encephalopathy caused largely by de novo variants in the SCN1A gene, resulting in haploinsufficiency of the voltage-gated sodium channel α subunit NaV1.1. Here, we used Targeted Augm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0844a15a1476e0bb8609fcae9ae8b210
https://doi.org/10.1126/scitranslmed.aaz6100
https://doi.org/10.1126/scitranslmed.aaz6100
Autor:
Miriam H. Meisler, Jeffrey L. Noebels, Charles Anumonwo, Jerrah K. Holth, Lori L. Isom, Chunling Chen, Rosie K. A. Bunton-Stasyshyn
Publikováno v:
Annals of Clinical and Translational Neurology
Deletion of Mapt, encoding the microtubule‐binding protein Tau, prevents disease in multiple genetic models of hyperexcitability. To investigate whether the effect of Tau depletion is generalizable across multiple sodium channel gene‐linked model
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::307588b7e5d774d0d1113c6919c6e3d8
https://doi.org/10.1002/acn3.599
https://doi.org/10.1002/acn3.599
Autor:
Zhou, Han, Chunling, Chen, Anne, Christiansen, Sophina, Ji, Qian, Lin, Charles, Anumonwo, Chante, Liu, Steven C, Leiser, Meena, Isabel, Aznarez, Gene, Liau, Lori L, Isom
Publikováno v:
Science translational medicine. 12(558)
Dravet syndrome (DS) is an intractable developmental and epileptic encephalopathy caused largely by de novo variants in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::eeec9611707710dc47c5068f0f085929
https://pubmed.ncbi.nlm.nih.gov/34025276
https://pubmed.ncbi.nlm.nih.gov/34025276