Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Ming S Soh"'
Publikováno v:
PLoS ONE, Vol 15, Iss 4, p e0231600 (2020)
Charcot-Marie-Tooth (CMT) disease is an inherited peripheral motor and sensory neuropathy. The disease is divided into demyelinating (CMT1) and axonal (CMT2) neuropathies, and although we have gained molecular information into the details of CMT1 pat
Externí odkaz:
https://doaj.org/article/32b22701677248898b4b54fd40350a6f
Autor:
Chaseley E. Mckenzie, Chen-Jui Ho, Ian C. Forster, Ming S. Soh, A. Marie Phillips, Ying-Chao Chang, Ingrid E. Scheffer, Christopher A. Reid, Meng-Han Tsai
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
Variants in HCN1 are associated with a range of epilepsy syndromes including developmental and epileptic encephalopathies. Here we describe a child harboring a novel de novo HCN1 variant, E246A, in a child with epilepsy and mild developmental delay.
Externí odkaz:
https://doaj.org/article/33a3627bc73b425e920ad245f5a1fbc4
Autor:
Lauren E. Bleakley, Ming S. Soh, Richard D. Bagnall, Lynette G. Sadleir, Samuel Gooley, Christopher Semsarian, Ingrid E. Scheffer, Samuel F. Berkovic, Christopher A. Reid
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
Sudden unexpected death in epilepsy (SUDEP) is the most common cause of premature mortality in individuals with epilepsy. Acute and adaptive changes in heart rhythm in epilepsy implicate cardiac dysfunction as a potential pathogenic mechanism in SUDE
Externí odkaz:
https://doaj.org/article/5be4330ce7214fc981cc37384e3e5349
Autor:
Chaseley E McKenzie, Ian C Forster, Ming S Soh, A Marie Phillips, Lauren E Bleakley, Sophie J Russ-Hall, Kenneth A Myers, Ingrid E Scheffer, Christopher A Reid
Publikováno v:
Brain Communications. 5
Pathogenic variants in HCN1 are an established cause of developmental and epileptic encephalopathy (DEE). To date, the stratification of patients with HCN1-DEE based on the biophysical consequence on channel function of a given variant has not been p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4dd751c20c6593613b2ffed35a11b087
https://doi.org/10.1093/braincomms/fcad156
https://doi.org/10.1093/braincomms/fcad156
Autor:
Ian C. Forster, Christopher A. Reid, Géza Berecki, Steven Petrou, Andrew Hung, Chaseley E McKenzie, Ming S Soh, Anirudh Kathirvel
Publikováno v:
Progress in Biophysics and Molecular Biology. 166:156-172
Hyperpolarization-gated, cyclic nucleotide-activated (HCN1-4) channels are inwardly rectifying cation channels that display voltage dependent activation and de-activation. Pathogenic variants in HCN1 are associated with severe developmental and epile
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ca4782da05f5d0fec74ec4f46af8451
https://doi.org/10.1016/j.pbiomolbio.2021.07.005
https://doi.org/10.1016/j.pbiomolbio.2021.07.005
Autor:
Christopher A. Reid, Christopher Semsarian, Samuel F. Berkovic, A. Marie Phillips, Richard D. Bagnall, Lauren E Bleakley, Erlina S Mohamed Syazwan, Mathew D. F. Chiam, Chaseley E McKenzie, Melanie Bahlo, Mark F. Bennett, Douglas E. Crompton, Michael S. Hildebrand, Ingrid E. Scheffer, Ming S Soh
Publikováno v:
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Vol 8, Iss 7, Pp 1422-1432 (2021)
Annals of Clinical and Translational Neurology, Vol 8, Iss 7, Pp 1422-1432 (2021)
Objective To compare the frequency and impact on the channel function of KCNH2 variants in SUDEP patients with epilepsy controls comprising patients older than 50 years, a group with low SUDEP risk, and establish loss‐of‐function KCNH2 variants a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4e7ad6a74773fa9a6bbac9c52b90bb6
http://europepmc.org/articles/PMC8283159
http://europepmc.org/articles/PMC8283159
Autor:
Ming S. Soh, Richard D. Bagnall, Christopher Semsarian, Ingrid E. Scheffer, Samuel F. Berkovic, Christopher A. Reid
Publikováno v:
EpilepsiaREFERENCES. 63(6)
Sudden unexpected death in epilepsy (SUDEP) is a leading cause of premature death in epilepsy. The underlying pathological mechanisms are likely to be multifactorial. Cardiac arrhythmia has been suggested as a cause of death in some patients with SUD
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::573422424a98ba712fb94de9aa1e8c02
https://pubmed.ncbi.nlm.nih.gov/35397174
https://pubmed.ncbi.nlm.nih.gov/35397174
Autor:
Chaseley E, Mckenzie, Chen-Jui, Ho, Ian C, Forster, Ming S, Soh, A Marie, Phillips, Ying-Chao, Chang, Ingrid E, Scheffer, Christopher A, Reid, Meng-Han, Tsai
Publikováno v:
Frontiers in neurology. 13
Variants in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::df5aff3d90dc3324074771f687d88489
https://pubmed.ncbi.nlm.nih.gov/35359652
https://pubmed.ncbi.nlm.nih.gov/35359652
Autor:
Brent Neumann, Simon Crawford, Ansa Emmanuel Cobham, Jean-Sébastien Teoh, Ming S. Soh, Christen K. Mirth, Nethmi M. B. Yapa, Joseph J. Byrne, Tarika Vijayaraghavan, Gursimran Chandhok
Publikováno v:
Cellular and Molecular Life Sciences
Mitochondria are essential components of eukaryotic cells, carrying out critical physiological processes that include energy production and calcium buffering. Consequently, mitochondrial dysfunction is associated with a range of human diseases. Funda
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3303103635f46b570161aae65696c14e
https://doi.org/10.1007/s00018-019-03024-5
https://doi.org/10.1007/s00018-019-03024-5
Autor:
Andrew Hung, Ian C. Forster, Chaseley E. Mckenzie, Geza Berecki, Steven Petrou, Anirudh Kathirvel, Ming S. Soh, Christopher A. Reid
Publikováno v:
Progress in Biophysics and Molecular Biology. 172:90
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::223ec94022c134ad2142143d096b07dd
https://doi.org/10.1016/j.pbiomolbio.2022.05.003
https://doi.org/10.1016/j.pbiomolbio.2022.05.003