Zobrazeno 1 - 10
of 714
pro vyhledávání: '"Andrew G Engel"'
Publikováno v:
Medwave, Vol 19, Iss 05, Pp e7645-e7645 (2019)
Introducción Los síndromes miasténicos congénitos son un grupo heterogéneo de desórdenes genéticos, caracterizados por una transmisión sináptica anormal en la placa neuromuscular. Reporte Presentamos el caso de un paciente de dos años,
Externí odkaz:
https://doaj.org/article/fd57b43f39ca4f8ea4b38890b27e6bc7
Autor:
Xin‐Ming Shen, Tomohiko Nakata, Seiji Mizuno, Issei Imoto, Duygu Selcen, Kinji Ohno, Andrew G. Engel
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 10, Iss 5, Pp 732-743 (2023)
Abstract Objective To dissect the kinetic defects of acetylcholine receptor (AChR) γ subunit variant in an incomplete form of the Escobar syndrome without pterygium and compare it with those of a variant of corresponding residue in the AChR ε subun
Externí odkaz:
https://doaj.org/article/12fb62f583b14adf8b8977384aad2bd7
Autor:
Andrew G. Engel
Myasthenia Gravis and Myasthenic Disorders, Second Edition is a thoroughly re-written and updated version of the highly successful first edition published in 1999. The current edition begins with an overview of the anatomy and molecular architecture
Autor:
Xin‐Ming Shen, Margherita Milone, Hang‐Long Wang, Brenda Banwell, Duygu Selcen, Steven M. Sine, Andrew G. Engel
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 10, Pp 2066-2078 (2019)
Abstract Objective To characterize the molecular and phenotypic basis of a severe slow‐channel congenital myasthenic syndrome (SCCMS). Methods Intracellular and single‐channel recordings from patient endplates; alpha‐bungarotoxin binding studie
Externí odkaz:
https://doaj.org/article/d00ccbda480a4d6988125db4b30dce44
Autor:
Zhiyv Niu, Carly Sabine Pontifex, Sarah Berini, Leslie E. Hamilton, Elie Naddaf, Eric Wieben, Ross A. Aleff, Kristina Martens, Angela Gruber, Andrew G. Engel, Gerald Pfeffer, Margherita Milone
Publikováno v:
Frontiers in Neurology, Vol 9 (2018)
ObjectiveThe aim of this study is to identify the molecular defect of three unrelated individuals with late-onset predominant distal myopathy; to describe the spectrum of phenotype resulting from the contributing role of two variants in genes located
Externí odkaz:
https://doaj.org/article/b52b8d2eeaf5408ca25991522ea4a062
Publikováno v:
Neuromuscular Disorders. 30:236-240
Mutations in heat shock protein B8 were initially identified in inherited neuropathies and were more recently found to cause a predominantly distal myopathy with myofibrillar pathology and rimmed vacuoles. Rare patients also had proximal weakness. On
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ac7f011104f53b322c256060632e3614
https://doi.org/10.1016/j.nmd.2020.02.005
https://doi.org/10.1016/j.nmd.2020.02.005
Publikováno v:
International Journal of Molecular Sciences. 24:3730
Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders characterized by impaired neuromuscular signal transmission due to germline pathogenic variants in genes expressed at the neuromuscular junction (NMJ). A total of 35 genes h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::46493173055122bb5106e1a0ae1153e7
https://doi.org/10.3390/ijms24043730
https://doi.org/10.3390/ijms24043730
Autor:
Charungthai Dejthevaporn, Suppachok Wetchaphanphesat, Teeratorn Pulkes, Sasivimol Rattanasiri, Andrew G. Engel, Rawiphan Witoonpanich
Publikováno v:
Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia. 96
The slow-channel congenital myasthenic syndrome is an autosomal dominant neuromuscular disorder caused by mutations in different subunits of the acetylcholine receptor. Fluoxetine, a common antidepressant and long-lived open-channel blocker of acetyl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b860e511d58c90388992b2901974237
https://pubmed.ncbi.nlm.nih.gov/34999496
https://pubmed.ncbi.nlm.nih.gov/34999496
Autor:
Andrew E. Sloan, Ruben Stepanyan, Kevin D. Cooper, Thomas S. McCormick, David C. Soler, Ardeschir Vahedi-Faridi, Andrew G. Engel, Thomas Kowatz
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-8 (2021)
Scientific Reports
Scientific Reports
The inability to over-express Aquaporin 6 (AQP6) in the plasma membrane of heterologous cells has hampered efforts to further characterize the function of this aquaglyceroporin membrane protein at atomic detail using crystallographic approaches. Usin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d57e104ba18abd68dcc01a5944801e6b
https://doi.org/10.1038/s41598-021-93117-8
https://doi.org/10.1038/s41598-021-93117-8
Autor:
Andrew G. Engel, Duygu Selcen, Steven M. Sine, Margherita Milone, Hang Long Wang, Xin Ming Shen, Brenda Banwell
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 10, Pp 2066-2078 (2019)
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology
Objective To characterize the molecular and phenotypic basis of a severe slow‐channel congenital myasthenic syndrome (SCCMS). Methods Intracellular and single‐channel recordings from patient endplates; alpha‐bungarotoxin binding studies; direct
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8699ec3fcfc81224dbc528b99a1f5ab1
https://doaj.org/article/d00ccbda480a4d6988125db4b30dce44
https://doaj.org/article/d00ccbda480a4d6988125db4b30dce44