Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Kirsten Denman"'
Autor:
Jessica H Myers, Kirsten Denman, Chris DuPont, Ahmed A Hawash, Kevin R Novak, Andrew Koesters, Manfred Grabner, Anamika Dayal, Andrew A Voss, Mark M Rich
Publikováno v:
eLife, Vol 10 (2021)
In addition to the hallmark muscle stiffness, patients with recessive myotonia congenita (Becker disease) experience debilitating bouts of transient weakness that remain poorly understood despite years of study. We performed intracellular recordings
Externí odkaz:
https://doaj.org/article/f201e13c4e5f4c20b08b45b730d90c95
Publikováno v:
Exp Neurol
Patients with myotonia congenita suffer from muscle stiffness caused by muscle hyperexcitability. Although loss-of-function mutations in the ClC-1 muscle chloride channel have been known for 25 years to cause myotonia congenita, this discovery has le
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44b244683443802c3dee308fcba7e8ff
https://doi.org/10.1016/j.expneurol.2019.02.002
https://doi.org/10.1016/j.expneurol.2019.02.002
Autor:
Kevin R. Novak, Anamika Dayal, Chris DuPont, Jessica H Myers, Mark M. Rich, Andrew Koesters, Kirsten Denman, Andrew A. Voss, Manfred Grabner, Ahmed A. Hawash
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7f6215c5c397370bb10183025c7f0aad
https://doi.org/10.7554/elife.65691.sa2
https://doi.org/10.7554/elife.65691.sa2
Autor:
Chris DuPont, Anamika Dayal, Andrew Koesters, Kevin R. Novak, Kirsten Denman, Andrew A. Voss, Jessica H Myers, Ahmed A. Hawash, Mark M. Rich, Manfred Grabner
Publikováno v:
eLife, Vol 10 (2021)
eLife
eLife
In addition to the hallmark muscle stiffness, patients with recessive myotonia congenita (Becker disease) experience debilitating bouts of transient weakness that remain poorly understood despite years of study. We performed intracellular recordings
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93b40765fcf9a44c20c5417a622d7891
https://doi.org/10.1101/2020.12.23.424129
https://doi.org/10.1101/2020.12.23.424129
Autor:
Jeremy M. Sullivan, Charlotte J. Sumner, Cathleen M. Lutz, Laurent P. Bogdanik, Mark M. Rich, Kevin R. Novak, Nicklaus L. Brown, Kirsten Denman, Chris DuPont, Phillip V. Walker, Andrew A. Voss, Jessica H Myers, David R. Ladle
Publikováno v:
Ann Neurol
OBJECTIVE Myotonia is caused by involuntary firing of skeletal muscle action potentials and causes debilitating stiffness. Current treatments are insufficiently efficacious and associated with side effects. Myotonia can be triggered by voluntary move
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b8962ac15fa3cb240f331d4a3cd5936
https://pubmed.ncbi.nlm.nih.gov/32418267
https://pubmed.ncbi.nlm.nih.gov/32418267