Zobrazeno 1 - 10
of 987
pro vyhledávání: '"Frank Lehmann-Horn"'
Autor:
Kerstin Hoppe, Tina Sartorius, Sunisa Chaiklieng, Georg Wietzorrek, Peter Ruth, Karin Jurkat-Rott, Scott Wearing, Frank Lehmann-Horn, Werner Klingler
Publikováno v:
Frontiers in Physiology, Vol 11 (2020)
Reduced Cl− conductance causes inhibited muscle relaxation after forceful voluntary contraction due to muscle membrane hyperexcitability. This represents the pathomechanism of myotonia congenita. Due to the prevailing data suggesting that an increa
Externí odkaz:
https://doaj.org/article/9db5fb3bf79e453fab6cd2dbdb9c10bc
Autor:
Emmanuelle Ranza, Frank Lehmann-Horn, Dorothée Ville, Florence Riant, Vincent Zimmern, Christian Korff, Emmanuel Roze, Gaetan Lesca, Julitta de Bellescize
Publikováno v:
Neuropediatrics, Vol. 50, No 5 (2019) pp. 308-312
Mutations that disrupt the TBC1D24 presynaptic protein have been implicated in various neurological disorders including epilepsy, chronic encephalopathy, DOORS (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures) syndrome, no
Autor:
Werner Klingler, Sunisa Chaiklieng, Kerstin Hoppe, Scott C. Wearing, Frank Lehmann-Horn, Karin Jurkat-Rott
Publikováno v:
The Journal of Physiology. 597:225-235
KEY POINTS: During myotonia congenita, reduced chloride (Cl(−)) conductance results in impaired muscle relaxation and increased muscle stiffness after forceful voluntary contraction. Repetitive contraction of myotonic muscle decreases or even aboli
Autor:
Karin Jurkat-Rott, Werner Klingler, Kerstin Hoppe, Frank Lehmann-Horn, Scott C. Wearing, Sunisa Chaiklieng
Publikováno v:
Pflugers Archiv : European journal of physiology. 472(10)
In myotonia, reduced Cl- conductance of the mutated ClC-1 channels causes hindered muscle relaxation after forceful voluntary contraction due to muscle membrane hyperexcitability. Repetitive contraction temporarily decreases myotonia, a phenomena cal
Autor:
Frank Lehmann-Horn, Vern Winston, James R. Groome, Paula Arinze, Landon Bayless-Edwards, Karin Jurkat-Rott
Publikováno v:
Scientific Reports, Vol 8, Iss 1, Pp 1-13 (2018)
Hypokalemic periodic paralysis is a skeletal muscle disease characterized by episodic weakness associated with low serum potassium. We compared clinical and biophysical effects of R222W, the first hNaV1.4 domain I mutation linked to this disease. R22
Autor:
Gisa Ellrichmann, Christiane Schneider-Gold, Benedikt Schoser, Michael Sinnreich, Stefan Quasthoff, Frank Lehmann-Horn
Publikováno v:
Aktuelle Neurologie. 45:167-177
ZusammenfassungIn der Behandlung der myotonen Dystrophien, nicht dystrophen Myotonien und periodischen Paralysen haben sich in den letzten Jahren einige neue Aspekte ergeben, die in der aktualisierten Leitlinie zu myotonen Dystrophien, nicht dystroph
Publikováno v:
Clinical Genetics. 91:859-867
Hyperkalemic periodic paralysis (HyperPP) is a dominantly inherited muscle disease caused by mutations in SCN4A gene encoding skeletal muscle voltage gated Nav 1.4 channels. We identified a novel Nav 1.4 mutation I692M in 14 families out of the 104 g
Publikováno v:
Biophysical Journal. 120:154a
Autor:
Yuwei Da, Karin Jurkat-Rott, Marcin Bednarz, Frank Lehmann-Horn, Jens Schallner, Chunxiang Fan
Publikováno v:
Journal of Neurological Research And Therapy. 1:20-30
Autor:
Kerstin Hoppe, Frank Lehmann-Horn, Werner Klingler, Scott C. Wearing, Karin Jurkat-Rott, Sunisa Chaiklieng
Publikováno v:
Pflügers Archiv - European Journal of Physiology. 472:1533-1533
The original article contains an error during online publication. Table 2 was included during production round and now deleted. The Original article has been corrected.