Targeted pharmacotherapy for trafficking defective ClC-1 mutations in myotonia congenita

2021 ◽  
Vol 429 ◽  
pp. 118425
Author(s):  
Concetta Altamura ◽  
Elena Conte ◽  
Giulia Maria Camerino ◽  
Francesco Girolamo ◽  
Carmen Campanale ◽  
...  
Keyword(s):  
Myotonia Congenita

�ber eine erfolgreiche Behandlung der Myotonia congenita (Thomsen) mit Kationenaustauschern

1953 ◽  
Vol 31 (35-36) ◽  
pp. 868-869 ◽  
Author(s):  
Rolf Gr�ttner ◽  
Hans Georg Mertens
Keyword(s):  
Myotonia Congenita

Association of Three Different Mutations in the CLCN1 Gene Modulating the Phenotype in a Consanguineous Family with Myotonia Congenita

2021 ◽  
Author(s):  
Lucas Santos Souza ◽  
Priscila Calyjur ◽  
Antonio Fernando Ribeiro ◽  
Juliana Gurgel-Giannetti ◽  
Rita Cassia Mingroni Pavanello ◽  
...  
Keyword(s):  
Consanguineous Family ◽  
Myotonia Congenita ◽  
Clcn1 Gene

A novel murine myotonia congenita without molecular defects in the ClC-1 and the SCN4A

Neurology ◽  
2002 ◽  
Vol 59 (7) ◽  
pp. 1091-1094 ◽  
Author(s):  
T. Shirakawa ◽  
K. Sakai ◽  
Y. Kitagawa ◽  
A. Hori ◽  
G. Hirose
Keyword(s):  
Myotonia Congenita ◽  
Molecular Defects

Mineralocorticoid- und Acth-Wirkung auf die Myotonia congenita (Thomsen)

1955 ◽  
Vol 33 (25-26) ◽  
pp. 623-624 ◽  
Author(s):  
Hans-Hasso Nissen
Keyword(s):  
Myotonia Congenita

scholarly journals ClC-1 Chloride Channel Mutations in Myotonia Congenita: Variable Penetrance of Mutations Shifting the Voltage Dependence

1998 ◽  
Vol 7 (11) ◽  
pp. 1753-1760 ◽  
Author(s):  
C. Kubisch ◽  
T. Schmidt-Rose ◽  
B. Fontaine ◽  
A. H. Bretag ◽  
T. J. Jentsch
Keyword(s):  
Chloride Channel ◽  
Voltage Dependence ◽  
Myotonia Congenita ◽  
Variable Penetrance

Muscular Paralysis in Myotonia congenita

1972 ◽  
Vol 7 (4) ◽  
pp. 221-227 ◽  
Author(s):  
K. Ricker ◽  
H.-M. Meinck
Keyword(s):  
Myotonia Congenita

scholarly journals A Large Dominant Myotonia Congenita Family with a V1293I Mutation inSCN4A

2016 ◽  
Vol 12 (4) ◽  
pp. 509 ◽  
Author(s):  
Ki Wha Chung ◽  
Da Hye Yoo ◽  
Soo Jung Lee ◽  
Byung-Ok Choi ◽  
Sang-Soo Lee
Keyword(s):  
Myotonia Congenita
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