valine and Myotonia

valine has been researched along with Myotonia in 4 studies

Research

Studies (4)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's1 (25.00)18.2507
2000's2 (50.00)29.6817
2010's1 (25.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Mizuta, I; Nakagawa, M; Noto, Y; Sasaki, R; Shiga, K; Yamawaki, M1
Abriel, H; Burgunder, JM; Chen, L; Kappeler, L; Petitprez, S; Rösler, KM; Schorderet, D; Tiab, L1
Drost, G; Faber, CG; Ginjaar, HB; Trip, J; van Engelen, BG1
Costigan, D; Farrell, MA; Hardiman, O; Kelly, P; Murphy, S; Yang, WS1

Other Studies

4 other study(ies) available for valine and Myotonia

ArticleYear
[Normokalemic periodic paralysis lasting for two weeks: a severe form of sodium channelopathy with M1592V mutation].
    Rinsho shinkeigaku = Clinical neurology, 2014, Volume: 54, Issue:5

    Topics: Adolescent; Adult; Aged; Aged, 80 and over; Amino Acid Sequence; Channelopathies; Eyelid Diseases; Female; Heterozygote; Humans; Male; Methionine; Middle Aged; Mutation; Myotonia; NAV1.4 Voltage-Gated Sodium Channel; Paralyses, Familial Periodic; Pedigree; Recurrence; Sodium Channels; Time Factors; Valine; Young Adult

2014
A novel dominant mutation of the Nav1.4 alpha-subunit domain I leading to sodium channel myotonia.
    Neurology, 2008, Nov-18, Volume: 71, Issue:21

    Topics: Cell Line; DNA Mutational Analysis; Family Health; Female; Humans; Isoleucine; Membrane Potentials; Mutation; Myotonia; NAV1.4 Voltage-Gated Sodium Channel; Protein Subunits; Sodium Channels; Transfection; Valine

2008
Warm-up phenomenon in myotonia associated with the V445M sodium channel mutation.
    Journal of neurology, 2007, Volume: 254, Issue:2

    Topics: Adult; Aged; Female; Humans; Male; Methionine; Middle Aged; Mutation; Myotonia; NAV1.4 Voltage-Gated Sodium Channel; Sodium Channels; Temperature; Valine

2007
Paramyotonia congenita and hyperkalemic periodic paralysis associated with a Met 1592 Val substitution in the skeletal muscle sodium channel alpha subunit--a large kindred with a novel phenotype.
    Neuromuscular disorders : NMD, 1997, Volume: 7, Issue:2

    Topics: Adult; Female; Humans; Male; Methionine; Muscle, Skeletal; Myotonia; Paralysis; Pedigree; Phenotype; Sodium Channels; Valine

1997