valine and Cerebellar Ataxia

valine has been researched along with Cerebellar Ataxia in 3 studies

Research

Studies (3)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's2 (66.67)29.6817
2010's1 (33.33)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Choi, JH; Choi, KD; Choi, SY; Jen, JC; Kim, HJ; Kim, HS; Kim, JS; Shin, JH1
Doh-Ura, K; Hirata, A; Kamakura, K; Motoyoshi, K; Nishida, T; Tokumaru, AM1
Hammans, S; Hellier, K; Maguire, A; May, A1

Other Studies

3 other study(ies) available for valine and Cerebellar Ataxia

ArticleYear
Late-onset episodic ataxia associated with SLC1A3 mutation.
    Journal of human genetics, 2017, Volume: 62, Issue:3

    Topics: Acetazolamide; Adult; Age of Onset; Amino Acid Sequence; Amino Acid Substitution; Anticonvulsants; Base Sequence; Cerebellar Ataxia; Excitatory Amino Acid Transporter 1; Female; Gene Expression; Heterozygote; Humans; Isoleucine; Male; Middle Aged; Models, Molecular; Mutation; Pedigree; Phenotype; Sequence Alignment; Valine

2017
Probable sporadic Creutzfeldt-Jakob disease with valine homozygosity at codon 129 and bilateral middle cerebellar peduncle lesions.
    Internal medicine (Tokyo, Japan), 2003, Volume: 42, Issue:2

    Topics: Aged; Cerebellar Ataxia; Codon; Creutzfeldt-Jakob Syndrome; Disease Progression; Electroencephalography; Fatal Outcome; Heterozygote; Humans; Magnetic Resonance Imaging; Male; Polymorphism, Genetic; Severity of Illness Index; Valine

2003
X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L.
    British journal of haematology, 2001, Volume: 115, Issue:4

    Topics: Anemia, Sideroblastic; ATP-Binding Cassette Transporters; Cerebellar Ataxia; Female; Genetic Linkage; Humans; Iron; Leucine; Male; Mitochondria; Mutation, Missense; Polymerase Chain Reaction; Sequence Analysis, DNA; Valine; X Chromosome

2001