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histidine and Autosomal Dominant Cerebellar Ataxia, Type II

histidine has been researched along with Autosomal Dominant Cerebellar Ataxia, Type II in 6 studies

Research

Studies (6)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's2 (33.33)29.6817
2010's4 (66.67)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Advincula, J; Ashizawa, T; Lee, LV; Perlman, S; Rosales, RL; Subramony, SH; Waters, MF1
Bannykh, S; Bickford, JS; Fernandez-Funez, P; Gallego-Iradi, C; Hall, A; Huynh, DP; Khare, S; Nick, HS; Nick, JA; Pulst, SM; Rincon-Limas, DE; Salmasinia, D; Waters, MF; Wawrowsky, K1
Lin, D; Snider, A; Takemoto, DJ; Willard, L; Zhang, Y1
Averaimo, S; Canale, C; Falasca, L; Fortunati, V; Gliozzi, A; Guizzardi, F; Jodice, C; Mapelli, L; Mazzanti, M; Pesci, D; Piacentini, M; Relini, A1
Annesi, G; Bruno, E; Cavalcanti, F; Dibilio, V; Gagliardi, M; Gambardella, A; Mostile, G; Nicoletti, A; Quattrone, A; Tarantino, P; Zappia, M1
Baron, R; Deuschl, G; Klebe, S; Müller, U; Nolte, D1

Other Studies

6 other study(ies) available for histidine and Autosomal Dominant Cerebellar Ataxia, Type II

ArticleYear
Comprehensive phenotype of the p.Arg420his allelic form of spinocerebellar ataxia type 13.
    Cerebellum (London, England), 2013, Volume: 12, Issue:6

    Topics: Adult; Arginine; Cerebellum; Family Health; Female; Genetic Linkage; Genotype; Histidine; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Mutation; Phenotype; Philippines; Shaw Potassium Channels; Spinocerebellar Ataxias; Spinocerebellar Degenerations

2013
KCNC3(R420H), a K(+) channel mutation causative in spinocerebellar ataxia 13 displays aberrant intracellular trafficking.
    Neurobiology of disease, 2014, Volume: 71

    Topics: Animals; Animals, Genetically Modified; Arginine; Biotinylation; Cadherins; Chlorocebus aethiops; COS Cells; Cytoplasm; Drosophila; Drosophila Proteins; Endoplasmic Reticulum; Female; Histidine; Humans; Intracellular Fluid; Male; Mutation; Oocytes; Protein Processing, Post-Translational; Protein Transport; Shaw Potassium Channels; Spinocerebellar Ataxias; Spinocerebellar Degenerations; Transfection

2014
Loss of Purkinje cells in the PKCgamma H101Y transgenic mouse.
    Biochemical and biophysical research communications, 2009, Jan-16, Volume: 378, Issue:3

    Topics: Amino Acid Substitution; Animals; Caspase 12; Connexins; Disease Models, Animal; Enzyme Activation; Histidine; Humans; Mice; Mice, Transgenic; Phosphorylation; Protein Kinase C; Purkinje Cells; Spinocerebellar Ataxias; Tyrosine

2009
Toxic effects of expanded ataxin-1 involve mechanical instability of the nuclear membrane.
    Biochimica et biophysica acta, 2012, Volume: 1822, Issue:6

    Topics: Animals; Ataxins; Cell Nucleus; Chlorocebus aethiops; COS Cells; Histidine; Lipid Bilayers; Microscopy, Atomic Force; Nerve Tissue Proteins; Nuclear Envelope; Nuclear Proteins; Peptides; Spinocerebellar Ataxias

2012
Sacsin-related spastic ataxia caused by a novel missense mutation p.Arg272His in a patient from Sicily, southern Italy.
    Cerebellum (London, England), 2013, Volume: 12, Issue:4

    Topics: Adult; Arginine; Female; Heat-Shock Proteins; Histidine; Humans; Intellectual Disability; Italy; Muscle Spasticity; Mutation, Missense; Optic Atrophy; Sicily; Spinocerebellar Ataxias

2013
Codon 101 of PRKCG, a preferential mutation site in SCA14.
    Movement disorders : official journal of the Movement Disorder Society, 2007, Sep-15, Volume: 22, Issue:12

    Topics: Codon; DNA Mutational Analysis; Exons; Family Health; Histidine; Humans; Male; Middle Aged; Mutation; Protein Kinase C; Spinocerebellar Ataxias; Tyrosine

2007