Page last updated: 2024-08-17

histidine and Ataxia

histidine has been researched along with Ataxia in 5 studies

Research

Studies (5)

TimeframeStudies, this research(%)All Research%
pre-19902 (40.00)18.7374
1990's0 (0.00)18.2507
2000's3 (60.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Artuch, R; Espinós, C; Lupo, V; Martínez-Rubio, D; Ormazabal, A; Palau, F; Pineda, M; Spaapen, LJ; Vilaseca, MA1
Bird, TD; Hildebrand, ME; Materek, LA; Snutch, TP; Spacey, SD1
Appleton, D; Coman, D; Jaeken, J; Klingberg, S; MacDonald, R; McGill, J; Morris, D1
Appleton, RE; Chitayat, D; Hall, JG; Jan, JE; Kennedy, R1
Frey, HJ; Frey, ML; Riekkinen, PJ; Tuomola, HO1

Other Studies

5 other study(ies) available for histidine and Ataxia

ArticleYear
Mutations in the urocanase gene UROC1 are associated with urocanic aciduria.
    Journal of medical genetics, 2009, Volume: 46, Issue:6

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acid Sequence; Ataxia; Biomarkers; Child; Computer Simulation; Female; Folic Acid; Histidine; Humans; Intellectual Disability; Models, Molecular; Molecular Sequence Data; Mutation; Sequence Alignment; Urocanate Hydratase; Urocanic Acid

2009
Functional implications of a novel EA2 mutation in the P/Q-type calcium channel.
    Annals of neurology, 2004, Volume: 56, Issue:2

    Topics: Acetazolamide; Adult; Anticonvulsants; Ataxia; Calcium Channels; Cell Line; DNA Mutational Analysis; Electric Stimulation; Embryo, Mammalian; Heteroduplex Analysis; Histidine; Humans; Kidney; Leucine; Membrane Potentials; Mutagenesis, Site-Directed; Mutation, Missense; Patch-Clamp Techniques; Time Factors; Transfection

2004
Congenital disorder of glycosylation type 1a: three siblings with a mild neurological phenotype.
    Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia, 2007, Volume: 14, Issue:7

    Topics: Adult; Arginine; Ataxia; Cerebellar Diseases; Congenital Disorders of Glycosylation; Female; Histidine; Humans; Intellectual Disability; Lysine; Magnetic Resonance Imaging; Male; Mutation; Osteoporosis; Phenotype; Phosphotransferases (Phosphomutases); Siblings

2007
Joubert's syndrome associated with congenital ocular fibrosis and histidinemia.
    Archives of neurology, 1989, Volume: 46, Issue:5

    Topics: Ataxia; Cerebellum; Developmental Disabilities; Female; Fibrosis; Histidine; Humans; Infant; Muscular Diseases; Oculomotor Muscles; Psychomotor Performance; Respiration Disorders; Syndrome; Tomography, X-Ray Computed

1989
A family with autosomal dominant spinocerebellar ataxia, with electrophysiological findings.
    Annals of clinical research, 1973, Volume: 5, Issue:3

    Topics: Action Potentials; Adult; Aged; Ataxia; Beta-Globulins; Cerebellar Ataxia; Electromyography; Female; Foot Deformities, Congenital; Histidine; Humans; Lysine; Male; Methods; Middle Aged; Neural Conduction; Nystagmus, Pathologic; Optic Atrophy; Pedigree

1973