Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.070 | Biomarker | phenotype | BEFREE | Nevertheless, only global intellectual abilities and executive functions significantly correlated with the overall severity of ataxia as assessed by the SARA scale, and impaired executive functions alone correlated with performance on several spatio-temporal gait analysis parameters. | 31637587 | 2020 | ||||
|
0.070 | Biomarker | phenotype | BEFREE | Three paediatric neurologists independently assessed videotaped motor behaviour phenotypically and quantitatively (using the Scale for Assessment and Rating of Ataxia [SARA]). | 31529709 | 2020 | ||||
|
0.070 | Biomarker | phenotype | BEFREE | A cohort of 100 subjects (N = 18-21 in each SCA group, including premanifest mutation carriers; mean score on the Scale for the Assessment and Rating of Ataxia [SARA] <10 for all genotypes, and 22 matched controls) was scanned at 7 Tesla to obtain neurochemical profiles of the cerebellum and brainstem. | 29575033 | 2018 | ||||
|
0.070 | Biomarker | phenotype | BEFREE | We determined the severity of ataxia clinically (SARA score) and the pattern of cerebellar involvement by neuroimaging (MRI volumetry and MR spectroscopy). | 29427835 | 2018 | ||||
|
0.070 | Biomarker | phenotype | BEFREE | ICC values were similar in both EOA subgroups of 'core' and 'comorbid' ataxia (0.92-0.99; ICARS, SARA, and BARS). | 27767206 | 2017 | ||||
|
0.070 | AlteredExpression | phenotype | BEFREE | Rater-blinded clinical assessment (Scale for the Assessment and Rating of Ataxia; SARA), individual goal-attainment scoring (GAS), and quantitative movement analysis were performed two weeks before training, immediately prior to training, and after training phases 1 and 2 (intra-individual control design). | 28365204 | 2017 | ||||
|
0.070 | Biomarker | phenotype | BEFREE | Clinical evaluation was done with the ataxia scales SARA and NESSCA. | 22090366 | 2012 |