Transcriptional profiling of peripheral blood monocytes from child Friedreich’s ataxia patient: New molecules and patterns of gene expression
Objective: To explore peripheral biomarkers related to Friedreich's ataxia and identification of pathophysiological insights of complex phenotype Background: Friedreich's ataxia(FRDA) causes nervous system damage and…Pathophysiologic insights into ataxia and spasticity through structural imaging of a spinocerebellar ataxia type 7 (SCA7) cohort
Objective: Correlate clinical measures of ataxia and spasticity in a SCA7 cohort with the pattern and severity of atrophy of grey matter (GM) and white…Prof. Wadia’s contributions to neurology and SCA2
Objective: To present a review of the seminal contributions of Professor Wadia to neurology, in particular the first description of SCA2. Background: Spinocerebellar ataxia type…Focused neuromodulation by short pulse width improves gait ataxia in thalamic DBS
Objective: To investigate the efficacy of selective neuromodulation to overcome stimulation-induced gait ataxia in patients with essential tremor (ET) and thalamic deep brain stimulation (DBS).…Comparison of the effect of thalamic DBS/coagulation on tremor and thalamic neuronal activity in spinocerebellar ataxia and essential tremor
Objective: To investigate the effects of deep brain stimulation (DBS) or lesions of the ventral intermediate nucleus (Vim) of the thalamus for spinocerebellar ataxia (SCA)…Ataxia-Teleangiectasia-Mutated-Knock-Out mouse cerebellum shows significant reduction of calcium homeostasis factors
Objective: We aimed to identify sensitive and specific molecular markers of the cerebellar Purkinje neuron loss in Ataxia Teleangiectasia. Background: Ataxia teleangiectasia is an autosomal…TANDEM REPEATS BEYOND THE CLINICAL DIAGNOSIS IN ADCAs
Objective: To present observations on abnormal expansion in both allele in ADCAs. Background: Use of expansion in tandem repeats is restricted to only disease diagnosis…Spinocerebellar Ataxia type 11 in a Hispanic Kindred
Objective: To present the clinical profiles of two siblings with SCA11 who are of Hispanic origin. Background: Spinocerebellar ataxia type 11 (SCA11) is an autosomal…Ataxic gait in subjects with essential tremor and thalamic neurostimulation is caused by posteromedial current spread in the (sub)thalamic area
Objective: We aimed to disentangle a putative role of bilateral thalamic DBS in developing gait-ataxia in subjects with ET. Background: In ET patients with DBS,…Modelling spinocerebellar ataxia 15 with iPS cell derived neurons
Objective: Here we set out to study the cellular pathology of ITPR1-deletions underlying SCA15 in a human model of iPSC-derived cortical neurons. Background: Spinocerebellar Ataxia…
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