Deep Brain Stimulation of bilateral ventral intermediate nucleus in a patient with spinocerebellar ataxia type 12
Objective: To treat the medication-resistant tremor of SCA12 by Deep brain stimulation (DBS) Background: Action tremor might be the most prominent feature of SCA12 patient…Expanding the Phenotype of a Novel Mutation in ELOVL4 and the Differential Diagnosis of the Hot Cross Bun Sign
Objective: To describe the clinical and radiological characteristics of three independent families affected by SCA 34 due to a recently identified mutation in ELOVL4. Background:…iPSC-Based Modeling of SCA12 for Targeted Therapeutic Screening
Objective: 1. To identify a cohort of genetically confirmed SCA12 patients of Indian origin, derive iPSCs, progenitor cells and neurons from peripheral blood samples2. To…Atypical spinocerebellar ataxia (SCA) type 16 as initial presenting migraine and mild ataxia with cerebellar atrophy
Objective: Our aim is to report an atypical case of initial manifestation of spinocerebellar ataxia type 16, which showed migraine and mild ataxia with cerebellar…Spinocerebellar Ataxia 34: ELOVL4 Recurrent Mutation in a Different Family
Objective: We present a rare case of Spinocerebellar Ataxia 34 (SCA 34) in a Vietnamese patient. Background: SCA 34 is a subtype of Spinocerebellar Ataxia…Transcranial Direct Current Stimulation and Neurofunctional Physical Therapy Improves Motor and Cognitive Symptoms in a Patient with Type 1 Spinocerebellar Ataxia – A Case Report
Objective: The aim of this research was to develop and verify the effects of a Non-Invasive Neuromodulation protocol associated with Neurofunctional Physiotherapy on motor functions,…White Matter Tractography in Spinocerebellar Ataxia type 1 and 2 in comparison with Healthy Controls
Objective: To assess and quantify microstructural white matter atrophy in brain of spinocerebellar ataxia (SCA) types SCA1 and SCA2 patients in comparison with healthy subjects.…Non Classified Spinocerebellar Ataxia-like Syndrome due to GYG-1 gene mutation with TPM3, GEMIN5 and DES mutations in a Peruvian family
Objective: To report a GYG1 mutation in a Peruvian family presenting as a non classified Spinocerebellar Ataxia (SCA) with added GEMIN5, DES and TPM3 mutations.…Reticulospinal tract integrity in patients with SCA12 having impairment of Corticospinal tract- a clinical and electrophysiological study
Objective: Estimate the Reticulospinal tract (RST) activity using StartReact paradigm in patients of SCA12 with clinical and electrophysiological evidence of compromised corticospinal tract (CST) integrity. Background: Spinocerebellar…Reaching kinematics in patients with Spinocerebellar Ataxia Type 12 using a markerless motion tracking system
Objective: In the current study, we compared the kinematics of planar reaching movements between patients with Spinocerebellar Ataxia Type 12 (SCA12) and healthy control using…
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