Factors influencing health-related quality of life of patients with spinocerebellar ataxia
Objective: The objective was to demonstrate the progression of HRQoL over time and identify factors affecting SCA patients' HRQoL. Background: Spinocerebellar ataxias (SCA) comprise a…Studies on mitochondrial dysfunction in the peripheral blood mononuclear cells in an ethnic Indian population of SCA 12 patients
Objective: We chose important mitochondrial genes such as ndufs5, tim22, fis1, dnm1l to understand the alterations in mitochondrial function in the peripheral blood mononuclear cells…Late onset cerebellar ataxia in patients treated with VIM DBS
Objective: To highlight the predictors for onset of cerebellar ataxia in patients treated with deep brain stimulation (DBS) of the Thalamic Ventral Intermediate Nucleus (VIM)…Generalized acute myoclonus caused by chikungunya virus encephalitis: case report.
Objective: Our goal is to describe a case of generalized acute myoclonus in a patient with Chikungunya virus (CHIKV) encephalitis. Background: There have been an…Idiopathic Intracranial Hypertension as the presenting symptom in Wilson’s Disease: how is it possible?
Objective: To report a patient with Wilson’s disease (WD) who became symptomatic shortly after presenting Idiopathic Intracranial Hypertension (HII). Background: WD’s pleomorphic clinical phenotype remains…Leading Therapeutic Molecules Target Transcription Factors Binding to Repressor Region in FXN Gene
Objective: To investigate interactions of transcription factors (TFs) binding to repressor region located upstream to FXN gene with leading therapeutic molecules. Background: Low levels of…Tullio phenomenon in CANVAS Syndrome
Objective: To describe Tullio phenomenon in a patient with CANVAS (cerebellar ataxia with neuropathy and vestibular areflexia syndrome). Background: CANVAS is a progressive ataxia syndrome…Two Different Clinical Presentations in SYNE1 Ataxia in Turkey
Objective: SYNE1 (Spectrin repeat-containing nuclear envelope protein 1) gene mutation, first diagnosed in French Canadians in 2007, is now reported from many regions around the…Clinical and Genetic spectrum of a series of congenital ataxias patients.
Objective: To describe the clinical and molecular findings of a well-defined group of 11 congenital ataxia patients from 12 different families assessed in an adult…Isolated ZIC4 antibody associated paraneoplastic cerebellar degeneration
Objective: Anti-ZIC4 antibodies have recently been associated with paraneoplastic cerebellar degeneration (PCD) and are usually associated with small cell carcinoma lung. However, most of the…
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