Autosomal recessive cerebellar ataxias: a Tunisian cohort of 168 patients
Objective: The aim of our study is to describe epidemiological, clinical and paraclinical features of the different autosomal recessive cerebellar ataxias (ARCA) identified in our…A better understanding of Paediatric Paroxysmal Movement Disorders
Objective: To clinically characterise paroxysmal movement disorders (PxMD) and determine prevalence in a paediatric population for the first time. Background: Characterised by episodic involuntary movements,…ATP8A2 Mutation in a Tunisian Family : Expanding The Clinical Spectrum
Objective: Our aim was to report the clinical and paraclinical findings from two siblings who presented with a new phenotype of ATP8A2 gene mutation. Background:…Electrophysiological study of 122 Tunisian patients with autosomal recessive cerebellar ataxia
Objective: We aim through this study to describe the electrophysiological features of the different Autosomal recessive cerebellar ataxias (ARCA) in our population in order to…Alterations in the Daily Living Gait and Mobility during the Day and Night among Individuals with Cerebellar Ataxia, SCA3: An Exploratory Study
Objective: In this pilot study, we aimed to examine step counts and daily living physical activity, confirm findings regarding gait variability, explore changes in nighttime…Nonmotor symptoms in Spinocerebellar ataxia type 12 (SCA 12)
Objective: To find the frequency and extent of depression, autonomic disturbances, and cognitive impairment in patients with SCA12 and exploring its association with motor symptoms…Predicting Disease Severity in Friedreich’s Ataxia through Wearable Monitoring and Machine Learning.
Objective: Develop and validate a wearable-based solution for tracking motor function in Friedreich ataxia (FRDA). Background: FRDA is an autosomal recessive neurodegenerative disorder causing progressive…Spinocerebellar Ataxia Type 49 presenting with Early onset Dystonia-Ataxia in an Indian Female
Objective: To report the first Indian patient with SCA 49 who presented in the second decade and to expand the clinical phenotype to include dystonic…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:…Analgesic effect of electroacupuncture on Relieving pain in Parkinson’s disease and the mechanism based on rs-fMRI
Objective: To investigate whether electroacupuncture (EA) on the primary motor cortex could reduce pain in patients with PD and to explore the mechanism behind its…
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