Optimal measuring height and validation of 2D-LiDAR based analysis system for spatiotemporal gait parameters
Objective: This study aims to validate a 2D light detection and ranging (LiDAR) based gait analysis system with a reference system. In addition, the optimal…eHealth – an Opportunity for personalized Care? – Healthcare Professionals’ Technology Acceptance in the Care of Parkinson’s Patients
Objective: To examine how eHealth may improve personalized care for people with Parkinson's disease (PwPD) from the perspective of healthcare professionals (HCPs). Background: Parkinson's disease…How does the PPP2R2B mutation alter neuronal cytoskeletal structure in SCA12
Objective: To study the effect of the PPP2R2B mutation on human induced pluripotent stem cell (iPSC) derived neurons in SCA12 patients. Background: SCA12 is an…Pulmonary Dysfunction in Friedreich’s Ataxia (FRDA)
Objective: We sought to characterize pulmonary function in FRDA and identify disease variables that may contribute to dysfunction. Background: FRDA is a neurodegenerative disease that causes…Substantia Nigra Degeneration In Spinocerebellar Ataxia 2 And 7 Using Neuromelanin-Sensitive Imaging
Objective: To assess substantia nigra pars compacta (SN) degeneration in SCA type 2 and 7 using neuromelanin-sensitive MRI Background: Spinocerebellar ataxias (SCA) are often associated…Clinico-radiological and genetic profile of patients with Ataxia with Oculomotor apraxia type-2 (AOA2)- A case series from India
Objective: To delineate clinical, radiological and genetic profile of patients with ataxia with oculomotor apraxia type-2 (AOA2) in Indian cohort. Background: AOA2 is a relatively…A study on the phenomenological analysis of Spinocerebellar Ataxia type 12 revealing a dystonic imprint
Objective: To assess the presence and distribution of dystonia in spinocerebellar ataxia type 12 (SCA12). Background: SCA12, commonly seen in the Agarwal community in India,…Chorea Acanthocytosis Misdiagnosed as Functional Movement Disorder
Objective: To highlight the importance of genetic testing when the clinical symptoms of Chorea Acanthocytosis (ChAc) are misdiagnosed as functional movement disorder (FMD). Background: ChAc…Motor and Quality of Life Outcomes of Deep Brain Stimulation for Pediatric Dystonia – CHILD-DBS Registry
Objective: To evaluate the motor and quality of life (QoL) outcomes of deep brain stimulation for pediatric dystonia with the following parameters: BFMDRS, total number…Intrafamilial phenotypic variability of DYT-ANO3: Analyzing 14 affected members with a novel variant
Objective: Delineation of phenotypic diversity of DYT-ANO3 in a large tribal family of Indian origin. Background: DYT-ANO3 (DYT24) is a rare cause of autosomal dominant…
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