Expanding the services of Neurogenetic Clinic – Lessons learnt from Cerebellar Ataxia cohort
Objective: We present an overview of patients seen by our Neurogenetic Clinic since 2019, focusing on the cerebellar ataxia (CA) cohort. Background: Diagnostic yield of…Therapies, Research Funding and Racial Diversity in Cerebellar Ataxia: A Systematic Review of the Literature
Objective: To understand the scope of clinical research in cerebellar ataxia by performing a systematic review of controlled clinical trials over the past 50 years,…Machine learning-based classification of SCA1, SCA2, and Healthy controls using graph features
Objective: To differentiate genetic variants of spinocerebellar ataxia (SCA1 and SCA2) and healthy controls using machine learning on resting-state functional Magnetic Resonance Imaging graph features.…Analyzing gait videos to identify and evaluate spinocerebellar ataxia types 1 and 3
Objective: To analyze videos of gait to: 1) identify spinocerebellar ataxia types 1 and 3, and 2) predict scores on the gait task section of…Spinocerebellar Ataxia Type 5: an Unusual Infantile Onset with Development Delay
Objective: Spinocerebellar Ataxia Type 5 (SCA5) is an uncommon cause of cerebellar ataxia with onset generally within the third and the fourth decade and a…Electrophysiology and clinical description of Tremor in Spinocerebellar Ataxia 12 (SCA12)
Objective: To describe the clinical and electrophysiological characteristics of tremor in SCA12. Background: There is scarcity of literature on tremor of SCA12 patients which is…Unravelling Hidden Mutations Behind the Heterozygos SYNE1 Genotype
Objective: To present case series of four patients of heterozygous for SYNE1 mutation with phenotype consistent with cerebellar ataxia. Background: Recessive cerebellar ataxias are defined as disorders with autosomal recessive…Diagnostic yield for point mutation related SCAs through exome sequencing for undetermined ataxias
Objective: To describe the diagnostic yield of whole exome sequencing (WES) to identify autosomal dominant spinocerebellar ataxias (SCAs) caused by point mutations. Background: There are…Role of resting-state fMRI-based brain network modularity in differentiating SCA1 and SCA2
Objective: To ascertain the role of resting-state functional MRI (rsfMRI)-based modularity in differentiating spinocerebellar ataxia type 1 (SCA1) and spinocerebellar ataxia type 2 (SCA2). Background:…CerebNet: Deep learning cerebellar subsegmentation for fast and reliable atrophy quantification
Objective: Establish a fast and reliable automatic tool for cerebellar subsegmentation. Background: Quantifying the volume of the cerebellum and its lobes is of profound interest…
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