ATP1A3-related disorder overlapping syndrome: a case report
Objective: The phenotypic spectrum in dystonic syndromes in ATP1A3-related disorders is wide. History of drug-refractory seizures, developemental delay, incoordination, dysarthria and dysphagia and movement disorders…Lysosomal network defects in parkinsonian patients carrying rare variants in lysosomal hydrolytic enzyme genes
Objective: Functional validation of rare variants of lysosomal genes potentially associated with early onset Parkinson's disease (EOPD) Background: The genetic load in EOPD is high;…Increased alpha-internexin levels are associated with a higher risk of Parkinson’s disease
Objective: This study aims to evaluate the causal relationship between plasma alpha-internexin levels and the risk of Parkinson’s disease (PD). Background: Alpha-internexin, implicated in neuronal…Contribution of Genetics to Onset of PD with Leg Tremor
Objective: To determine frequency and determinants of resting tremor in the leg as first motor symptom in Parkinson Disease (PD), especially as related to age…Readiness for genetic testing among Indian movement disorder patients:A tertiary centre experience
Objective: To assess knowledge & attitude of Indian patients with movement disorders and their caregivers to understand their readiness for genetic testing. Background: Genetic testing…GBA Mutation Profile in Parkinson’s Disease: Insights from a Movement Disorders Center in Brazil
Objective: To identify the prevalence of pathogenic variants of the GBA1 mutation among patients with parkinsonism who have undergone genetic testing. Background: GBA gene encodes…The NINDS Approach to Therapeutic Development for Ultra-Rare Neurological Disorders, Bridging Translational and Clinical Frontiers in Gene-based Therapy
Objective: To establish an innovative process for fast and efficient pathways of delivering gene-based therapy for ultra-rare neurological disorders from the lab to the clinic…SLC39A8-CDG with manganese deficiency in an adult individual: a case report
Objective: To report the case of an adult male with SLC39A8-CDG and evaluate the effects of manganese supplementation on clinical evolution of the patient. Background:…Understanding diffusion in extracellular space in synucleinopathy
Objective: To understand the extracellular space (ECS) diffusion in synucleinopathy. Background: The pathogenic mechanisms underlying synucleinopathies involve the spread and propagation of α-synuclein aggregates throughout…Abnormal Subthalamic Oscillations as Potential Biomarkers for Identifying the Dyskinesia-Inducing Region within the Subthalamic Nucleus in Parkinson’s Disease
Objective: To investigate the characteristics of local field potentials (LFPs) associated with the STN region that elicit stimulation-induced dyskinesia (SID) in PD patients. Background: Approximately 50%…
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