Dual Pathways of Holmes Tremor Suggested from the Experience of Deep Brain Stimulation
Objective: To explore the pathways related with Holmes tremor, we evaluated the tremor suppression effect of deep brain stimulation (DBS), with the diffusion tensor imaging…Immunoproteasome subunits as emerging contributors to neurodegeneration in Parkinson’s Disease
Objective: To gain comprehensive contribution of immunoproteasome in central nervous system of Parkinson's Disease Background: Recent investigations have elucidated that, in addition to the classical…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,…Relationship Between Non-Motor Symptoms, Kinematic Features, and Quality of Life in Cervical Dystonia
Objective: To assess the extent of non-motor symptoms (NMS) in Cervical Dystonia (CD) and investigate the interaction between NMS, kinematic metrics of motor severity, and…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:…Cortical response to proprioceptive stimulation in orthostatic tremor – a magnetoencephalography study
Objective: To investigate cortical integration of proprioceptive information in patients with orthostatic tremor (OT), measured as event-related synchronisation (ERS) response to proprioceptive stimulation using magnetencephalography…Axial Tremor does not correlate with Poor Balance in Essential Tremor
Objective: To explore the correlation between the severity of axial tremor and balance disorder in Essential Tremor (ET). Background: ET is a heterogeneous disorder and…Genetic Variant in the VPS16 Gene in a 44-year-old Patient with Generalized Dystonia
Objective: To report a case of generalized dystonia with a genetic variant in VPS16 gene, possibly related to AD dystonia 30. Background: Dystonia is characterized…Investigating the pathogenesis of GBA1-associated Parkinson’s disease using GBA1 isogenic iPSC lines
Objective: We aim to explore the pathogenesis of GBA1-associated synucleinopathies and discern the gain- vs. loss-of-function hypotheses by genetically engineering GBA1 in an iPSC line derived…Sphingomyelinase Activity in Patients with Sporadic Parkinson’s Disease
Objective: To measure the sphingomyelinase (ASMase) activity in sporadic PD patients and matched healthy controls and identify any clinical or biological correlation with disease’s severity.To…
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