Phenotypical Study of Progressive Myoclonic Epilepsy in Eastern Algeria
Objective: We aim to analyze phenotypical features of individuals from eastern Algeria having a PME phenotype followed in our center (Dr Benbadis University Hospital). Background:…Clinical and Genetic Profile of DYT-THAP1 in Asian Indian Patients
Objective: To describe the clinical and genetic profile of DYT-THAP1 in Asian Indian patients. Background: Variants in the thanatos-associated protein 1 (THAP1) gene are recognized…Delayed Diagnosis of Cervical Dystonia: A Case Report Highlighting the Importance of an on-time Specialist Evaluation
Objective: To present a case of cervical dystonia misdiagnosed as anxiety disorder for five years, emphasizing the critical need for timely recognition and appropriate treatment…Japanese family of dystonia related to GNAO1 pathogenic variant and systematic literature review
Objective: To present a young adolescent female with functional dystonia phenotype progressed to status dystonia/anarthria and mental confusion, even more molecular genetic of family members…Disrupted NOVA2-Mediated Splicing by (TTTCA) Repeat Expansion: Unveiling Aberrant Synaptic Gene Regulation in FCMTE1
Objective: This study aims to explore the possible pathogenic mechanisms of FCMTE1 from the perspectives of RNA toxicity and RNA binding protein. Background: FCMTE1 is characterized…White Matter and Subcortical Alterations in Focal Dystonia: A MRI Study of Subtype-Specific Brain Changes
Objective: To assess structural brain alterations in patients with cervical dystonia (CD) and focal upper limb dystonia (ULD) relative to healthy controls, using MRI exploratory…Phenotypic spectrum and response to deep brain stimulation (DBS) in patients with dystonia due to variants in the KMT2B gene: A description of six Chilean cases
Objective: This study aims to characterize the phenotypic spectrum and therapeutic responses to Deep Brain Stimulation (DBS) in Chilean patients diagnosed with dystonia due to…A Systematic Review of Motor Improvement Caused by Deep Brain Stimulation in Post-Stroke Movement Disorder Patients
Objective: Evaluate the effect of DBS on motor improvement in PSMD. Background: Post-stroke movement disorders (PSMD) impair motor function and quality of life. Traditional rehabilitation…Proactive Brain Health Alliance Serving Those at Risk for Neurodegenerative Disease
Objective: Research advancements enable earlier identification of neurodegenerative disease risk via prodromal symptoms and genetic and biomarker testing. Those in the “space between” risk and…Evaluating the Impact of Advocacy Efforts in Integrating Parkinson’s Disease into the Ethiopian Primary Healthcare System: Lessons from Parkinson’s Patients Support Organization Ethiopia (PPSO-E)
Objective: To evaluate the impact of advocacy efforts aimed at integrating Parkinson’s Disease (PD) into the Ethiopian primary healthcare guidelines. Background: The Parkinson’s Patients Support…
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