Genotype-Phenotype Relations in Neurodegeneration with Brain Iron Accumulation (NBIA) Genes: MDSGene Systematic Review
Objective: To provide a comprehensive review of individual-level data and genotype-phenotype relationships for genes implicated in neurodegeneration with brain iron accumulation (NBIA) disorders. Background: The…Examining the Impact of a Single Session of Myofascial Release via Dry Needling on Step Length in Individuals with Parkinson’s Disease
Objective: This study aims to elucidate the impact of a singular myofascial release session employing Dry Needling (DN) on step length within a complete gait…Prevalence and Comorbidities of Orthostatic Hypotension in Older Adults: A Two-Year Study
Objective: To determine the prevalence of OH and its associations with autonomic dysfunction, falls, and mortality. Background: Orthostatic hypotension (OH) is a common problem that…The Role of Mitochondrial DNA Haplogroups in determining the Age of Onset in Indian SCA2 Patients.
Objective: To investigate the contribution of mitochondrial DNA (mtDNA) haplogroups to the age at onset (AO) of Spinocerebellar Ataxia type 2 (SCA2) in Indian patients,…Spinocerebellar Ataxia Type 17 First Reported Case in Northern Mexico
Objective: To report the first documented case of spinocerebellar ataxia type 17 (SCA17) in northern Mexico. Background: SCA17 is an autosomal dominant neurodegenerative disorder caused…Brain Structural Impairment in Spinocerebellar Ataxia Type 6: Not Restricted to the Cerebellum
Objective: To characterize the structural brain signature in SCA6 patients. Background: Spinocerebellar ataxias (SCA) refer to a group of autosomal dominant ataxic disorders that result…The FGF14-SCA27B GAA•TTC Repeat Shows Marked Somatic Expansion in the Cerebellum
Objective: To characterize somatic instability and molecular mechanisms of the FGF14 GAA•TTC repeat across serial blood samples, fibroblasts, induced pluripotent stem cells (iPSCs), and post-mortem brains. Background: Spinocerebellar…Correlations of plasma glial fibrillary acidic protein levels with glymphatic system impairment in Huntington’s disease
Objective: To investigate whether plasma glial fibrillary acidic protein (GFAP) levels are related to glymphatic system function in Huntington's disease (HD). Background: Plasma GFAP levels has…Outcomes of invasive stereotactic thalamotomy using dentatorubrothalamic tractography targeting for patients with drug refractory tremor
Objective: The purpose of this study was to determine whether tremor reduces in patients after stereotactic thalamotomy using tractography targeting the dentatorubrothalamic (DRT) tract. Background:…Efficacy and Safety of Dual-Target Transcranial Magnetic Stimulation in Essential Tremor: A Phase 2 Randomized, Controlled, Patient-Assessor blinded Trial
Objective: To investigate the efficacy and safety of transcranial magnetic stimulation (TMS) by combined cortical and cerebellar as dual-target in the treatment of essential tremor…
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