Expanding the spectrum of ATP1A3 related disorders: Continuum from alternating hemiplegia of childhood to rapid-onset dystonia parkinsonism?
Objective: To report clinical and molecular features of a family showing intrafamilial phenotypic diversity where a novel ATP1A3 mutation was found. Background: Originally there have…Alternating hemiplegia of childhood (AHC) as a new presentation of adenylate cyclase 5 (ADCY5)-mutation-associated disease
Objective: To expand and determine the clinical spectrum associated with mutations in the Adenylate Cyclase 5 gene (ADCY5). Background: Recently, mutations in the ADCY5 gene…Dopamine D3 receptor Ser9Gly variant is a risk factor for impulse control disorders in Parkinson’s disease
Objective: To test if the allelic variants of dopamine (DRD3), glutamate (GRIN2B) and serotonin (HTR2A) receptors are risk factors for ipulse control disorders (ICD) in…Inhibition of the mitochondrial calcium uniporter (MCU) rescues dopaminergic neurons in pink1-/- zebrafish
Objective: To further elucidate the interaction between mitochondrial calcium homeostasis and PINK1 deficiency in a zebrafish (Danio rerio) model of Parkinson's disease (PD). Background: Loss…Systematic review of autosomal recessive parkinsonism using the MDGene database protocol
Objective: A systematic review of autosomal recessive parkinsonism using DJ-1 as an example. Background: MDGene is a genotype-phenotype database for rare mutations in movement disorders…Two cases of parkinsonism with atypical genetics
Objective: To report and discuss two unrelated patients carrying heterozygous mutations in both Parkin (PARK2) and Glucocerebrosidase (GBA) gene, with atypical Parkinsonian features. Background: Parkin…Same cerebellar atrophy pattern in hyper- and hypokinetic movement disorders due to mitochondrial cytopathy
Objective: To describe the prevalence and phenotype of movement disorders (MDs) in patients with mitochondrial cytopathy (MC) and corresponding pattern of cerebral atrophy. Background: MCs…Polyethylenimine (PEI) nanoparticle-mediated delivery of siRNA to silence neuronal gene expression of alpha-synuclein in a mouse model of Parkinson’s disease
Objective: To develop novel therapeutic strategies for movement disorders by interfering with neuronal gene expression, PEI nanoparticle-mediated delivery of RNA was investigated in vivo. Background:…The correlation between N30 SEP and motor function in Parkinson’s disease
Objective: To investigate frontal N30 in Parkinson's disease (PD), and to examine the correlation between amplitude of frontal N30 and the degree of motor deficits.…Postural and nonmotor disturbances in Parkinson’s disease
Objective: To investigate postural impairments (PI) and their interrelation with non-motor symptoms in patients with Parkinson's disease (PD). Background: PI mechanisms are only partially known.…
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