Kufor-Rakeb Syndrome with prominent dystonia and new mutations in ATP13A2 gene in two siblings
Objective: To describe new genetic mutations and unusual clinical findings in two siblings with Kufor Rakeb syndrome, an autosomal recessive etiology of parkinsonism. Background: Kufor-Rakeb…Increased Parkin expression in a PARK20 (SYNJ1 mutation) iPSCs-based model
Objective: To generate mechanistic insight into how the SYNJ1 p.Arg258Gln mutation leads to neurodegeneration in juvenile Parkinsonism. Background: In humans, the SYNJ1 homozygous p.Arg258Gln missense…LRRK2 and GBA genetic mutations are not uncommon in an unselected Ashkenazi elderly cohort with PD
Objective: Analysis of positive LRRK2 and GBA gene mutations, demographic characteristics, and family history in 1200 consecutive Ashkenazi patients with PD who had genetic testing…Association analysis of miRNA-linked variants with Parkinson’s disease and multiple system atrophy in a large Chinese population
Objective: To explore the relationship between two miRNA-linked variants (SPPLB rs1128402 and PDXK rs2070535) and two neurodegenerative diseases (PD and MSA) in a large Chinese…LRRK2 p.Leu119Pro and p.Leu488Pro in a family with neuropathologycally confirmed Parkinson´s disease without Lewy bodies
Objective: To describe the clinical features, genetic analysis and brain pathology of some members of a family affected by Parkinson´s disease. Background: Mutations of the…Presynaptic dopamine depletion determines the timing of levodopa-induced dyskinesia onset in Parkinson’s disease
Objective: To investigated whether dopaminergic function in the nigrostriatal system is associated with the timing of levodopa-induced dyskinesia (LID) onset in Parkinson's disease (PD). Background:…Altered connectivity in ventral and dorsal attentional networks in patients with Parkinson’s disease: Association with freezing of gait
Objective: To examine the changes in connectivity of the attentional networks in Parkinson's disease (PD) and their role in freezing of gait (FOG). Background: Deficits…Combining PET imaging and blood metabolomics data to improve machine learning models for Parkinson’s disease diagnosis
Objective: To investigate whether the integration of PET imaging and metabolomics data can provide improved machine learning models for PD diagnosis. Background: The reliable diagnosis…Higher motor cortex connectivity with subthalamic stimulation than with levodopa: A resting state fMRI study in Parkinson’s disease
Objective: To perform a direct comparison between the effect of levodopa medication and deep brain stimulation of the subthalamic nucleus (STN DBS) on functional brain…Paraneoplastic and neuronal surface antibodies in Parkinson’s disease and atypical parkinsonian disorders
Objective: To investigate the prevalence of paraneoplastic and antineuronal antibodies in the serum and cerebrospinal fluid (CSF) from patients with Parkinson´s disease (PD) and atypical…
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