Discrimination of alpha-synuclein strains and sub-strains in Synucleinopathies
Objective: To differentiate and characterize alpha-synuclein strains and sub-strains associated with synucleinopathies. Background: Synucleinopathies are a diverse group of neurodegenerative diseases characterized by misfolding aggregation…Parkinson’s disease patients at Hoehn and Yahr stage 1 show deficits in reactive but not proactive inhibitory control
Objective: We wanted to assess whether i) Parkinson’s disease (PD) patients at Hoehn and Yahr (HY) stage 1 show a global or a selective impairment…Baseline Predictors of Constipation and Probable Rapid Eye Movement Sleep Behavior Disorder (pRBD) for Cognitive Impairment After 5 Years of Parkinson’s Disease (PD) Diagnosis in the Parkinson’s Progression Markers Initiative Cohort (PPMI)
Objective: Cognitive impairment is linked to morbidity and mortality in patients with PD, this study aims to investigate whether the presence of constipation and RBD…What can tell us Non-Motor Symptoms about Cognition and Gait in the Early Stage of PD Patients
Objective: To describe the motor, cognitive and non-motor profiles in the early stage of PD using eMotion Kinect system, Moca Test and PD-CRS. Background: The…Does age at onset of Parkinson’s disease affect the development of dementia?
Objective: To investigate whether progression to dementia in senile Parkinson’s disease, SPD, (disease onset after 70 years) differs from that in old Parkinson’s disease, OPD,…Cognitive profiling of patients with neurodegenerative disorders
Objective: To characterise the cognitive decline of patients with neurodegenerative disorders: Parkinson’s disease (PD), Alzheimer's disease (AD) and essential tremor (ET) and to compare their neuropsychological…Optic atrophy and parkinsonism in a family associated with OPA1 mutation
Objective: To report a Taiwanese family with a heterozygous missense mutation of OPA1 gene (NM_130836, p.Ser582Arg) presenting with optic atrophy and parkinsonism and establish an…Characterizing the genetic architecture of Parkinson’s disease in Latinos
Objective: By performing the first genome-wide association study (GWAS) of Parkinson’s disease (PD) in Latinos, we seek to interrogate the genetic architecture of PD in…LRRK2 p.G2019S and p.N2081D variants as modifiers of glucocerebrosidase activity
Objective: To examine whether the activity of the lysosomal enzyme glucocerebrosidase (GCase) is associated with LRRK2 variants. Background: Mutations in GBA (which encodes GCase) and…GCH1 variants contribute to risk and earlier age at onset in Parkinson’s disease
Objective: Our aim was to identify the potential role of known genetic components of GCH1, including rare and common variants in coding and non-coding regions,…
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