LRP10 variants and Parkinson’s disease in the Chinese population
Objective: LRP10 variants have recently been identified in individuals with familial Parkinson's disease (PD) and dementia with Lewy bodies. We aim to investigate if any…Mechanism-based classification in PD cohorts
Objective: To stratify Parkinson’s disease (PD) patients based on key molecular mechanisms by using a genomic-based approach. Background: PD is a complex neurodegenerative disease involving…Alpha-synuclein promoter (SNCA-Rep1) polymorphism is associated with non-motor symptoms in early Parkinson’s disease
Objective: We sought to investigate the relationship between SNCA Rep1 allele length and NMS in PD. Background: Associations between the alpha-synuclein gene (SNCA) promoter region…Novel p.Pro193Arg missense mutation in ABCD1-gene associated with phenotype of ALD/AMN: a case report
Objective: To describe a novel mutation p.Pro193Arg of the ABCD1-Gene in a patient presenting with clinical phenotype of Adrenomyeloneuropathy (AMN). Background: Adrenoleukodystrophy comprises progressive neurologic…The longevity gene Klotho and its CSF protein profiles as modifier for Parkinson´s disease in a longitudinal study
Objective: Our objective was to evaluate phenotype modifying effects of variants in longevity genes in PD. Background: Parkinson´s disease (PD) has a large phenotypic variability,…Temporal Emergence of Symptoms and Functional Impairments in Patients With Pantothenate Kinase-Associated Neurodegeneration (PKAN)
Objective: To describe the temporal emergence of PKAN symptoms and functional impairments across the spectrum of PKAN severity. Background: PKAN, an autosomal recessive, progressive neurodegenerative…Case report: Chorea-acynthocytosis with two compoud heterozygous VPS13A large deletions
Objective: We report a 33 year old male patient without functional protein due to compound heterozygosity for VPS13A deletions and discuss the molecular diagnostic difficulties…The effect of ATP13A2/PARK9 levels on a-syn spreading in mice brains
Objective: The purpose of this study is to analyze the effect of ATP13A2/PARK9-mediated a-syn secretion on a-syn spreading in mice. Background: Recent studies with cell…Longitudinal analysis of the modified Hoehn and Yahr disease stage in PD-1101, a Phase 1b clinical study of VY-AADC01
Objective: To describe changes over the first year in disease severity and activities of daily living using modified Hoehn and Yahr (mH&Y) stage and UPDRS…Social Network for the diagnosis of RLS
Objective: Identify patients with RLS using social media, describe time of evolution, previous diagnosis, treatment, symptoms severity and quality of life perception. Background: RLS is a…
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