Longitudinal Measurements of Glucocerebrosidase activity in Parkinson’s patients and controls: the PPMI study
Objective: To test the correlations between longitudinal measurements of glucocerebrosidase (GCase; encoded by GBA) enzymatic activity and Parkinson’s disease (PD) phenotype in the Parkinson’s Progression…Northwestern University Feinberg School of Medicine Parkinson’s disease and Movement Disorders Center Biorepository: bringing the clinic and lab together
Objective: To establish a biobank of DNA and tissue samples from a population of movement disorder patients, their family members and healthy controls recruited from…Association between SNCA and clinical phenotypes of Parkinson’s disease in southern Chinese
Objective: The aim was to investigate the association between SNCA and clinical phenotypes of Parkinson’s disease (PD) in southern Chinese. Background: SNCA gene plays an…SNPs in SNCA, MCCC1, DLG2, GBF1, and MBNL2 are associated with Parkinson’s disease in southern Chinese populations
Objective: This study aimed to replicate the relationship between 12 novel SNPs of 12 genes and PD risk in southern Chinese populations. Background: Numerous single-nucleotide polymorphisms (SNPs), which have…Early onset parkinsonism and optic atrophy due to SLC25A46 mutations
Objective: To define the genetic background of a case affected by parkinsonism with optic atrophy. Background: Mutations in SLC25A46 have been recently described as causative…Tremor and parkinsonism in Chromosomopathies – a systematic review
Objective: To review the co-occurrence of parkinsonism and tremor syndromes in patients with chromosomic disorders. Background: The landscape of genetic forms of Parkinson’s diseases (PD)…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…Hereditary and geneological aspects of Parkinson’s disease and essential tremor in people of Uzbek nationality
Objective: To study the genealogic features of Parkinson’s disease and essential tremor in people of Uzbek nationality. Background: Parkinson's disease (PD) and essential tremor (ET)…Comorbid Parkinson’s disease in a Korean patient with Alexander’s disease
Objective: We report a unique case of genetically diagnosed Alexander's disease comorbid, with clinically diagnosed Parkinson's disease. Background: Alexander disease is a neurological disease, that causes…Amylin single-nucleotide polymorphism and Parkinson’s disease
Objective: The objective of this study was to evaluate if a single nucleotide polymorphism (SNP) in the amylin sequence is present in patients with Parkinson’s…