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Association between AKT1 gene and Parkinson's disease: A protective haplotype
(2008)
Variation in AKT1 has been associated with schizophrenia, bipolar disease and type 11 diabetes. The aim of the present study was to investigate the potential role of variability within AKT1 as a risk factor for Parkinson's ...
Protein misfolding in neurodegenerative diseases
(2004)
A common pathogenic mechanism shared by diverse neurodegenerative disorders, like Alzheimer's disease, Parkinson's disease, Huntington's disease and transmissible spongiform encephalopathies, may be altered protein homeostasis ...
Autoantibodies to alpha-synuclein in inherited Parkinson's disease
(2007)
Neurodegeneration in Parkinson's disease (PD) is accompanied by a local immune reaction in the affected brain regions. It is well established that alpha-synuclein is directly implicated in the pathogenesis of PD. Development ...
Screening for SNCA and LRRK2 mutations in Greek sporadic and autosomal dominant Parkinson's disease: identification of two novel LRRK2 variants
(2007)
Mutations in SNCA and LRRK2 genes, encoding alpha-synuclein and leucine-rich repeat kinase 2, respectively, cause autosomal dominant Parkinson's disease (AdPD). The LRRK2 G2019S (c.6055G > A) and R1441G (c.4321C > G) ...
BDNF tagging polymorphisms and haplotype analysis in sporadic Parkinson's disease in diverse ethnic groups
(2007)
Experimental and clinical data suggest that genetic variations in brain-derived neurotrophic factor (BDNF) gene may affect risk for Parkinson's disease (PD). We performed a case-control association analysis of BDNF in three ...
Genetic assessment of familial and early-onset Parkinson's disease in a Greek population
(2014)
Background and purpose Although the first mutation associated with Parkinson's disease (PD) was identified several years ago in the alpha-synuclein (SNCA) gene in families of Greek and Italian ancestry, a more systematic ...
Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations
(2000)
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder defined clinically by severe gastrointestinal dysmotility; cachexia; ptosis, ophthalmoparesis, or both; peripheral neuropathy; ...