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Novel Twinkle (PE01) gene mutations in mendelian progressive external ophthalmoplegia
(2008)
Multiple deletions of mitochondrial DNA (mtDNA) are associated with different mitochondrial disorders inherited as autosomal dominant and recessive traits. Causative mutations have been found in five genes, mainly involved ...
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 ...
Genetic and molecular pathogenesis of Parkinson's disease
(2006)
Parkinson's disease (PD), a common progressive degenerative disease of the central nervous system, affects about 1% of adults aged older than 60 years. PD is characterized by rigidity, tremor, postural instability and ...
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) ...
Testing association between LRRK2 and Parkinson's disease and investigating linkage disequilibrium
(2006)
Background: We and others recently identified the gene underlying PARK8 linked Parkinson's disease (PD). This gene, LRRK2, contains mutations that cause an autosomal dominant PD, including a mutation, G2019S, which is the ...
A new mitochondrial DNA mutation in ND3 gene causing severe Leigh syndrome with early lethality
(2004)
We describe a new mitochondrial DNA mutation in a male infant who presented clinical and magnetic resonance imaging features of Leigh syndrome and died at the age of 9 mo. The patient's development was reportedly normal ...