Genomes and Genes
Matthew James Farrer
Affiliation: Mayo Clinic
- Glucosidase-beta variations and Lewy body disordersMatthew J Farrer
Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA
Parkinsonism Relat Disord 15:414-6. 2009..0 (95% CI: 0.3-29, p=0.3). All three affected carriers were classified as diffuse Lewy body disease (n=3/50; 6%). Our study suggests glucosidase-beta variants have a limited role in susceptibility to Lewy body disease in North America...
- In vivo silencing of alpha-synuclein using naked siRNAJada Lewis
Department of Neuroscience, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, USA
Mol Neurodegener 3:19. 2008..Genetic variability in SNCA contributes to risk of idiopathic Parkinson's disease (PD), possibly as a result of overexpression. SNCA downregulation is therefore a valid therapeutic target for PD...
- Genetic association study of synphilin-1 in idiopathic Parkinson's diseaseRonny Myhre
Department of Laboratory Medicine, Children s and Women s Health, Norwegian University of Science and Technology, Trondheim, Norway
BMC Med Genet 9:19. 2008..In the present study, we have investigated whether common variability in synphilin-1, including coding substitutions are genetically associated with disease pathogenesis...
- Comparison of kindreds with parkinsonism and alpha-synuclein genomic multiplicationsMatt Farrer
Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, FL 32224, USA
Ann Neurol 55:174-9. 2004..The profound implications of alpha-synuclein overexpression for idiopathic synucleinopathies are discussed...
- LRRK2 mutations in Parkinson diseaseM Farrer
Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL 32224, USA
Neurology 65:738-40. 2005..Thus LRRK2 mutations only rarely cause idiopathic PD...
- Genetics of Parkinson disease: paradigm shifts and future prospectsMatthew James Farrer
Morris K Udall Parkinsons Disease Research Center of Excellence, Birdsall Building, Mayo Clinic, Department of Neuroscience, 4500 San Pablo Road, Jacksonville, Florida 32224, USA
Nat Rev Genet 7:306-18. 2006..Neuroprotective therapies can now be designed to slow or halt disease progression in affected subjects and asymptomatic carriers...
- DCTN1 mutations in Perry syndromeMatthew J Farrer
Division of Neurogenetics, Department of Neuroscience, Mayo Clinic Florida, Jacksonville, Florida 32224, USA
Nat Genet 41:163-5. 2009..Our findings show that DCTN1 mutations, previously associated with motor neuron disease, can underlie the selective vulnerability of other neuronal populations in distinct neurodegenerative disorders...
- Mapping a Gene for Parkinsons Disease in NorwayMatthew Farrer; Fiscal Year: 2005..We will explore the utility of haplotype tagging (htSNPs) to capture disease-association (Aim 3). Identification of the PD-susceptibility gene will be confirmed in US samples and functionally assessed. ..
- Genetic Analysis of Tau H1 in ParkinsonismMatthew Farrer; Fiscal Year: 2006..abstract_text> ..