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Andrew Singleton
Clinical Instructor of Surgery (Fellow)
GNH 2051 Marengo Street Health Sciences Campus Los Angeles


Assessment of Parkinson's disease risk loci in Greece. Neurobiol Aging. 2014 Feb; 35(2):442. e9-442. e16. View in: PubMed

Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson's and Alzheimer's diseases. Neurobiol Aging. 2016 Feb; 38:214. e7-214. e10. View in: PubMed

Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis. Neurobiol Aging. 2016 Nov; 47:218. e1-218. e9. View in: PubMed

Mutation analysis of sporadic early-onset Alzheimer's disease using the NeuroX array. Neurobiol Aging. 2017 Jan; 49:215. e1-215. e8. View in: PubMed

Analysis of C9orf72 repeat expansions in a large international cohort of dementia with Lewy bodies. Neurobiol Aging. 2017 Jan; 49:214. e13-214. e15. View in: PubMed

Mutation analysis of patients with neuronal intermediate filament inclusion disease (NIFID). Neurobiol Aging. 2006 May; 27(5):778. e1-778. e6. View in: PubMed

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Clinical and genetic analyses of familial and sporadic frontotemporal dementia patients in Southern Italy. Alzheimers Dement. 2017 Mar 03. View in: PubMed

Genetics of early-onset Parkinson's disease in Finland: exome sequencing and genome-wide association study. Neurobiol Aging. 2017 Feb 02. View in: PubMed

Effects of Multiple Genetic Loci on Age at Onset in Frontotemporal Dementia. J Alzheimers Dis. 2017 Jan 23. View in: PubMed

Novel genetic loci associated with hippocampal volume. Nat Commun. 2017 Jan 18; 8:13624. View in: PubMed

The Birth of the Modern Era of Parkinson's Disease Genetics. J Parkinsons Dis. 2017; 7(s1):S89-S95. View in: PubMed

DNA methylation signatures of chronic low-grade inflammation are associated with complex diseases. Genome Biol. 2016 Dec 12; 17(1):255. View in: PubMed

Peripheral Blood Transcriptomic Signatures of Fasting Glucose and Insulin Concentrations. Diabetes. 2016 Dec; 65(12):3794-3804. View in: PubMed

What success can teach us about failure: the plasma metabolome of older adults with superior memory and lessons for Alzheimer's disease. Neurobiol Aging. 2016 Nov 21. View in: PubMed

A whole-blood transcriptome meta-analysis identifies gene expression signatures of cigarette smoking. Hum Mol Genet. 2016 Nov 01; 25(21):4611-4623. View in: PubMed

Arguing against the proposed definition changes of PD. Mov Disord. 2016 Nov; 31(11):1619-1622. View in: PubMed

Additional Rare Variant Analysis in Parkinson's Disease Cases with and Without Known Pathogenic Mutations: Evidence for Oligogenic Inheritance. Hum Mol Genet. 2016 Oct 18. View in: PubMed

Knowledge gaps and research recommendations for essential tremor. Parkinsonism Relat Disord. 2016 Oct 4. View in: PubMed

Novel genetic loci underlying human intracranial volume identified through genome-wide association. Nat Neurosci. 2016 Oct 03. View in: PubMed

Genetics in Parkinson disease: Mendelian versus non-Mendelian inheritance. J Neurochem. 2016 Oct; 139 Suppl 1:59-74. View in: PubMed

Exome sequencing in a consanguineous family clinically diagnosed with early-onset Alzheimer's disease identifies a homozygous CTSF mutation. Neurobiol Aging. 2016 Oct; 46:236. e1-6. View in: PubMed

Epigenetic Signatures of Cigarette Smoking. Circ Cardiovasc Genet. 2016 Oct; 9(5):436-447. View in: PubMed

ABCA7 p. G215S as potential protective factor for Alzheimer's disease. Neurobiol Aging. 2016 Oct; 46:235. e1-9. View in: PubMed

Next-generation sequencing reveals substantial genetic contribution to dementia with Lewy bodies. Neurobiol Dis. 2016 Oct; 94:55-62. View in: PubMed

DNA methylation-based measures of biological age: meta-analysis predicting time to death. Aging (Albany NY). 2016 Sep 28; 8(9):1844-1865. View in: PubMed

Genome-wide assessment of Parkinson's disease in a Southern Spanish population. Neurobiol Aging. 2016 Sep; 45:213. e3-9. View in: PubMed

Juvenile onset Parkinsonism with "pure nigral" degeneration and POLG1 mutation. Parkinsonism Relat Disord. 2016 Sep; 30:83-5. View in: PubMed

Fine-mapping, novel loci identification, and SNP association transferability in a genome-wide association study of QRS duration in African Americans. Hum Mol Genet. 2016 Aug 29. View in: PubMed

Menopause accelerates biological aging. Proc Natl Acad Sci U S A. 2016 Aug 16; 113(33):9327-32. View in: PubMed

Change in Epigenome-Wide DNA Methylation Over 9 Years and Subsequent Mortality: Results From the InCHIANTI Study. J Gerontol A Biol Sci Med Sci. 2016 Aug; 71(8):1029-35. View in: PubMed

Genetic and phenotypic characterization of complex hereditary spastic paraplegia. Brain. 2016 Jul; 139(Pt 7):1904-18. View in: PubMed

Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans. Cell Rep. 2016 Jun 28; 16(1):79-91. View in: PubMed

The Effect of Perioperative Rescue Transesophageal Echocardiography on the Management of Trauma Patients. A A Case Rep. 2016 Jun 15; 6(12):387-90. View in: PubMed

The Evolution of Genetics: Alzheimer's and Parkinson's Diseases. Neuron. 2016 Jun 15; 90(6):1154-63. View in: PubMed

CSF biomarkers associated with disease heterogeneity in early Parkinson's disease: the Parkinson's Progression Markers Initiative study. Acta Neuropathol. 2016 Jun; 131(6):935-49. View in: PubMed

A Novel Splice-Acceptor Site Mutation in GRN (c. 709-2 A>T) Causes Frontotemporal Dementia Spectrum in a Large Family from Southern Italy. J Alzheimers Dis. 2016 May 30; 53(2):475-85. View in: PubMed

Deletions at 22q11. 2 in idiopathic Parkinson's disease: a combined analysis of genome-wide association data. Lancet Neurol. 2016 May; 15(6):585-96. View in: PubMed

Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy. Am J Hum Genet. 2016 Mar 3; 98(3):500-13. View in: PubMed

Screening exons 16 and 17 of the amyloid precursor protein gene in sporadic early-onset Alzheimer's disease. Neurobiol Aging. 2016 Mar; 39:220. e1-7. View in: PubMed

Is the MC1R variant p. R160W associated with Parkinson's? Ann Neurol. 2016 Jan; 79(1):159-61. View in: PubMed

Mutation Frequency of the Major Frontotemporal Dementia Genes, MAPT, GRN and C9ORF72 in a Turkish Cohort of Dementia Patients. PLoS One. 2016; 11(9):e0162592. View in: PubMed

Influence of Coding Variability in APP-Aß Metabolism Genes in Sporadic Alzheimer's Disease. PLoS One. 2016; 11(6):e0150079. View in: PubMed

Baseline genetic associations in the Parkinson's Progression Markers Initiative (PPMI). Mov Disord. 2016 Jan; 31(1):79-85. View in: PubMed

Comprehensive promoter level expression quantitative trait loci analysis of the human frontal lobe. Genome Med. 2016; 8(1):65. View in: PubMed

A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease. Hum Mol Genet. 2015 Dec 1; 24(23):6711-20. View in: PubMed

Human Obesity Associated with an Intronic SNP in the Brain-Derived Neurotrophic Factor Locus. Cell Rep. 2015 Nov 10; 13(6):1073-80. View in: PubMed

Genome-wide Meta-analysis on the Sense of Smell Among US Older Adults. Medicine (Baltimore). 2015 Nov; 94(47):e1892. View in: PubMed

Diagnosis of Parkinson's disease on the basis of clinical and genetic classification: a population-based modelling study. Lancet Neurol. 2015 Oct; 14(10):1002-9. View in: PubMed

A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia. Neurobiol Aging. 2015 Oct; 36(10):2904. e13-26. View in: PubMed

Gene expression markers of age-related inflammation in two human cohorts. Exp Gerontol. 2015 Oct; 70:37-45. View in: PubMed

Parkinson's disease: From human genetics to clinical trials. Sci Transl Med. 2015 Sep 16; 7(305):205ps20. View in: PubMed

EIF4G1 mutations do not cause Parkinson's disease. Neurobiol Aging. 2015 Aug; 36(8):2444. e1-4. View in: PubMed

Rare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke: The NHLBI Exome Sequence Project. JAMA Neurol. 2015 Jul; 72(7):781-8. View in: PubMed

CHCHD2 and Parkinson's disease. Lancet Neurol. 2015 Jul; 14(7):678-9. View in: PubMed

Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease. Neurol Genet. 2015 Jun; 1(1):e9. View in: PubMed

Cell Specific eQTL Analysis without Sorting Cells. PLoS Genet. 2015 May; 11(5):e1005223. View in: PubMed

Sedation and analgesia for critically ill pediatric burn patients: the current state of practice. J Burn Care Res. 2015 May-Jun; 36(3):440-5. View in: PubMed

Genetic risk and age in Parkinson's disease: Continuum not stratum. Mov Disord. 2015 May; 30(6):850-4. View in: PubMed

A genomic profile of the immune response to stroke with implications for stroke recovery. Biol Res Nurs. 2015 May; 17(3):248-56. View in: PubMed

Common genetic variants influence human subcortical brain structures. Nature. 2015 Apr 9; 520(7546):224-9. View in: PubMed

DNA methylation of lipid-related genes affects blood lipid levels. Circ Cardiovasc Genet. 2015 Apr; 8(2):334-42. View in: PubMed

Polygenic risk of Parkinson disease is correlated with disease age at onset. Ann Neurol. 2015 Apr; 77(4):582-91. View in: PubMed

Genetics. For complex disease genetics, collaboration drives progress. Science. 2015 Mar 27; 347(6229):1422-3. View in: PubMed

Whole-genome sequencing to understand the genetic architecture of common gene expression and biomarker phenotypes. Hum Mol Genet. 2015 Mar 1; 24(5):1504-12. View in: PubMed

Head injury, potential interaction with genes, and risk for Parkinson's disease. Parkinsonism Relat Disord. 2015 Mar; 21(3):292-6. View in: PubMed

A meta-analysis of gene expression signatures of blood pressure and hypertension. PLoS Genet. 2015 Mar; 11(3):e1005035. View in: PubMed

A new gene for Parkinson's disease: should we care? Lancet Neurol. A new gene for Parkinson's disease: should we care? Lancet Neurol. 2015 Mar; 14(3):238-9. View in: PubMed

NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases. Neurobiol Aging. 2015 Mar; 36(3):1605. e7-12. View in: PubMed

Multiple system atrophy: the application of genetics in understanding etiology. Clin Auton Res. 2015 Feb; 25(1):19-36. View in: PubMed

Multiple system atrophy is not caused by C9orf72 hexanucleotide repeat expansions. Neurobiol Aging. 2015 Feb; 36(2):1223. e1-2. View in: PubMed

X-linked Parkinson's disease. Mov Disord. 2015 Feb; 30(2):196. View in: PubMed

A 7. 5-Mb duplication at chromosome 11q21-11q22. 3 is associated with a novel spastic ataxia syndrome. Mov Disord. 2015 Feb; 30(2):262-6. View in: PubMed

Genome-wide admixture and association study of serum iron, ferritin, transferrin saturation and total iron binding capacity in African Americans. Hum Mol Genet. 2015 Jan 15; 24(2):572-81. View in: PubMed

GWAS of longevity in CHARGE consortium confirms APOE and FOXO3 candidacy. J Gerontol A Biol Sci Med Sci. 2015 Jan; 70(1):110-8. View in: PubMed

Mutation analysis of patients with neurodegenerative disorders using NeuroX array. Neurobiol Aging. 2015 Jan; 36(1):545. e9-14. View in: PubMed

LRRK2 exonic variants and risk of multiple system atrophy. Neurology. 2014 Dec 9; 83(24):2256-61. View in: PubMed

Whole blood gene expression and interleukin-6 levels. Genomics. 2014 Dec; 104(6 Pt B):490-5. View in: PubMed

Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease. Neurobiol Aging. 2014 Dec; 35(12):2881. e1-6. View in: PubMed

Identical twins with the C9orf72 repeat expansion are discordant for ALS. Neurology. 2014 Oct 14; 83(16):1476-8. View in: PubMed

Another explanation for apparent epistasis. Nature. 2014 Oct 2; 514(7520):E3-5. View in: PubMed

Exome sequencing identifies 2 novel presenilin 1 mutations (p. L166V and p. S230R) in British early-onset Alzheimer's disease. Neurobiol Aging. 2014 Oct; 35(10):2422. e13-6. View in: PubMed

Genetic variability in the regulation of gene expression in ten regions of the human brain. Nat Neurosci. 2014 Oct; 17(10):1418-28. View in: PubMed

Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations. Hum Mol Genet. 2014 Sep 15; 23(R1):R47-53. View in: PubMed

Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease. Nat Genet. 2014 Sep; 46(9):989-93. View in: PubMed

A 6. 4 Mb duplication of the a-synuclein locus causing frontotemporal dementia and Parkinsonism: phenotype-genotype correlations. JAMA Neurol. 2014 Sep; 71(9):1162-71. View in: PubMed

Parkinson's disease in GTP cyclohydrolase 1 mutation carriers. Brain. 2014 Sep; 137(Pt 9):2480-92. View in: PubMed

Genome-wide analysis of the heritability of amyotrophic lateral sclerosis. JAMA Neurol. 2014 Sep; 71(9):1123-34. View in: PubMed

Frontotemporal dementia and its subtypes: a genome-wide association study. Lancet Neurol. 2014 Jul; 13(7):686-99. View in: PubMed

Susceptibility loci for pigmentation and melanoma in relation to Parkinson's disease. Neurobiol Aging. 2014 Jun; 35(6):1512. e5-10. View in: PubMed

Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy. J Neurol Neurosurg Psychiatry. 2014 May; 85(5):486-92. View in: PubMed

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis. Nat Neurosci. 2014 May; 17(5):664-6. View in: PubMed

Genetics of low spinal muscular atrophy carrier frequency in sub-Saharan Africa. Ann Neurol. 2014 Apr; 75(4):525-32. View in: PubMed

Molecular genetic overlap in bipolar disorder, schizophrenia, and major depressive disorder. World J Biol Psychiatry. 2014 Apr; 15(3):200-8. View in: PubMed

Genetic comorbidities in Parkinson's disease. Hum Mol Genet. 2014 Feb 1; 23(3):831-41. View in: PubMed

Canine hereditary ataxia in old english sheepdogs and gordon setters is associated with a defect in the autophagy gene encoding RAB24. PLoS Genet. 2014 Feb; 10(2):e1003991. View in: PubMed

Genetics. A unified process for neurological disease. Science. 2014 Jan 31; 343(6170):497-8. View in: PubMed

Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease. Nature. 2014 Jan 23; 505(7484):550-4. View in: PubMed

Splicing factor 3B1 hypomethylation is associated with altered SF3B1 transcript expression in older humans. Mech Ageing Dev. 2014 Jan; 135:50-6. View in: PubMed

Variability in clinical phenotypes of heterozygous and homozygous cases of Parkin-related Parkinson's disease. Int J Neurosci. 2013 Dec; 123(12):847-9. View in: PubMed

A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance. Am J Hum Genet. 2013 Nov 7; 93(5):976-83. View in: PubMed

Association of cerebrospinal fluid ß-amyloid 1-42, T-tau, P-tau181, and a-synuclein levels with clinical features of drug-naive patients with early Parkinson disease. JAMA Neurol. 2013 Oct; 70(10):1277-87. View in: PubMed

Analysis of genome-wide association studies of Alzheimer disease and of Parkinson disease to determine if these 2 diseases share a common genetic risk. JAMA Neurol. 2013 Oct; 70(10):1268-76. View in: PubMed

Genome-wide association analysis of blood-pressure traits in African-ancestry individuals reveals common associated genes in African and non-African populations. Am J Hum Genet. 2013 Sep 5; 93(3):545-54. View in: PubMed

Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment. J Neurol. 2013 Sep; 260(9):2414-6. View in: PubMed

Age-modulated association between prefrontal NAA and the BDNF gene. Int J Neuropsychopharmacol. 2013 Jul; 16(6):1185-93. View in: PubMed

Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network. Hum Mol Genet. 2013 Jun 15; 22(12):2529-38. View in: PubMed

The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism. J Neurol Neurosurg Psychiatry. 2013 Jun; 84(6):666-73. View in: PubMed

Genome-wide meta-analysis of observational studies shows common genetic variants associated with macronutrient intake. Am J Clin Nutr. 2013 Jun; 97(6):1395-402. View in: PubMed

Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. Nat Genet. 2013 Jun; 45(6):621-31. View in: PubMed

A meta-analysis identifies new loci associated with body mass index in individuals of African ancestry. Nat Genet. 2013 Jun; 45(6):690-6. View in: PubMed

A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies. JAMA Neurol. 2013 Jun; 70(6):727-35. View in: PubMed

Two-stage association study and meta-analysis of mitochondrial DNA variants in Parkinson disease. Neurology. 2013 May 28; 80(22):2042-8. View in: PubMed

Genetic variation associated with circulating monocyte count in the eMERGE Network. Hum Mol Genet. 2013 May 15; 22(10):2119-27. View in: PubMed

Finding risk in all the right places. Neuron. 2013 Apr 24; 78(2):207-8. View in: PubMed

Towards a gene expression biomarker set for human biological age. Aging Cell. 2013 Apr; 12(2):324-6. View in: PubMed

Apolipoprotein E genotype, cardiovascular biomarkers and risk of stroke: systematic review and meta-analysis of 14,015 stroke cases and pooled analysis of primary biomarker data from up to 60,883 individuals. Int J Epidemiol. 2013 Apr; 42(2):475-92. View in: PubMed

Age-associated changes in gene expression in human brain and isolated neurons. Neurobiol Aging. 2013 Apr; 34(4):1199-209. View in: PubMed

A genome-wide association study of depressive symptoms. Biol Psychiatry. 2013 Apr 1; 73(7):667-78. View in: PubMed

Common variants within oxidative phosphorylation genes influence risk of ischemic stroke and intracerebral hemorrhage. Stroke. 2013 Mar; 44(3):612-9. View in: PubMed

Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk Loci. Ann Hum Genet. 2013 Mar; 77(2):85-105. View in: PubMed

A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease. Hum Mol Genet. 2013 Mar 1; 22(5):1039-49. View in: PubMed

Alzheimer risk variant CLU and brain function during aging. Biol Psychiatry. 2013 Mar 1; 73(5):399-405. View in: PubMed

Effect of complement CR1 on brain amyloid burden during aging and its modification by APOE genotype. Biol Psychiatry. 2013 Mar 1; 73(5):422-8. View in: PubMed

Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity. Am J Hum Genet. 2013 Feb 7; 92(2):245-51. View in: PubMed

Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. Nat Genet. 2013 Feb; 45(2):145-54. View in: PubMed

Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity. Hum Mutat. 2013 Feb; 34(2):296-300. View in: PubMed

TREM2 variants in Alzheimer's disease. N Engl J Med. 2013 Jan 10; 368(2):117-27. View in: PubMed

Fine-mapping, gene expression and splicing analysis of the disease associated LRRK2 locus. PLoS One. 2013; 8(8):e70724. View in: PubMed

Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement. JAMA Neurol. 2013 Jan; 70(1):78-84. View in: PubMed

Imputation of variants from the 1000 Genomes Project modestly improves known associations and can identify low-frequency variant-phenotype associations undetected by HapMap based imputation. PLoS One. 2013; 8(5):e64343. View in: PubMed

NOTCH3 variants and risk of ischemic stroke. PLoS One. 2013; 8(9):e75035. View in: PubMed

LRRK2: cause, risk, and mechanism. J Parkinsons Dis. 2013; 3(2):85-103. View in: PubMed

The genetics of Parkinson's disease: progress and therapeutic implications. Mov Disord. 2013 Jan; 28(1):14-23. View in: PubMed

Use of support vector machines for disease risk prediction in genome-wide association studies: concerns and opportunities. Hum Mutat. 2012 Dec; 33(12):1708-18. View in: PubMed

Impact of ancestry and common genetic variants on QT interval in African Americans. Circ Cardiovasc Genet. 2012 Dec; 5(6):647-55. View in: PubMed

Novel loci associated with PR interval in a genome-wide association study of 10 African American cohorts. Circ Cardiovasc Genet. 2012 Dec; 5(6):639-46. View in: PubMed

Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease. Hum Mol Genet. 2012 Nov 15; 21(22):4996-5009. View in: PubMed

Genomic variation in seven Khoe-San groups reveals adaptation and complex African history. Science. 2012 Oct 19; 338(6105):374-9. View in: PubMed

Large C9orf72 repeat expansions are not a common cause of Parkinson's disease. Neurobiol Aging. 2012 Oct; 33(10):2527. e1-2. View in: PubMed

DYT16: the original cases. J Neurol Neurosurg Psychiatry. 2012 Oct; 83(10):1012-4. View in: PubMed

An exploratory analysis on gene-environment interactions for Parkinson disease. Neurobiol Aging. 2012 Oct; 33(10):2528. e1-6. View in: PubMed

MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies. Hum Mol Genet. 2012 Sep 15; 21(18):4094-103. View in: PubMed

The genetics and neuropathology of Parkinson's disease. Acta Neuropathol. 2012 Sep; 124(3):325-38. View in: PubMed

Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease. Brain. 2012 Sep; 135(Pt 9):2875-82. View in: PubMed

Advancing age is associated with gene expression changes resembling mTOR inhibition: evidence from two human populations. Mech Ageing Dev. 2012 Aug; 133(8):556-62. View in: PubMed

Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients. Neurobiol Aging. 2012 Aug; 33(8):1850. e17-27. View in: PubMed

Leukocyte CCR2 expression is associated with mini-mental state examination score in older adults. Rejuvenation Res. 2012 Aug; 15(4):395-404. View in: PubMed

Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases. Neurology. 2012 Jul 10; 79(2):127-31. View in: PubMed

Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain. Neurobiol Dis. 2012 Jul; 47(1):20-8. View in: PubMed

A large study reveals no association between APOE and Parkinson's disease. Neurobiol Dis. 2012 May; 46(2):389-92. View in: PubMed

Exome sequencing reveals an unexpected genetic cause of disease: NOTCH3 mutation in a Turkish family with Alzheimer's disease. Neurobiol Aging. 2012 May; 33(5):1008. e17-23. View in: PubMed

CCAAT-enhancer-binding protein-beta expression in vivo is associated with muscle strength. Aging Cell. 2012 Apr; 11(2):262-8. View in: PubMed

The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomisation analysis. Lancet. 2012 Mar 31; 379(9822):1214-24. View in: PubMed

Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. Nat Genet. 2012 Mar; 44(3):260-8. View in: PubMed

Repeat expansion in C9ORF72 in Alzheimer's disease. N Engl J Med. 2012 Jan 19; 366(3):283-4. View in: PubMed

A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans. PLoS Genet. 2012; 8(3):e1002491. View in: PubMed

Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database. PLoS Genet. 2012; 8(3):e1002548. View in: PubMed

Genome wide assessment of young onset Parkinson's disease from Finland. PLoS One. 2012; 7(7):e41859. View in: PubMed

Cell population-specific expression analysis of human cerebellum. BMC Genomics. 2012; 13:610. View in: PubMed

Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. PLoS Genet. 2012; 8(3):e1002607. View in: PubMed

A genome-wide association search for type 2 diabetes genes in African Americans. PLoS One. 2012; 7(1):e29202. View in: PubMed

Cooperative genome-wide analysis shows increased homozygosity in early onset Parkinson's disease. PLoS One. 2012; 7(3):e28787. View in: PubMed

Using DNA methylation to understand biological consequences of genetic variability. Neurodegener Dis. 2012; 9(2):53-9. View in: PubMed

The role of variation at AßPP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's disease. J Alzheimers Dis. 2012; 28(2):377-87. View in: PubMed

Mutational analysis of the VCP gene in Parkinson's disease. Neurobiol Aging. 2012 Jan; 33(1):209. e1-2. View in: PubMed

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron. 2011 Oct 20; 72(2):257-68. View in: PubMed

A generalizable hypothesis for the genetic architecture of disease: pleomorphic risk loci. Hum Mol Genet. 2011 Oct 15; 20(R2):R158-62. View in: PubMed

Allelic heterogeneity and more detailed analyses of known loci explain additional phenotypic variation and reveal complex patterns of association. Hum Mol Genet. 2011 Oct 15; 20(20):4082-92. View in: PubMed

Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry. PLoS Genet. 2011 Oct; 7(10):e1002298. View in: PubMed

Human aging is characterized by focused changes in gene expression and deregulation of alternative splicing. Aging Cell. 2011 Oct; 10(5):868-78. View in: PubMed

Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. Nat Genet. 2011 Oct; 43(10):1005-11. View in: PubMed

Genetic players in multiple system atrophy: unfolding the nature of the beast. Neurobiol Aging. 2011 Oct; 32(10):1924. e5-14. View in: PubMed

Siblings with ischemic stroke study: results of a genome-wide scan for stroke loci. Stroke. 2011 Oct; 42(10):2726-32. View in: PubMed

Parkinson's disease and a-synuclein expression. Mov Disord. 2011 Oct; 26(12):2160-8. View in: PubMed

Exome sequencing: a transformative technology. Lancet Neurol. 2011 Oct; 10(10):942-6. View in: PubMed

Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature. 2011 Sep 11; 478(7367):103-9. View in: PubMed

Clinical features, with video documentation, of the original familial lewy body parkinsonism caused by a-synuclein triplication (Iowa kindred). Mov Disord. 2011 Sep; 26(11):2134-6. View in: PubMed

Effect modification by population dietary folate on the association between MTHFR genotype, homocysteine, and stroke risk: a meta-analysis of genetic studies and randomised trials. Lancet. 2011 Aug 13; 378(9791):584-94. View in: PubMed

Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. Nat Genet. 2011 Jul; 43(7):699-705. View in: PubMed

Genome-wide association study confirms extant PD risk loci among the Dutch. Eur J Hum Genet. 2011 Jun; 19(6):655-61. View in: PubMed

Multiple loci are associated with white blood cell phenotypes. PLoS Genet. 2011 Jun; 7(6):e1002113. View in: PubMed

Genome-wide association study of white blood cell count in 16,388 African Americans: the continental origins and genetic epidemiology network (COGENT). PLoS Genet. 2011 Jun; 7(6):e1002108. View in: PubMed

SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia. Arch Neurol. 2011 May; 68(5):637-43. View in: PubMed

Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat Genet. 2011 May; 43(5):429-35. View in: PubMed

The effect of survival bias on case-control genetic association studies of highly lethal diseases. Circ Cardiovasc Genet. 2011 Apr; 4(2):188-96. View in: PubMed

Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p. J Neurol. 2011 Apr; 258(4):647-55. View in: PubMed

Distinct DNA methylation changes highly correlated with chronological age in the human brain. Hum Mol Genet. 2011 Mar 15; 20(6):1164-72. View in: PubMed

Mutational analysis of parkin and PINK1 in multiple system atrophy. Neurobiol Aging. 2011 Mar; 32(3):548. e5-7. View in: PubMed

Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. Lancet. 2011 Feb 19; 377(9766):641-9. View in: PubMed

Genomic risk profiling of ischemic stroke: results of an international genome-wide association meta-analysis. PLoS One. 2011; 6(9):e23161. View in: PubMed

A network-based approach to prioritize results from genome-wide association studies. PLoS One. 2011; 6(9):e24220. View in: PubMed

APOE and AßPP gene variation in cortical and cerebrovascular amyloid-ß pathology and Alzheimer's disease: a population-based analysis. J Alzheimers Dis. 2011; 26(2):377-85. View in: PubMed

Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasma. Am J Hum Genet. 2010 Dec 10; 87(6):890-7. View in: PubMed

Another locus, a new method. Brain. 2010 Dec; 133(Pt 12):3492-3. View in: PubMed

Genetic variability at the PARK16 locus. Eur J Hum Genet. 2010 Dec; 18(12):1356-9. View in: PubMed

Nature versus nurture: death of a dogma, and the road ahead. Neuron. 2010 Oct 21; 68(2):196-200. View in: PubMed

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New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet. 2010 Feb; 42(2):105-16. View in: PubMed

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A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease. Am J Hum Genet. 2009 May; 84(5):558-66. View in: PubMed

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A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis. Hum Mol Genet. 2009 Apr 15; 18(8):1524-32. View in: PubMed

Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations. Am J Hum Genet. 2009 Apr; 84(4):477-82. View in: PubMed

The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm. Mov Disord. 2009 Mar 15; 24(4):613-6. View in: PubMed

Measures of autozygosity in decline: globalization, urbanization, and its implications for medical genetics. PLoS Genet. 2009 Mar; 5(3):e1000415. View in: PubMed

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Common variation in the beta-carotene 15,15'-monooxygenase 1 gene affects circulating levels of carotenoids: a genome-wide association study. Am J Hum Genet. 2009 Feb; 84(2):123-33. View in: PubMed

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A simple and efficient algorithm for genome-wide homozygosity analysis in disease. Mol Syst Biol. 2009; 5:304. View in: PubMed

Genome-wide association study of plasma polyunsaturated fatty acids in the InCHIANTI Study. PLoS Genet. 2009 Jan; 5(1):e1000338. View in: PubMed

A duplication at chromosome 11q12. 2-11q12. 3 is associated with spinocerebellar ataxia type 20. Hum Mol Genet. 2008 Dec 15; 17(24):3847-53. View in: PubMed

Emerging pathways in genetic Parkinson's disease: Potential role of ceramide metabolism in Lewy body disease. FEBS J. 2008 Dec; 275(23):5767-73. View in: PubMed

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Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes. Am J Hum Genet. 2008 Oct; 83(4):520-8. View in: PubMed

Neurofibrillary tau pathology modulated by genetic variation of alpha-synuclein. Ann Neurol. 2008 Sep; 64(3):348-52. View in: PubMed

A common variation in deiodinase 1 gene DIO1 is associated with the relative levels of free thyroxine and triiodothyronine. J Clin Endocrinol Metab. 2008 Aug; 93(8):3075-81. View in: PubMed

Novel progranulin mutation: screening for PGRN mutations in a Portuguese series of FTD/CBS cases. Mov Disord. 2008 Jul 15; 23(9):1269-73. View in: PubMed

Sequencing analysis of OMI/HTRA2 shows previously reported pathogenic mutations in neurologically normal controls. Hum Mol Genet. 2008 Jul 1; 17(13):1988-93. View in: PubMed

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Susceptibility genes in movement disorders. Mov Disord. 2008 May 15; 23(7):927-34; quiz 1064. View in: PubMed

Association between AKT1 gene and Parkinson's disease: a protective haplotype. Neurosci Lett. 2008 May 9; 436(2):232-4. View in: PubMed

Structural genomic variation in ischemic stroke. Neurogenetics. 2008 May; 9(2):101-8. View in: PubMed

A genome-wide association study identifies protein quantitative trait loci (pQTLs). PLoS Genet. 2008 May; 4(5):e1000072. View in: PubMed

Whole genome analyses suggest ischemic stroke and heart disease share an association with polymorphisms on chromosome 9p21. Stroke. 2008 May; 39(5):1586-9. View in: PubMed

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science. 2008 Apr 25; 320(5875):539-43. View in: PubMed

Comprehensive analysis of LRRK2 in publicly available Parkinson's disease cases and neurologically normal controls. Hum Mutat. 2008 Apr; 29(4):485-90. View in: PubMed

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Whole genome association studies: deciding when persistence becomes perseveration. Am J Med Genet B Neuropsychiatr Genet. 2008 Mar 5; 147B(2):131-3. View in: PubMed

DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA. Lancet Neurol. 2008 Mar; 7(3):207-15. View in: PubMed

Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance. Am J Hum Genet. 2008 Mar; 82(3):652-60. View in: PubMed

The HapMap: charting a course for genetic discovery in neurological diseases. Arch Neurol. 2008 Mar; 65(3):319-21. View in: PubMed

Genotype, haplotype and copy-number variation in worldwide human populations. Nature. 2008 Feb 21; 451(7181):998-1003. View in: PubMed

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Novel GCH1 mutation in a Brazilian family with dopa-responsive dystonia. Mov Disord. 2008 Jan 30; 23(2):299-302. View in: PubMed

TDP-43 is not a common cause of sporadic amyotrophic lateral sclerosis. PLoS One. 2008; 3(6):e2450. View in: PubMed

Senile systemic amyloidosis affects 25% of the very aged and associates with genetic variation in alpha2-macroglobulin and tau: a population-based autopsy study. Ann Med. 2008; 40(3):232-9. View in: PubMed

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Association of integrin alpha2 gene variants with ischemic stroke. J Cereb Blood Flow Metab. 2008 Jan; 28(1):81-9. View in: PubMed

Analysis of Nigerians with apparently sporadic Parkinson disease for mutations in LRRK2, PRKN and ATXN3. PLoS One. 2008; 3(10):e3421. View in: PubMed

Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11. Nat Genet. 2007 Dec; 39(12):1434-6. View in: PubMed

Kinase signaling pathways as potential targets in the treatment of Parkinson's disease. Expert Rev Proteomics. 2007 Dec; 4(6):783-92. View in: PubMed

Genome-wide association studies and ALS: are we there yet? Lancet Neurol. Genome-wide association studies and ALS: are we there yet? Lancet Neurol. 2007 Oct; 6(10):841-3. View in: PubMed

Reporting and interpretation of genetic variants in cases and controls. Neurology. 2007 Jul 3; 69(1):111-2. View in: PubMed

Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans. PLoS Genet. 2007 Jun; 3(6):e108. View in: PubMed

A genome-wide genotyping study in patients with ischaemic stroke: initial analysis and data release. Lancet Neurol. 2007 May; 6(5):414-20. View in: PubMed

IL1RN VNTR polymorphism in ischemic stroke: analysis in 3 populations. Stroke. 2007 Apr; 38(4):1189-96. View in: PubMed

Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data. Lancet Neurol. 2007 Apr; 6(4):322-8. View in: PubMed

Linkage disequilibrium and association analysis of alpha-synuclein and alcohol and drug dependence in two American Indian populations. Alcohol Clin Exp Res. 2007 Apr; 31(4):546-54. View in: PubMed

Linkage and association analyses of type 2 diabetes/impaired glucose metabolism and adiponectin serum levels in Japanese Americans from Hawaii. Diabetes. 2007 Feb; 56(2):537-40. View in: PubMed

Establishing the genetic heterogeneity of familial hemiplegic migraine. Brain. 2007 Feb; 130(Pt 2):312-3. View in: PubMed

Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm. Mov Disord. 2007 Jan 15; 22(2):162-6. View in: PubMed

Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals. Hum Mol Genet. 2007 Jan 1; 16(1):1-14. View in: PubMed

Amyotrophic lateral sclerosis: an emerging era of collaborative gene discovery. PLoS One. 2007; 2(12):e1254. View in: PubMed

Smoking-responsive juvenile-onset Parkinsonism. Mov Disord. 2007 Jan; 22(1):115-9. View in: PubMed

Comprehensive screening of a North American Parkinson's disease cohort for LRRK2 mutation. Neurodegener Dis. 2007; 4(5):386-91. View in: PubMed

Parkinson's disease due to the R1441G mutation in Dardarin: a founder effect in the Basques. Mov Disord. 2006 Nov; 21(11):1954-9. View in: PubMed

Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data. Lancet Neurol. 2006 Nov; 5(11):911-6. View in: PubMed

Application of genome-wide single nucleotide polymorphism typing: simple association and beyond. PLoS Genet. 2006 Oct 6; 2(10):e150. View in: PubMed

Genetics of Parkinson's disease and parkinsonism. Ann Neurol. 2006 Oct; 60(4):389-98. View in: PubMed

Genomewide scans in North American families reveal genetic linkage of essential tremor to a region on chromosome 6p23. Brain. 2006 Sep; 129(Pt 9):2318-31. View in: PubMed

Glucocerebrosidase mutations are not found in association with LRRK2 G2019S in subjects with parkinsonism. Neurosci Lett. 2006 Aug 14; 404(1-2):163-5. View in: PubMed

Kinase activity is required for the toxic effects of mutant LRRK2/dardarin. Neurobiol Dis. 2006 Aug; 23(2):329-41. View in: PubMed

Conflicting results regarding the semaphorin gene (SEMA5A) and the risk for Parkinson disease. Am J Hum Genet. 2006 Jun; 78(6):1082-4; author reply 1092-4. View in: PubMed

Assessment of PINK1 (PARK6) polymorphisms in Finnish PD. Neurobiol Aging. 2006 Jun; 27(6):906-7. View in: PubMed

Lack of G2019S LRRK2 mutation in a cohort of Taiwanese with sporadic Parkinson's disease. Mov Disord. 2006 Jun; 21(6):880-1. View in: PubMed

Association of alpha-synuclein Rep1 polymorphism and Parkinson's disease: influence of Rep1 on age at onset. Mov Disord. 2006 Apr; 21(4):534-9. View in: PubMed

The human prion gene M129V polymorphism is not associated with idiopathic Parkinson's disease in three distinct populations. Neurosci Lett. 2006 Mar 13; 395(3):227-9. View in: PubMed

Analysis of the PINK1 gene in a cohort of patients with sporadic early-onset parkinsonism in Taiwan. Neurosci Lett. 2006 Feb 6; 394(1):33-6. View in: PubMed

Clinical heterogeneity of alpha-synuclein gene duplication in Parkinson's disease. Ann Neurol. 2006 Feb; 59(2):298-309. View in: PubMed

Prion genotypes in Central America suggest selection for the V129 allele. Am J Med Genet B Neuropsychiatr Genet. 2006 Jan 5; 141B(1):33-5. View in: PubMed

Mutations in neurofilament genes are not a significant primary cause of non-SOD1-mediated amyotrophic lateral sclerosis. Neurobiol Dis. 2006 Jan; 21(1):102-9. View in: PubMed

Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD. BMC Neurol. 2006; 6:44. View in: PubMed

A common genetic factor for Parkinson disease in ethnic Chinese population in Taiwan. BMC Neurol. 2006; 6:47. View in: PubMed

Association of HFE common mutations with Parkinson's disease, Alzheimer's disease and mild cognitive impairment in a Portuguese cohort. BMC Neurol. 2006; 6:24. View in: PubMed

The dardarin G 2019 S mutation is a common cause of Parkinson's disease but not other neurodegenerative diseases. Neurosci Lett. 2005 Dec 9; 389(3):137-9. View in: PubMed

How genetics research in Parkinson's disease is enhancing understanding of the common idiopathic forms of the disease. Curr Opin Neurol. 2005 Dec; 18(6):706-11. View in: PubMed

Mutations in the gene LRRK2 encoding dardarin (PARK8) cause familial Parkinson's disease: clinical, pathological, olfactory and functional imaging and genetic data. Brain. 2005 Dec; 128(Pt 12):2786-96. View in: PubMed

Taiwanese cases of SCA2 are derived from a single founder. Mov Disord. 2005 Dec; 20(12):1633-6. View in: PubMed

G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort. Mov Disord. 2005 Dec; 20(12):1653-5. View in: PubMed

Phosphodiesterase 4D and 5-lipoxygenase activating protein in ischemic stroke. Ann Neurol. 2005 Sep; 58(3):351-61. View in: PubMed

Altered alpha-synuclein homeostasis causing Parkinson's disease: the potential roles of dardarin. Trends Neurosci. 2005 Aug; 28(8):416-21. View in: PubMed

Apolipoprotein E4 is probably responsible for the chromosome 19 linkage peak for Parkinson's disease. Am J Med Genet B Neuropsychiatr Genet. 2005 Jul 5; 136B(1):72-4. View in: PubMed

Mutation of the Parkin gene in a Persian family: clinical progression over a 40-year period. Mov Disord. 2005 Jul; 20(7):887-90. View in: PubMed

Analysis of SCA-2 and SCA-3 repeats in Parkinsonism: evidence of SCA-2 expansion in a family with autosomal dominant Parkinson's disease. Neurosci Lett. 2005 Jul 1-8; 382(1-2):191-4. View in: PubMed

Torsin A haplotype predisposes to idiopathic dystonia. Ann Neurol. 2005 May; 57(5):765-7. View in: PubMed

Parkin disease in a Brazilian kindred: Manifesting heterozygotes and clinical follow-up over 10 years. Mov Disord. 2005 Apr; 20(4):479-84. View in: PubMed

Tyrosinase exacerbates dopamine toxicity but is not genetically associated with Parkinson's disease. J Neurochem. 2005 Apr; 93(1):246-56. View in: PubMed

Clinical and positron emission tomography of Parkinson's disease caused by LRRK2. Ann Neurol. 2005 Mar; 57(3):453-6. View in: PubMed

Unaltered alpha-synuclein blood levels in juvenile Parkinsonism with a parkin exon 4 deletion. Neurosci Lett. 2005 Feb 21; 374(3):189-91. View in: PubMed

Defining the ends of Parkin exon 4 deletions in two different families with Parkinson's disease. Am J Med Genet B Neuropsychiatr Genet. 2005 Feb 5; 133B(1):120-3. View in: PubMed

A common LRRK2 mutation in idiopathic Parkinson's disease. Lancet. 2005 Jan 29-Feb 4; 365(9457):415-6. View in: PubMed

Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease. Lancet. 2005 Jan 29-Feb 4; 365(9457):410-2. View in: PubMed

Lack of evidence for a genetic association between FGF20 and Parkinson's disease in Finnish and Greek patients. BMC Neurol. 2005; 5:11. View in: PubMed

A rare truncating mutation in ADH1C (G78Stop) shows significant association with Parkinson disease in a large international sample. Arch Neurol. 2005 Jan; 62(1):74-8. View in: PubMed

Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease. Arch Neurol. 2004 Dec; 61(12):1898-904. View in: PubMed

Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease. Neuron. 2004 Nov 18; 44(4):595-600. View in: PubMed

Analysis of familial and sporadic restless legs syndrome in age of onset, gender, and severity features. J Neurol. 2004 Nov; 251(11):1398-401. View in: PubMed

The tau H2 haplotype is almost exclusively Caucasian in origin. Neurosci Lett. 2004 Oct 21; 369(3):183-5. View in: PubMed

Smell testing is abnormal in 'lubag' or X-linked dystonia-parkinsonism: a pilot study. Parkinsonism Relat Disord. 2004 Oct; 10(7):407-10. View in: PubMed

Parkinson's disease and dementia with Lewy bodies: a difference in dose? Lancet. Parkinson's disease and dementia with Lewy bodies: a difference in dose? Lancet. 2004 Sep 25-Oct 1; 364(9440):1105-7. View in: PubMed

Paraoxonase 1 (PON1) gene polymorphisms and Parkinson's disease in a Finnish population. Neurosci Lett. 2004 Sep 2; 367(2):168-70. View in: PubMed

Biochemical characterization of torsinB. Brain Res Mol Brain Res. 2004 Aug 23; 127(1-2):1-9. View in: PubMed

A consanguineous Turkish family with early-onset Parkinson's disease and an exon 4 parkin deletion. Mov Disord. 2004 Jul; 19(7):812-6. View in: PubMed

Analysis of an early-onset Parkinson's disease cohort for DJ-1 mutations. Mov Disord. 2004 Jul; 19(7):796-800. View in: PubMed

No evidence for tau duplications in frontal temporal dementia families showing genetic linkage to the tau locus in which tau mutations have not been found. Neurosci Lett. 2004 Jun 10; 363(2):99-101. View in: PubMed

Association between cardiac denervation and parkinsonism caused by alpha-synuclein gene triplication. Brain. 2004 Apr; 127(Pt 4):768-72. View in: PubMed

The law of mass action applied to neurodegenerative disease: a hypothesis concerning the etiology and pathogenesis of complex diseases. Hum Mol Genet. 2004 Apr 1; 13 Spec No 1:R123-6. View in: PubMed

Exercise-induced dystonia as a preceding symptom of familial Parkinson's disease. Mov Disord. 2004 Feb; 19(2):228-30. View in: PubMed

X-linked recessive dystonia parkinsonism (XDP; Lubag; DYT3). Adv Neurol. 2004; 94:139-42. View in: PubMed

Polymorphism in the human DJ-1 gene is not associated with sporadic dementia with Lewy bodies or Parkinson's disease. Neurosci Lett. 2003 Dec 4; 352(2):151-3. View in: PubMed

Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation. Ann Neurol. 2003 Aug; 54(2):271-4. View in: PubMed

Mutation at the SCA17 locus is not a common cause of parkinsonism. Parkinsonism Relat Disord. 2003 Aug; 9(6):317-20. View in: PubMed

Ethnic differences and disease phenotypes. Science. 2003 May 2; 300(5620):739-40. View in: PubMed

Genes and parkinsonism. Lancet Neurol. 2003 Apr; 2(4):221-8. View in: PubMed

Familiality in simple and complex disease. Clin Auton Res. 2003 Apr; 13(2):88-90. View in: PubMed

SCA2 may present as levodopa-responsive parkinsonism. Mov Disord. 2003 Apr; 18(4):425-9. View in: PubMed

Case-control study of dopamine transporter-1, monoamine oxidase-B, and catechol-O-methyl transferase polymorphisms in Parkinson's disease. Mov Disord. 2002 Nov; 17(6):1305-11. View in: PubMed

Phenomenology of "Lubag" or X-linked dystonia-parkinsonism. Mov Disord. 2002 Nov; 17(6):1271-7. View in: PubMed

Ethnic differences in the expression of neurodegenerative disease: Machado-Joseph disease in Africans and Caucasians. Mov Disord. 2002 Sep; 17(5):1068-71. View in: PubMed

Normal localization of deltaF323-Y328 mutant torsinA in transfected human cells. Neurosci Lett. 2002 Jul 19; 327(2):75-8. View in: PubMed

A presenilin 1 mutation associated with familial frontotemporal dementia inhibits gamma-secretase cleavage of APP and notch. Neurobiol Dis. 2002 Mar; 9(2):269-73. View in: PubMed

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Clinical and neuropathological correlates of apolipoprotein E genotype in dementia with Lewy bodies. Dement Geriatr Cogn Disord. 2002; 14(4):167-75. View in: PubMed

Variation in tau isoform expression in different brain regions and disease states. Neurobiol Aging. 2013 Jul; 34(7):1922. e7-1922. e12. View in: PubMed

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