Andrew B Singleton

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. ncbi request reprint X-linked recessive dystonia parkinsonism (XDP; Lubag; DYT3)
    Andrew Singleton
    Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA
    Adv Neurol 94:139-42. 2004
  2. ncbi request reprint The human prion gene M129V polymorphism is not associated with idiopathic Parkinson's disease in three distinct populations
    Sonja W Scholz
    Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Building 35, Room 1A 1012, Bethesda, MD 20892, USA
    Neurosci Lett 395:227-9. 2006
  3. ncbi request reprint Glucocerebrosidase mutations are not found in association with LRRK2 G2019S in subjects with parkinsonism
    Michael J Eblan
    Section on Molecular Neurogenetics, Medical Genetics Branch, NHGRI, NIH, Bethesda, MD 20892, USA
    Neurosci Lett 404:163-5. 2006
  4. ncbi request reprint Establishing the genetic heterogeneity of familial hemiplegic migraine
    Nancy Low
    Section on Developmental Genetic Epidemiology, National Institute of Mental Health, Bethesda, MD, USA
    Brain 130:312-3. 2007
  5. pmc Association of integrin alpha2 gene variants with ischemic stroke
    Mar Matarin
    Neurogenetics Laboratory, National Institute on Aging, Bethesda, Maryland, USA
    J Cereb Blood Flow Metab 28:81-9. 2008
  6. pmc Measures of autozygosity in decline: globalization, urbanization, and its implications for medical genetics
    Michael A Nalls
    Laboratory of Neurogenetics, Intramural Research Program, National Institute on Aging, Bethesda, Maryland, United States of America
    PLoS Genet 5:e1000415. 2009
  7. pmc Genetic variability in CLU and its association with Alzheimer's disease
    Rita J Guerreiro
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, United States of America
    PLoS ONE 5:e9510. 2010
  8. pmc LRRK2: cause, risk, and mechanism
    Coro Paisan-Ruiz
    Department of Neurology, Psychiatry, and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, One Gustave L Levy Place, NY, USA
    J Parkinsons Dis 3:85-103. 2013
  9. pmc Finding risk in all the right places
    Andrew B Singleton
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA
    Neuron 78:207-8. 2013
  10. pmc The genetics of Parkinson's disease: progress and therapeutic implications
    Andrew B Singleton
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland 20892, USA
    Mov Disord 28:14-23. 2013

Detail Information

Publications132 found, 100 shown here

  1. ncbi request reprint X-linked recessive dystonia parkinsonism (XDP; Lubag; DYT3)
    Andrew Singleton
    Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA
    Adv Neurol 94:139-42. 2004
  2. ncbi request reprint The human prion gene M129V polymorphism is not associated with idiopathic Parkinson's disease in three distinct populations
    Sonja W Scholz
    Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Building 35, Room 1A 1012, Bethesda, MD 20892, USA
    Neurosci Lett 395:227-9. 2006
    ..No association between genotypes in codon 129 and IPD was detected in three distinct populations, suggesting that this PRNP polymorphism has no direct influence on the susceptibility to IPD...
  3. ncbi request reprint Glucocerebrosidase mutations are not found in association with LRRK2 G2019S in subjects with parkinsonism
    Michael J Eblan
    Section on Molecular Neurogenetics, Medical Genetics Branch, NHGRI, NIH, Bethesda, MD 20892, USA
    Neurosci Lett 404:163-5. 2006
    ..These findings suggest that GBA and LRRK2 mutations are discrete risk factors for parkinsonism in both Ashkenazi Jewish and non-Jewish subjects...
  4. ncbi request reprint Establishing the genetic heterogeneity of familial hemiplegic migraine
    Nancy Low
    Section on Developmental Genetic Epidemiology, National Institute of Mental Health, Bethesda, MD, USA
    Brain 130:312-3. 2007
  5. pmc Association of integrin alpha2 gene variants with ischemic stroke
    Mar Matarin
    Neurogenetics Laboratory, National Institute on Aging, Bethesda, Maryland, USA
    J Cereb Blood Flow Metab 28:81-9. 2008
    ..These results provide additional support for a role for platelet receptor genes in the pathogenesis of ischemic stroke of diverse subtypes...
  6. pmc Measures of autozygosity in decline: globalization, urbanization, and its implications for medical genetics
    Michael A Nalls
    Laboratory of Neurogenetics, Intramural Research Program, National Institute on Aging, Bethesda, Maryland, United States of America
    PLoS Genet 5:e1000415. 2009
    ..Autozygosity has declined, and it seems it will continue doing so...
  7. pmc Genetic variability in CLU and its association with Alzheimer's disease
    Rita J Guerreiro
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, United States of America
    PLoS ONE 5:e9510. 2010
    ..The strongest association was reported for an intronic single nucleotide polymorphism (SNP) in CLU...
  8. pmc LRRK2: cause, risk, and mechanism
    Coro Paisan-Ruiz
    Department of Neurology, Psychiatry, and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, One Gustave L Levy Place, NY, USA
    J Parkinsons Dis 3:85-103. 2013
    ..We believe that the future goals for LRRK2 research are, while challenging, relatively clear and that the next 10 years of research promises to be perhaps more exciting than the last. ..
  9. pmc Finding risk in all the right places
    Andrew B Singleton
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA
    Neuron 78:207-8. 2013
    ..In this issue of Neuron, Cruchaga et al. (2013) identify genetic variability linked to altered levels of tau protein in cerebrospinal fluid. They show that the same genetic variants can also confer risk for Alzheimer's disease...
  10. pmc The genetics of Parkinson's disease: progress and therapeutic implications
    Andrew B Singleton
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland 20892, USA
    Mov Disord 28:14-23. 2013
    ..We believe this has been an exciting, productive time for PD genetics and, furthermore, that genetics will continue to drive the etiologic understanding and etiology-based therapeutic approaches in this disease...
  11. pmc Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRKN, PINK1 and LRRK2
    Jose Bras
    Center for Neurosciences and Cell Biology, Faculty of Medicine, University of Coimbra, Coimbra, Portugal
    BMC Neurol 8:1. 2008
    ..We have previously reported that in the Portuguese population the LRRK2 c.6055G > A; p.G2019S mutation has one of the highest frequencies in Europe...
  12. pmc Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD
    Parastoo Momeni
    Laboratory of Neurogenetics, National Institute of Aging, NIH, Bethesda, MD, USA
    BMC Neurol 6:44. 2006
    ..A new locus for amyotrophic lateral sclerosis--frontotemporal dementia (ALS-FTD) has recently been ascribed to chromosome 9p...
  13. pmc A common genetic factor for Parkinson disease in ethnic Chinese population in Taiwan
    Hon Chung Fung
    Department of Neurology, Chang Gung Memorial Hospital and College of Medicine, Chang Gung University, 199 Tung Hwa North Road, Taipei, 10591, Taiwan
    BMC Neurol 6:47. 2006
    ..Recently, a common LRRK2 variant Gly2385Arg was reported in ethnic Chinese PD population in Taiwan. We analyzed the frequency of this variant in our independent PD case-control population of Han Chinese from Taiwan...
  14. pmc Association of HFE common mutations with Parkinson's disease, Alzheimer's disease and mild cognitive impairment in a Portuguese cohort
    Rita J Guerreiro
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, USA
    BMC Neurol 6:24. 2006
    ..Several reports have tested the association of HFE variants with neurodegenerative diseases, such as AD and PD with conflicting results...
  15. ncbi request reprint alpha-Synuclein locus triplication causes Parkinson's disease
    A B Singleton
    Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA
    Science 302:841. 2003
  16. ncbi request reprint Altered alpha-synuclein homeostasis causing Parkinson's disease: the potential roles of dardarin
    Andrew B Singleton
    Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Porter Neuroscience Research Center, Room 1A1000, MSC3707, 35 Lincoln Drive, Bethesda, MD 20892, USA
    Trends Neurosci 28:416-21. 2005
    ..In addition, it will discuss the recent identification of LRRK2 mutation as a cause of PD and the potential of this finding to provide further insight into disease...
  17. pmc Exome sequencing: a transformative technology
    Andrew B Singleton
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20837, USA
    Lancet Neurol 10:942-6. 2011
    ..Because of these and other restrictions the genetic basis of many diseases, and diseases in many families, remains unknown...
  18. pmc Towards a complete resolution of the genetic architecture of disease
    Andrew B Singleton
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA
    Trends Genet 26:438-42. 2010
    ..Whereas major challenges undoubtedly remain, particularly regarding data handling and the functional classification of variants, we suggest that these will be largely practical and not conceptual...
  19. ncbi request reprint Parkinson's disease and dementia with Lewy bodies: a difference in dose?
    Andrew Singleton
    Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA
    Lancet 364:1105-7. 2004
  20. ncbi request reprint Familiality in simple and complex disease
    Andrew Singleton
    Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Building 10 Room 6C103, 9000 Rockville Pike, Bethesda, MD 20892 USA
    Clin Auton Res 13:88-90. 2003
    ..Clinically well-characterized cohorts and large inter-institutional collaborations will be required to identify genes involved in complex disease...
  21. pmc Structural genomic variation in ischemic stroke
    Mar Matarin
    Molecular Genetics Section, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA
    Neurogenetics 9:101-8. 2008
    ..The application of genome-wide SNP arrays now facilitates the evaluation of structural changes through the entire genome as part of a genome-wide genetic association study...
  22. ncbi request reprint Comprehensive screening of a North American Parkinson's disease cohort for LRRK2 mutation
    Janel Johnson
    Laboratory of Neurogenetics, National Institute on Aging, Porter Neuroscience Research Center, National Institutes of Health, Bethesda, MD 20892, USA
    Neurodegener Dis 4:386-91. 2007
    ..Recently, mutations in LRRK2 encoding the protein dardarin have been linked to an autosomal dominant form of parkinsonism...
  23. doi request reprint Comprehensive analysis of LRRK2 in publicly available Parkinson's disease cases and neurologically normal controls
    Coro Paisan-Ruiz
    Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Bethesda, Maryland 20892, USA
    Hum Mutat 29:485-90. 2008
    ..These data and analysis of previously reported disease-segregating mutations shows that the majority of disease-causing mutations lie in the C-terminal half of the protein...
  24. pmc Effect of complement CR1 on brain amyloid burden during aging and its modification by APOE genotype
    Madhav Thambisetty
    Laboratory of Behavioral Neuroscience, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA
    Biol Psychiatry 73:422-8. 2013
    ..We examined the association between rs3818361 and brain amyloid deposition in nondemented older individuals...
  25. ncbi request reprint DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA
    Sarah Camargos
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland 20892, USA
    Lancet Neurol 7:207-15. 2008
    ..Dystonia and parkinsonism may present as part of the same genetic disorder. Identification of the genetic mutations that underlie these diseases may help to shed light on the aetiological processes involved...
  26. pmc Genome-wide association study reveals genetic risk underlying Parkinson's disease
    Javier Simon-Sanchez
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA
    Nat Genet 41:1308-12. 2009
    ..14, P = 1.55 x 10(-5)). These data demonstrate an unequivocal role for common genetic variants in the etiology of typical PD and suggest population-specific genetic heterogeneity in this disease...
  27. pmc Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia series
    Joyce van de Leemput
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland 20892, USA
    Mov Disord 25:771-3. 2010
    ..A number of coding and noncoding polymorphisms were identified but no ITPR1 mutations were found. The results indicate that point mutations in ITPR1 are at best a rare cause of ADCA III...
  28. pmc Mutational analysis of parkin and PINK1 in multiple system atrophy
    Janet A Brooks
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, 35 Convent Drive, Bethesda, MD 20892, USA
    Neurobiol Aging 32:548.e5-7. 2011
    ..Our results indicate that genetic variants at the parkin and PINK1 loci do not play a critical role in the pathogenesis of MSA...
  29. ncbi request reprint Assessment of PINK1 (PARK6) polymorphisms in Finnish PD
    Jordi Clarimon
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Building 35 Room 1A1000, MSC 3707, Bethesda, MD 20892, USA
    Neurobiol Aging 27:906-7. 2006
    ..Our results indicate that this gene does not play a major role in the genetic predisposition to PD in this population...
  30. pmc SNCA variants are associated with increased risk for multiple system atrophy
    Sonja W Scholz
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, 35 Convent Drive, Bethesda, MD 20892, USA
    Ann Neurol 65:610-4. 2009
    ..SNPs at the SNCA locus were significantly associated with risk for increased risk for the development of MSA (combined p = 5.5 x 10(-12); odds ratio 6.2) [corrected]...
  31. pmc Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal
    Jose Bras
    Laboratory of Neurogenetics, National Institutes on Aging, National Institutes of Health, Bethesda, MD 20892, USA
    Neurobiol Aging 30:1515-7. 2009
    ..These results, together with recent literature, clearly suggest a role of glucocerebrosidase in the development of Parkinson disease...
  32. pmc Alzheimer risk variant CLU and brain function during aging
    Madhav Thambisetty
    Laboratory of Behavioral Neuroscience, National Institute on Aging, National Institutes of Health, Baltimore, Maryland 21224, USA
    Biol Psychiatry 73:399-405. 2013
    ....
  33. ncbi request reprint Genomewide scans in North American families reveal genetic linkage of essential tremor to a region on chromosome 6p23
    Alexey Shatunov
    National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892 9404, USA
    Brain 129:2318-31. 2006
    ..Our findings provide evidence for linkage to a novel susceptibility locus on chromosome 6p23. Analysis of additional ET-affected families is needed to confirm linkage and identify the underlying gene...
  34. pmc Distinct DNA methylation changes highly correlated with chronological age in the human brain
    Dena G Hernandez
    Laboratory of Neurogenetics, National Institute on Aging, Baltimore, MD 20892, USA
    Hum Mol Genet 20:1164-72. 2011
    ..This suggests that specific age-related DNA methylation changes may have quite a broad impact on gene expression in the human brain...
  35. pmc A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20
    Melanie A Knight
    Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20894 3708, USA
    Hum Mol Genet 17:3847-53. 2008
    ....
  36. pmc Genome wide assessment of young onset Parkinson's disease from Finland
    Dena G Hernandez
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, United States of America
    PLoS ONE 7:e41859. 2012
    ..However, we found no evidence that would suggest a single common high penetrance mutation exists in this cohort of young onset patients...
  37. ncbi request reprint Clinical and positron emission tomography of Parkinson's disease caused by LRRK2
    Dena G Hernandez
    Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Department of Health and Human Services, Porter Neuroscience Research Center, 9000 Rockville Pike, Bethesda, MD 20892, USA
    Ann Neurol 57:453-6. 2005
    ....
  38. pmc Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis
    Janel O Johnson
    1 Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA 2
    Nat Neurosci 17:664-6. 2014
    ..We also observed MATR3 pathology in ALS-affected spinal cords with and without MATR3 mutations. Our data provide more evidence supporting the role of aberrant RNA processing in motor neuron degeneration. ..
  39. ncbi request reprint Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm
    Jordi Clarimon
    Molecular Genetics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA
    Mov Disord 22:162-6. 2007
    ..These data suggest that further examination is warranted of the role genetic variability at this locus plays in the risk for primary dystonia...
  40. pmc Cell population-specific expression analysis of human cerebellum
    Alexandre Kuhn
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA
    BMC Genomics 13:610. 2012
    ..This procedure makes use of marker gene expression and circumvents the need for additional experimental information like tissue composition...
  41. pmc Using genome-wide complex trait analysis to quantify 'missing heritability' in Parkinson's disease
    Margaux F Keller
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA
    Hum Mol Genet 21:4996-5009. 2012
    ..Our results suggest that although GWASs are a useful tool in identifying the most common variants associated with complex disease, a great deal of common variants of small effect remain to be discovered...
  42. pmc Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease
    Janel O Johnson
    Laboratory of Neurogenetics, National Institute on Ageing, National Institutes of Health, Bethesda, MD 20892, USA
    Brain 135:2875-82. 2012
    ..Clearly, this makes an excellent candidate therapy for the SLC52A2 mutation-positive patients identified here. Initial riboflavin treatment of one of these patients shows promising results...
  43. pmc Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain
    Dena G Hernandez
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892 3707, USA
    Neurobiol Dis 47:20-8. 2012
    ..These observations suggest that design of eQTL mapping experiments should consider tissue of interest for the disease or other traits studied...
  44. pmc Multiple loci are associated with white blood cell phenotypes
    Michael A Nalls
    Laboratory of Neurogenetics, Intramural Research Program, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, United States of America
    PLoS Genet 7:e1002113. 2011
    ....
  45. pmc Abundant quantitative trait loci exist for DNA methylation and gene expression in human brain
    J Raphael Gibbs
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, United States of America
    PLoS Genet 6:e1000952. 2010
    ..We believe these data, which we have made publicly available, will provide a critical step toward understanding the biological effects of genetic variation...
  46. ncbi request reprint Mutation analysis of patients with neuronal intermediate filament inclusion disease (NIFID)
    Parastoo Momeni
    Laboratory of Neurogenetics, National Institute on Aging, Porter Neuroscience Building, Building 35 Room 1A1010 35 Convent Drive, Bethesda, MD 20892, USA
    Neurobiol Aging 27:778.e1-778.e6. 2006
    ..To determine the molecular genetic contribution to this disease we performed a mutation analysis of all type IV neuronal IF, SOD1 and NUDEL genes in cases of NIFID and unaffected control cases. We found no pathogenic variants...
  47. ncbi request reprint Genomewide SNP assay reveals mutations underlying Parkinson disease
    Javier Simon-Sanchez
    Molecular Genetics Unit, National Institutes of Health, Bethesda, Maryland 20892, USA
    Hum Mutat 29:315-22. 2008
    ..All mutations were confirmed by independent gene dosage experiments. These data demonstrate the utility of this approach in the direct detection of mutations that underlie disease...
  48. ncbi request reprint Analysis of SCA-2 and SCA-3 repeats in Parkinsonism: evidence of SCA-2 expansion in a family with autosomal dominant Parkinson's disease
    Javier Simon-Sanchez
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Building 35 Room 1A100, MSC 3707, 35 Lincoln Drive, Bethesda, MD 20892, USA
    Neurosci Lett 382:191-4. 2005
    ..We identified one pathogenic expansion in SCA-2 in a North American family with autosomal dominant parkinsonism...
  49. pmc Genetic comorbidities in Parkinson's disease
    Mike A Nalls
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA
    Hum Mol Genet 23:831-41. 2014
    ..We show a strong genetically defined level of comorbidity between PD and Crohn's disease as well as between PD and schizophrenia, with likely functional consequences of associated variants occurring in brain. ..
  50. pmc Lack of replication of association between GIGYF2 variants and Parkinson disease
    Jose Bras
    Laboratory of Neurogenetics, Intramural Research Program, National Institute on Aging, Bethesda, MD 20892, USA
    Hum Mol Genet 18:341-6. 2009
    ..This suggests that mutations in GIGYF2 are not strongly related to the development of the disease in either of these populations...
  51. ncbi request reprint The dardarin G 2019 S mutation is a common cause of Parkinson's disease but not other neurodegenerative diseases
    Dena Hernandez
    Laboratory of Neurogenetics, National Institutes on Aging and of Neurological Diseases and Stroke, Bethesda, MD 20892, USA
    Neurosci Lett 389:137-9. 2005
    ..The mutation was found only in Parkinson's disease patients or their relatives and not in those with other neurodegenerative disease...
  52. ncbi request reprint Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data
    Hon Chung Fung
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA
    Lancet Neurol 5:911-6. 2006
    ....
  53. ncbi request reprint 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
    Janel Johnson
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Building 10, Room 6C103, MSC1589, Bethesda, MD 20892, USA
    Neurosci Lett 363:99-101. 2004
    ..We did not find any such mutations...
  54. pmc Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium
    Santhi K Ganesh
    National Human Genome Research Institute, Division of Intramural Research, Bethesda, MD, USA
    Nat Genet 41:1191-8. 2009
    ..This study has identified new determinants of erythrocyte traits, offering insight into common variants underlying variation in erythrocyte measures...
  55. pmc Sequencing analysis of OMI/HTRA2 shows previously reported pathogenic mutations in neurologically normal controls
    Javier Simon-Sanchez
    Molecular Genetics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA
    Hum Mol Genet 17:1988-93. 2008
    ..Our results show that neither of the variants previously related to PD were associated with PD in our cohort and that the risk variants were present in neurologically normal controls...
  56. pmc A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies
    Michael A Nalls
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA
    JAMA Neurol 70:727-35. 2013
    ..While mutations in glucocerebrosidase (GBA1) are associated with an increased risk for Parkinson disease (PD), it is important to establish whether such mutations are also a common risk factor for other Lewy body disorders...
  57. pmc Age-associated changes in gene expression in human brain and isolated neurons
    Azad Kumar
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892 3707, USA
    Neurobiol Aging 34:1199-209. 2013
    ..Overall, our results show that there is a distinct and reproducible gene signature for aging in the human brain...
  58. pmc A large study reveals no association between APOE and Parkinson's disease
    Monica Federoff
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA
    Neurobiol Dis 46:389-92. 2012
    ..Research focusing on the role of APOE in Parkinson's disease (PD) has been largely inconclusive, creating a broad discrepancy in association studies...
  59. doi request reprint Large C9orf72 repeat expansions are not a common cause of Parkinson's disease
    Elisa Majounie
    Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA
    Neurobiol Aging 33:2527.e1-2. 2012
    ..No large expansions were identified in our cohort...
  60. ncbi request reprint Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data
    Jennifer C Schymick
    Laboratory of Neurogenetics, National Institute on Aging, National Institute of Mental Health, National Institutes of Health, Bethesda, MD, USA
    Lancet Neurol 6:322-8. 2007
    ..We sought to identify genetic variants associated with an increased or decreased risk for developing ALS in a cohort of American sporadic cases...
  61. doi request reprint Susceptibility genes in movement disorders
    Sonja Scholz
    Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland 20892, USA
    Mov Disord 23:927-34; quiz 1064. 2008
    ....
  62. pmc A genome-wide genotyping study in patients with ischaemic stroke: initial analysis and data release
    Mar Matarin
    Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA
    Lancet Neurol 6:414-20. 2007
    ..We aimed to identify any common genetic variability exerting a moderate to large effect on risk of ischaemic stroke, and to generate publicly available genome-wide genotype data to facilitate others doing the same...
  63. ncbi request reprint Lack of G2019S LRRK2 mutation in a cohort of Taiwanese with sporadic Parkinson's disease
    Hon Chung Fung
    Laboratory of Neurogenetics, National Institute on Aging, Bethesda, Maryland, USA
    Mov Disord 21:880-1. 2006
    ..The extreme rarity of the G2019S mutation in our population suggests the occurrence of this mutation resulted from a common European founder...
  64. pmc Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity
    Monia B Hammer
    Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA
    Am J Hum Genet 92:245-51. 2013
    ..2618G>A [p.Arg873His]) were identified, probably resulting in nonfunctional enzyme. This study suggests GBA2 mutations are a cause of recessive spastic ataxia and responsible for a form of glucosylceramide storage disease in humans...
  65. pmc Mutational analysis of the VCP gene in Parkinson's disease
    Elisa Majounie
    Laboratory of Neurogenetics, National Institute of Aging, National Institutes of Health, Bethesda, MD, USA
    Neurobiol Aging 33:209.e1-2. 2012
    ..We identified a number of rare single nucleotide changes, including a variant previously described to be pathogenic, but no clear disease-causing variants. We conclude that mutations in VCP are not a common cause for idiopathic PD...
  66. ncbi request reprint Unaltered alpha-synuclein blood levels in juvenile Parkinsonism with a parkin exon 4 deletion
    David W Miller
    Laboratory of Neurogenetics, NIA, National Institutes of Health, Bldg 35, Rm 1A 100, 35 Convent Drive, Bethesda, MD 20892, USA
    Neurosci Lett 374:189-91. 2005
    ..We find there is not and discuss this result in terms of the putative relationships between alpha-synuclein and parkin...
  67. ncbi request reprint Paraoxonase 1 (PON1) gene polymorphisms and Parkinson's disease in a Finnish population
    Jordi Clarimon
    Molecular Genetics Section, Laboratory of Neurogenetics, National Institutes of Health, Building 10, Room 6C103, MSC 1589, 9000 Rockville Pike, Bethesda, MD 20892, USA
    Neurosci Lett 367:168-70. 2004
    ..75). Our results suggest that the M54L and Q192R polymorphisms are not major risk factors for PD in the Finnish population...
  68. pmc A case of dementia with PRNP D178Ncis-129M and no insomnia
    Rita J Guerreiro
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA
    Alzheimer Dis Assoc Disord 23:415-7. 2009
    ..To describe a dementia case clinically diagnosed as Alzheimer disease with a PRNP genotype usually associated with familial fatal insomnia...
  69. pmc A genome-wide association analysis of serum iron concentrations
    Toshiko Tanaka
    MedStar Research Institute, Baltimore, MD, USA
    Blood 115:94-6. 2010
    ..Our results confirm the association of TMPRSS6 variants with iron level and provide further evidence of association with other anemia-related phenotypes...
  70. ncbi request reprint Novel progranulin mutation: screening for PGRN mutations in a Portuguese series of FTD/CBS cases
    Rita Joao Guerreiro
    Laboratory of Neurogenetics, National Institute on Aging, NIH, Porter Neuroscience Center, Bethesda, Maryland 20852, USA
    Mov Disord 23:1269-73. 2008
    ....
  71. pmc TDP-43 is not a common cause of sporadic amyotrophic lateral sclerosis
    Rita J Guerreiro
    Laboratory of Neurogenetics, National Institute of Aging, National Institutes of Health, Bethesda, Maryland, United States of America
    PLoS ONE 3:e2450. 2008
    ..Recently, mutations in TARDBP have been linked to familial and sporadic ALS...
  72. pmc Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations
    Toshiko Tanaka
    MedStar Research Institute, Baltimore, MD 21250, USA
    Am J Hum Genet 84:477-82. 2009
    ..The ALPL gene likely influences the catabolism of vitamin B6 while FUT2 interferes with absorption of vitamin B12. These findings highlight mechanisms that affect vitamin B6, vitamin B12 and homocysteine serum levels...
  73. pmc Common variation in the beta-carotene 15,15'-monooxygenase 1 gene affects circulating levels of carotenoids: a genome-wide association study
    Luigi Ferrucci
    Longitudinal Studies Section, Clinical Research Branch, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, United States of America
    Am J Hum Genet 84:123-33. 2009
    ..002). Our findings might shed light on the controversial relationship between lipid-soluble anti-oxidant nutrients and human health...
  74. pmc A thorough assessment of benign genetic variability in GRN and MAPT
    Rita J Guerreiro
    Laboratory of Neurogenetics, National Institute of Aging, National Institutes of Health, Bethesda, Maryland 20892, USA
    Hum Mutat 31:E1126-40. 2010
    ..We found sixteen different non-synonymous changes, eleven of which are novel variants...
  75. pmc Update on blepharospasm: report from the BEBRF International Workshop
    Mark Hallett
    Human Motor Control Section, NINDS, NIH, 10 Center Drive MSC 1428, Bethesda, MD 20892 1428, USA
    Neurology 71:1275-82. 2008
    ..Physiologic studies indicate increased plasticity and trigeminal sensitization. While botulinum neurotoxin injections are the mainstay of therapy, other therapies are on the horizon...
  76. pmc Genetic susceptibility in Parkinson's disease
    Jose Miguel Bras
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MS 20892, USA
    Biochim Biophys Acta 1792:597-603. 2009
    ..This is the first of several high throughput technologies that promise to shed light on the (likely) myriad genetic factors involved in this complex, late-onset neurodegenerative disorder...
  77. pmc Genome-wide association study of plasma polyunsaturated fatty acids in the InCHIANTI Study
    Toshiko Tanaka
    MedStar Research Institute, Baltimore, MD, USA
    PLoS Genet 5:e1000338. 2009
    ..The ELOVL2 SNP was associated with docosapentanoic and DHA but not with EPA in GOLDN. These findings show that polymorphisms of genes encoding enzymes in the metabolism of PUFA contribute to plasma concentrations of fatty acids...
  78. doi request reprint Characterization of PLA2G6 as a locus for dystonia-parkinsonism
    Coro Paisan-Ruiz
    Laboratory of Neurogenetics, National Institute on Aging, Intramural Research Program, National Institutes of Health, Bethesda, MD, USA
    Ann Neurol 65:19-23. 2009
    ..Although many recessive loci causing parkinsonism dystonia have been identified, these do not explain all cases of the disorder...
  79. pmc Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance
    Fanny Mochel
    Developmental and Metabolic Neurology Branch, NINDS, NIH, Bethesda, MD 20892, USA
    Am J Hum Genet 82:652-60. 2008
    ..ISCU interacts with the Friedreich ataxia gene product frataxin in iron-sulfur cluster biosynthesis. Our results therefore extend the range of known human diseases that are caused by defects in iron-sulfur cluster biogenesis...
  80. ncbi request reprint Linkage disequilibrium and association analysis of alpha-synuclein and alcohol and drug dependence in two American Indian populations
    Jordi Clarimon
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, USA
    Alcohol Clin Exp Res 31:546-54. 2007
    ..Recent studies, in humans and in rat and monkey models, have suggested that alpha-synuclein may play a role in the development and maintenance of certain addictive disorders...
  81. ncbi request reprint A rare truncating mutation in ADH1C (G78Stop) shows significant association with Parkinson disease in a large international sample
    Silvia Buervenich
    Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden
    Arch Neurol 62:74-8. 2005
    ..In a previous study, significant association of an ADH class IV allele with Parkinson disease (PD) was found in a Swedish sample...
  82. ncbi request reprint Genetics of Parkinson's disease and parkinsonism
    John Hardy
    Laboratory of Neurogenetics, National Institute on Aging, Porter Neuroscience Building, 35 Convent Drive, Bethesda, MD 20892, USA
    Ann Neurol 60:389-98. 2006
    ....
  83. ncbi request reprint Kinase activity is required for the toxic effects of mutant LRRK2/dardarin
    Elisa Greggio
    Cell Biology and Gene Expression Unit, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892 3707, USA
    Neurobiol Dis 23:329-41. 2006
    ..We also show that dardarin protein is expressed within human midbrain neurons and that C-terminal epitopes are also found in some Lewy bodies...
  84. ncbi request reprint The tau H2 haplotype is almost exclusively Caucasian in origin
    Whitney Evans
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA
    Neurosci Lett 369:183-5. 2004
    ..We discuss this observation in terms of the origin of the H2 haplotype and the epidemiology of the tauopathies...
  85. ncbi request reprint Prion genotypes in Central America suggest selection for the V129 allele
    John Hardy
    Laboratory of Neurogenetics, National Institute on Aging, Porter Neuroscience Building, 35 Convent Drive, Bethesda, MD 20892, USA
    Am J Med Genet B Neuropsychiatr Genet 141:33-5. 2006
    ..We suggest there has been selection at the prion locus, possibly mediated by Kuru-like diseases, which has influenced its allele frequency...
  86. ncbi request reprint Exercise-induced dystonia as a preceding symptom of familial Parkinson's disease
    Michiko K Bruno
    Parkinson s Unit, Division of Neurogenetics, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA
    Mov Disord 19:228-30. 2004
    ..Further genotype-phenotype studies in this and similar families may give clues to pre-symptomatic symptoms in PD and may reflect a particular phenotype of interest for genetics studies in the future...
  87. ncbi request reprint Defining the ends of Parkin exon 4 deletions in two different families with Parkinson's disease
    Jordi Clarimon
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland 20892, USA
    Am J Med Genet B Neuropsychiatr Genet 133:120-3. 2005
    ..In addition to demonstrating that disease in these families is not caused by a single founder mutation, these data show that there is no common fragile site between these mutational events...
  88. ncbi request reprint How genetics research in Parkinson's disease is enhancing understanding of the common idiopathic forms of the disease
    Mark R Cookson
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland 20982 3707, USA
    Curr Opin Neurol 18:706-11. 2005
    ..The subject of this review is to highlight these discoveries and to discuss their relationships to idiopathic Parkinson's disease...
  89. ncbi request reprint Reporting and interpretation of genetic variants in cases and controls
    John Hardy
    Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA
    Neurology 69:111-2. 2007
  90. ncbi request reprint Taiwanese cases of SCA2 are derived from a single founder
    Parastoo Momeni
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland 20952, USA
    Mov Disord 20:1633-6. 2005
    ..In fact, our analysis showed that all SCA2 mutations carriers had the same ataxin 2 haplotype: haplotype B, which accounts for only 15% of control haplotypes, implying that there is a common founder for all Taiwanese SCA2 patients...
  91. ncbi request reprint Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation
    Stephen Hague
    Molecular Genetics Section, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA
    Ann Neurol 54:271-4. 2003
    ..This subject was diagnosed with probable PD at age 24 years with asymmetric onset and an excellent response to levodopa therapy. Our observations suggest that sequence alterations in DJ-1 are a rare cause of early-onset PD...
  92. ncbi request reprint Kinase signaling pathways as potential targets in the treatment of Parkinson's disease
    Elisa Greggio
    Cell Biology and Gene Expression Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20982, USA
    Expert Rev Proteomics 4:783-92. 2007
    ....
  93. pmc Amyotrophic lateral sclerosis: an emerging era of collaborative gene discovery
    Katrina Gwinn
    National Institute for Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, United States of America
    PLoS ONE 2:e1254. 2007
    ..This resource should facilitate genetic discoveries which we anticipate will ultimately provide a better understanding of the biological mechanisms of neurodegeneration in ALS...
  94. ncbi request reprint Torsin A haplotype predisposes to idiopathic dystonia
    Jordi Clarimon
    Laboratory of Neurogenetics, Porter Building, Bethesda, MD, USA
    Ann Neurol 57:765-7. 2005
    ..Here, using a population-based sample of dystonia cases, we show an association with the torsin A haplotype and sporadic idiopathic dystonia...
  95. ncbi request reprint Mutation of the Parkin gene in a Persian family: clinical progression over a 40-year period
    Jordi Clarimon
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland 20892, USA
    Mov Disord 20:887-90. 2005
    ..18. A homozygous deletion that expanded from exon 4 to exon 6 was identified in all the patients. Significant clinical heterogeneity was present between siblings...
  96. pmc Variation in tau isoform expression in different brain regions and disease states
    Elisa Majounie
    MRC Centre for Neuropsychatric Genetics and Genomics, Cardiff University School of Medicine, Cardiff, UK
    Neurobiol Aging 34:1922.e7-1922.e12. 2013
    ..4R-tau expression levels were related to the MAPT H1 and H1c haplotypes. Similar regional variation was seen in PSP case and in control samples...
  97. pmc Using DNA methylation to understand biological consequences of genetic variability
    Dena G Hernandez
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA
    Neurodegener Dis 9:53-9. 2012
    ..Here, we make an argument for this work, describing this opportunity, the likely path ahead, and the problems and pitfalls associated with such work...
  98. pmc Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans
    Joyce van de Leemput
    Molecular Genetics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland, United States of America
    PLoS Genet 3:e108. 2007
    ..We show here that heterozygous deletion of the 5' part of the ITPR1 gene, encompassing exons 1-10, 1-40, and 1-44 in three studied families, underlies SCA15 in humans...
  99. pmc Nature versus nurture: death of a dogma, and the road ahead
    Bryan J Traynor
    Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA
    Neuron 68:196-200. 2010
    ....
  100. pmc Application of genome-wide single nucleotide polymorphism typing: simple association and beyond
    J Raphael Gibbs
    Computational Biology Core, National Institute on Aging, National Institutes of Health, Porter Neuroscience Research Center, Bethesda, Maryland, United States of America
    PLoS Genet 2:e150. 2006
    ..In this review we will discuss the potential uses and practical application of GW-SNP typing including those above and beyond simple association testing...
  101. pmc Emerging pathways in genetic Parkinson's disease: Potential role of ceramide metabolism in Lewy body disease
    Jose Bras
    Molecular Genetics Unit, National Institutes on Aging, Bethesda, MD, USA
    FEBS J 275:5767-73. 2008
    ..Doing this, we suggest that several of the genes involved in disparate Lewy body diseases impinge on ceramide metabolism and we suggest that this may be a common theme for pathogenesis...