Genomes and Genes
B J Traynor
Affiliation: National Institutes of Health
- Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional studyElisa Majounie
Molecular Genetics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA
Lancet Neurol 11:323-30. 2012..We aimed to accurately estimate the frequency of a hexanucleotide repeat expansion in C9orf72 that has been associated with a large proportion of cases of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD)...
- Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTDParastoo 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...
- Genome-wide association reveals three SNPs associated with sporadic amyotrophic lateral sclerosis through a two-locus analysisQiuying Sha
Department of Mathematical Sciences, Michigan Technological University, Houghton, MI, USA
BMC Med Genet 10:86. 2009..About 95% of ALS patients are in "sporadic form"-meaning their disease is not associated with a family history of the disease. To date, the genetic factors of the sporadic form of ALS are poorly understood...
- The era of genomic epidemiologyBryan J Traynor
Neuromuscular Diseases Research Group, Laboratory of Neurogenetics, NIA, and Neurogenetics Branch, NINDS, Bethesda, MD 20892 3720, USA
Neuroepidemiology 33:276-9. 2009....
- Kinesin-associated protein 3 (KIFAP3) has no effect on survival in a population-based cohort of ALS patientsBryan J Traynor
Molecular Genetics Section, and Cell Biology and Gene Expression Unit, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA
Proc Natl Acad Sci U S A 107:12335-8. 2010..47) or on gene expression in that region. These data illustrate the complexities associated with analyzing ALS phenotypes for association...
- Neuroprotective agents for clinical trials in ALS: a systematic assessmentB J Traynor
Neurology Clinical Trials Unit, Department of Neurology, Massachusetts General Hospital, Boston, USA
Neurology 67:20-7. 2006..Riluzole is currently the only Food and Drug Administration-approved treatment for ALS, but its effect on survival is modest...
- Extended tracts of homozygosity identify novel candidate genes associated with late-onset Alzheimer's diseaseM A Nalls
Molecular Genetics Section and Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Building 35, Room 1A1014, 35 Convent Drive, Bethesda, MD 20892, USA
Neurogenetics 10:183-90. 2009..052-0.062). This research suggests a recessive component to the etiology of LOAD...
- Descriptive epidemiology of amyotrophic lateral sclerosis: new evidence and unsolved issuesG Logroscino
Department of Epidemiology HSPH 3 819 Harvard University, 677 Huntington Avenue, Boston, Massachusetts 02115, USA
J Neurol Neurosurg Psychiatry 79:6-11. 2008....
- Functional outcome measures as clinical trial endpoints in ALSB J Traynor
Neurology Clinical Trials Unit, Department of Neurology, Massachusetts General Hospital, Boston, MA, USA
Neurology 63:1933-5. 2004..Rates of FVC% and ALFRS decline, but not of MVIC-arm or MVIC-grip, were independent predictors of survival...
- Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis-frontotemporal dementia phenotypesJ C Schymick
Laboratory of Neurogenetics, National Institute of Aging, NIH, Bethesda, Maryland, USA
J Neurol Neurosurg Psychiatry 78:754-6. 2007..Clinical and pathological overlap between amyotrophic lateral sclerosis (ALS) and FTD prompted us to screen PGRN in patients with ALS and ALS-FTD...
- Prevalence of SOD1 mutations in the Italian ALS populationA Chio
ALS Center, Department of Neuroscience, University of Torino, Via Cherasco 15, Torino 10126, Italy
Neurology 70:533-7. 2008..However, estimates of SOD1 mutation prevalence have been exclusively based on case series and clinic referral cohorts...
- Genetics of sporadic amyotrophic lateral sclerosisJ C Schymick
Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford OX1 3QX, UK
Hum Mol Genet 16:R233-42. 2007..We also review whole genome association studies of ALS and discuss the potential of this methodology for identifying genes relevant to motor neuron degeneration...
- Epidemiology and clinical features of amyotrophic lateral sclerosis in Ireland between 1995 and 2004O O'Toole
Department of Neurology, Beaumont Hospital, and and RCSI, Dublin 9, Ireland
J Neurol Neurosurg Psychiatry 79:30-2. 2008..We conducted a prospective, population based study to examine trends in incidence and prevalence of amyotrophic lateral sclerosis (ALS) in Ireland from 1995 to 2004...
- A novel candidate region for ALS on chromosome 14q11.2M J Greenway
Department of Clinical Neurological Sciences, Royal College of Surgeons in Ireland
Neurology 63:1936-8. 2004..These observations propose a candidate region for ALS on chromosome 14q11.2 and suggest that other genes with similar function to VEGF may be important in the pathogenesis of ALS...
- Effect of a multidisciplinary amyotrophic lateral sclerosis (ALS) clinic on ALS survival: a population based study, 1996-2000B J Traynor
Department of Neurology, Beaumont Hospital, Dublin, Ireland
J Neurol Neurosurg Psychiatry 74:1258-61. 2003..The impact of multidisciplinary management has not been previously evaluated...