User profiles for "author:Bryan Traynor"

Bryan Traynor

Laboratory of Neurogenetics, National Institute on Aging
Verified email at mail.nih.gov
Cited by 44967

State of play in amyotrophic lateral sclerosis genetics

AE Renton, A Chiò, BJ Traynor - Nature neuroscience, 2014 - nature.com
Considerable progress has been made in unraveling the genetic etiology of amyotrophic
lateral sclerosis (ALS), the most common form of adult-onset motor neuron disease and the …

Prognostic factors in ALS: a critical review

A Chio, G Logroscino, O Hardiman… - Amyotrophic lateral …, 2009 - Taylor & Francis
We have performed a systematic review to summarize current knowledge concerning factors
related to survival in ALS and to evaluate the implications of these data for clinical trials …

Controversies and priorities in amyotrophic lateral sclerosis

MR Turner, O Hardiman, M Benatar, BR Brooks… - The Lancet …, 2013 - thelancet.com
Two decades after the discovery that 20% of familial amyotrophic lateral sclerosis (ALS)
cases were linked to mutations in the superoxide dismutase-1 (SOD1) gene, a substantial …

[PDF][PDF] A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

AE Renton, E Majounie, A Waite, J Simón-Sánchez… - Neuron, 2011 - cell.com
The chromosome 9p21 amyotrophic lateral sclerosis-frontotemporal dementia (ALS-FTD)
locus contains one of the last major unidentified autosomal-dominant genes underlying …

Genome-wide association study reveals genetic risk underlying Parkinson's disease

J Simon-Sanchez, C Schulte, JM Bras, M Sharma… - Nature …, 2009 - nature.com
We performed a genome-wide association study (GWAS) in 1,713 individuals of European
ancestry with Parkinson's disease (PD) and 3,978 controls. After replication in 3,361 cases …

Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS

HJ Kim, NC Kim, YD Wang, EA Scarborough, J Moore… - Nature, 2013 - nature.com
Algorithms designed to identify canonical yeast prions predict that around 250 human
proteins, including several RNA-binding proteins associated with neurodegenerative …

[PDF][PDF] Exome sequencing reveals VCP mutations as a cause of familial ALS

JO Johnson, J Mandrioli, M Benatar, Y Abramzon… - Neuron, 2010 - cell.com
Using exome sequencing, we identified a p. R191Q amino acid change in the valosin-
containing protein (VCP) gene in an Italian family with autosomal dominantly inherited …

[HTML][HTML] Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

E Majounie, AE Renton, K Mok, EGP Dopper… - The Lancet …, 2012 - thelancet.com
Background 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 …

Incidence of amyotrophic lateral sclerosis in Europe

G Logroscino, BJ Traynor, O Hardiman… - Journal of Neurology …, 2010 - jnnp.bmj.com
Background Geographical differences in the incidence of amyotrophic lateral sclerosis (ALS)
have been reported in the literature but comparisons across previous studies are limited by …

Genotype, haplotype and copy-number variation in worldwide human populations

M Jakobsson, SW Scholz, P Scheet, JR Gibbs… - Nature, 2008 - nature.com
Genome-wide patterns of variation across individuals provide a powerful source of data for
uncovering the history of migration, range expansion, and adaptation of the human species …