User profiles for "author:Bryan Traynor"
Bryan TraynorLaboratory of Neurogenetics, National Institute on Aging Verified email at mail.nih.gov Cited by 44967 |
State of play in amyotrophic lateral sclerosis genetics
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 …
lateral sclerosis (ALS), the most common form of adult-onset motor neuron disease and the …
Prognostic factors in ALS: a critical review
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 …
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 …
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
The chromosome 9p21 amyotrophic lateral sclerosis-frontotemporal dementia (ALS-FTD)
locus contains one of the last major unidentified autosomal-dominant genes underlying …
locus contains one of the last major unidentified autosomal-dominant genes underlying …
Genome-wide association study reveals genetic risk underlying Parkinson's disease
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 …
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 …
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 …
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 …
expansion in C9orf72 that has been associated with a large proportion of cases of …
Incidence of amyotrophic lateral sclerosis in Europe
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 …
have been reported in the literature but comparisons across previous studies are limited by …
Genotype, haplotype and copy-number variation in worldwide human populations
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 …
uncovering the history of migration, range expansion, and adaptation of the human species …