review Open AccessTop 1% cited
State of play in amyotrophic lateral sclerosis genetics
Nature Neuroscience · 2013 · Vol. 17(1) · pp. 17–23
Alan E. Renton(National Institutes of Health)Adriano Chiò(University of Turin)Bryan J. Traynor✉(Johns Hopkins University)
Amyotrophic Lateral Sclerosis ResearchNeurogenetic and Muscular Disorders ResearchNeurological diseases and metabolismAmyotrophic lateral sclerosisC9orf72TARDBPSOD1DiseaseNeuroscienceBiologyGenome-wide association studyGenetic associationGenetics
MeSH terms
Autophagy-Related ProteinsSuperoxide Dismutase-1C9orf72 ProteinAmyotrophic Lateral SclerosisDNA-Binding ProteinsHumansMutationProteinsSuperoxide DismutaseUbiquitinsCell Cycle ProteinsGenetic Predisposition to DiseaseMembrane Transport ProteinsRNA-Binding Protein FUSTranscription Factor TFIIIA
Citations
1,524
FWCI
73.10
field-weighted impact
References
103
Percentile
100%
vs. same field & year
Citations per year
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References
DNA/RNA Helicase Gene Mutations in a Form of Juvenile Amyotrophic Lateral Sclerosis (ALS4)
The American Journal of Human Genetics · 2004 · 810 citations
Pathological TDP‐43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with <i>SOD1</i> mutations
Annals of Neurology · 2007 · 982 citations
A Mutation in the Vesicle-Trafficking Protein VAPB Causes Late-Onset Spinal Muscular Atrophy and Amyotrophic Lateral Sclerosis
The American Journal of Human Genetics · 2004 · 973 citations
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
The Lancet Neurology · 2012 · 1,213 citations
A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
Neuron · 2011 · 4,424 citations
Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS
Neuron · 2011 · 4,922 citations
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