Frequency of C9orf72 hexanucleotide repeat expansion and SOD1 mutations in Portuguese patients with amyotrophic lateral sclerosis

Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek, Konrad J. Karczewski, Eric Vallabh Minikel et al. · Nature · 2016 · 10.3K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

D.R. Rosen, Teepu Siddique, David T. Patterson et al. · Nature · 1993 · 7K citations

Life Sciences, Genetics, Neuroscience +14

Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia

Katya Rascovsky, John R. Hodges, David S. Knopman et al. · Brain · 2011 · 5.3K citations · Full text

Medicine, Neurology, Psychiatry +17

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

Alan E. Renton, Elisa Majounie, Adrian J. Waite et al. · Neuron · 2011 · 4.5K citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

SIFT web server: predicting effects of amino acid substitutions on proteins

Ngak-Leng Sim, P. Naresh Kumar, Jing Hu et al. · Nucleic Acids Research · 2012 · 2.5K citations · Full text

Life Sciences, Bioinformatics, Genetics +12