Nicola J. Rutherford

Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids

Rosa Rademakers, Matt Baker, Alexandra M. Nicholson et al. · Nature Genetics · 2011 · 566 citations · Full text

Inflammation, Disease Mechanism, Pathogenesis +8

Novel Mutations in TARDBP (TDP-43) in Patients with Familial Amyotrophic Lateral Sclerosis

Nicola J. Rutherford, Yong‐Jie Zhang, Matt Baker et al. · PLoS Genetics · 2008 · 458 citations · Full text

Neurodegenerative Diseases, Ubiquitin Inclusions, Amyotrophic Lateral Sclerosis +13

Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics

Jennifer L. Whitwell, Stephen D. Weigand, Bradley F. Boeve et al. · Brain · 2012 · 399 citations · Full text

Corticobasal Degeneration, Genetics, Neurochemical Biomarkers +17

Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72

Bradley F. Boeve, Neill R. Graff‐Radford, Mariely DeJesus‐Hernandez et al. · Brain · 2012 · 346 citations · Full text

Motor Neuron Disease, Corticobasal Degeneration, Genetics +17

Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72

Melissa E. Murray, Mariely DeJesus‐Hernandez, Nicola J. Rutherford et al. · Acta Neuropathologica · 2011 · 292 citations

Neurodegenerative Diseases, Amyotrophic Lateral Sclerosis, Pathology +7