Nicola J. Rutherford
Vanderbilt University Medical Center(US)
Publications by Year
Research Areas
Amyotrophic Lateral Sclerosis Research, Parkinson's Disease Mechanisms and Treatments, Alzheimer's disease research and treatments, Neurogenetic and Muscular Disorders Research, Genetic Neurodegenerative Diseases
Most-Cited Works
- → Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS(2011)4,922 cited
- → Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids(2011)571 cited
- → Novel Mutations in TARDBP (TDP-43) in Patients with Familial Amyotrophic Lateral Sclerosis(2008)461 cited
- → Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics(2012)400 cited
- → Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72(2012)347 cited
- → Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72(2011)293 cited
- → Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia(2008)292 cited
- → TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers(2010)241 cited
- → Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p(2012)218 cited
- → Frontotemporal dementia due toC9ORF72mutations(2012)213 cited