Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
2012 · The Lancet Neurology · 1,213 citations
https://doi.org/10.1016/s1474-4422(12)70043-1
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Adrian J. Waite
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Adrian J. Waite is an academic researcher from North Bristol NHS Trust. The author has contributed to research in topics: Parkinson's Disease Mechanisms and Treatments & Amyotrophic Lateral Sclerosis Research & Neurological disorders and treatments. The author has an h-index of 24, co-authored 28 publications.
ORCID: 0000-0001-6447-2611Papers by this author
worksReduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion
2014 · Neurobiology of Aging · 271 citations
https://doi.org/10.1016/j.neurobiolaging.2014.01.016
Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia
2013 · Acta Neuropathologica · 133 citations
https://doi.org/10.1007/s00401-013-1147-0
The chromosome 9 ALS and FTD locus is probably derived from a single founder
2011 · Neurobiology of Aging · 128 citations
https://doi.org/10.1016/j.neurobiolaging.2011.08.005
SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype
2014 · Journal of Neurology · 70 citations
https://doi.org/10.1007/s00415-014-7488-3
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project
2024 · The American Journal of Human Genetics · 29 citations
https://doi.org/10.1016/j.ajhg.2024.04.018
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