G‐quadruplex‐binding small molecules ameliorate <i>C9orf72</i> <scp>FTD</scp> / <scp>ALS</scp> pathology <i>in vitro</i> and <i>in vivo</i>
2017 · EMBO Molecular Medicine · 212 citations
https://doi.org/10.15252/emmm.201707850
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James M. Polke
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James M. Polke is an academic researcher from National Hospital for Neurology and Neurosurgery. The author has contributed to research in topics: Hereditary Neurological Disorders & Genetic Neurodegenerative Diseases & Mitochondrial Function and Pathology. The author has an h-index of 34, co-authored 97 publications.
ORCID: 0000-0002-9091-7132Papers by this author
worksHomozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia
2013 · Acta Neuropathologica · 133 citations
https://doi.org/10.1007/s00401-013-1147-0
Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines
2022 · European Journal of Human Genetics · 75 citations
https://doi.org/10.1038/s41431-022-01249-w
Normal and pathogenic variation of <i>RFC1</i> repeat expansions: implications for clinical diagnosis
2023 · Brain · 67 citations
https://doi.org/10.1093/brain/awad240
Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion
2014 · Neurobiology of Aging · 62 citations
https://doi.org/10.1016/j.neurobiolaging.2014.07.037
High frequency of the expanded C9ORF72 hexanucleotide repeat in familial and sporadic Greek ALS patients
2012 · Neurobiology of Aging · 48 citations
https://doi.org/10.1016/j.neurobiolaging.2012.02.021
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