Hereditary Sensory Neuropathy Type 1 Is Caused by the Accumulation of Two Neurotoxic Sphingolipids
2010 · Journal of Biological Chemistry · 373 citations
https://doi.org/10.1074/jbc.m109.092973
M
Mary M. Reilly
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Mary M. Reilly 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 & Neurological diseases and metabolism. The author has an h-index of 81, co-authored 717 publications.
ORCID: 0000-0003-0686-905XPapers by this author
worksHomocysteine and Coronary Heart Disease: Meta-analysis of MTHFR Case-Control Studies, Avoiding Publication Bias
2012 · PLoS Medicine · 210 citations
https://doi.org/10.1371/journal.pmed.1001177
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
2021 · European Journal of Human Genetics · 101 citations
https://doi.org/10.1038/s41431-021-00859-0
A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families
2020 · Brain · 92 citations
https://doi.org/10.1093/brain/awaa263
Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data
2018 · Scientific Reports · 90 citations
https://doi.org/10.1038/s41598-017-14403-y
Enrichment of SARM1 alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders
2021 · eLife · 81 citations
https://doi.org/10.7554/elife.70905
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