Penny J. Norsworthy
33 Cleveland Street, W1W 7FF
London, ENG, United Kingdom
London, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 13 publications
Exome analysis of 22,319 individuals links extremely rare copy-number variants and 22q11.21 dosage to Alzheimer risk.
Journal: American journal of human genetics
Published: April 20, 2026
Identification of novel risk loci and causal insights for sporadic Creutzfeldt-Jakob disease: a genome-wide association study.
Journal: The Lancet. Neurology
Published: April 13, 2020
A blood miRNA signature associates with sporadic Creutzfeldt-Jakob disease diagnosis.
Journal: Nature communications
Published: October 31, 2019
Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series.
Journal: Molecular psychiatry
Published: January 26, 2018
The clinical, neuroanatomical, and neuropathologic phenotype of TBK1-associated frontotemporal dementia: A longitudinal case report.
Journal: Alzheimer's & dementia (Amsterdam, Netherlands)
Published: February 24, 2017
Genetic, physiological and comparative genomic studies of hypertension and insulin resistance in the spontaneously hypertensive rat.
Journal: Disease models & mechanisms
Published: June 27, 2016
Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 20, 2015
Iatrogenic CJD due to pituitary-derived growth hormone with genetically determined incubation times of up to 40 years.
Journal: Brain : a journal of neurology
Published: May 01, 2015
Identification and biochemical analysis of a novel APOB mutation that causes autosomal dominant hypercholesterolemia.
Journal: Molecular genetics & genomic medicine
Published: January 23, 2013
Last Updated: 09/26/2026