Katherine E. Lewis
Westmead, NSW, Australia
Last Updated: 09/26/2026
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Found 16 publications
'Fighting every day': exploring caregiver quality of life and perspectives on healthcare services for children with dementia - a cross-sectional, mixed-methods study.
Journal: Archives of disease in childhood
Published: September 17, 2024
Characterizing Common Phenotypes Across the Childhood Dementia Disorders: A Cross-sectional Study From Two Australian Centers.
Journal: Pediatric neurology
Published: June 07, 2023
Mongolian spots in a sick patient-A diagnosis of infantile GM1 gangliosidosis.
Journal: The Australasian journal of dermatology
Published: May 06, 2023
Intronic variants in inborn errors of metabolism: Beyond the exome.
Journal: Frontiers in genetics
Published: August 30, 2022
Hospital accreditation: an umbrella review.
Journal: International journal for quality in health care : journal of the International Society for Quality in Health Care
Published: May 02, 2022
New insights into carnitine-acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches.
Journal: Journal of inherited metabolic disease
Published: October 01, 2020
Mislocalisation of TDP-43 to the cytoplasm causes cortical hyperexcitability and reduced excitatory neurotransmission in the motor cortex.
Journal: Journal of neurochemistry
Published: June 11, 2020
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
Journal: Human mutation
Published: October 30, 2018
Translating SOD1 Gene Silencing toward the Clinic: A Highly Efficacious, Off-Target-free, and Biomarker-Supported Strategy for fALS.
Journal: Molecular therapy. Nucleic acids
Published: February 08, 2018
Viral delivery of C9orf72 hexanucleotide repeat expansions in mice leads to repeat-length-dependent neuropathology and behavioural deficits.
Journal: Disease models & mechanisms
Published: March 07, 2017
C9orf72 expansion disrupts ATM-mediated chromosomal break repair.
Journal: Nature neuroscience
Published: September 28, 2016
Last Updated: 09/26/2026