Prof Kathryn North
Honorary (Professorial Fellow)
Department of Paediatrics
563 Scholarly works
0 Projects
HIGHLIGHTS
2016
Journal article
No evidence of a common DNA variant profile specific to world class endurance athletes
DOI: 10.1371/journal.pone.01473302014
Journal article
Ataluren treatment of patients with nonsense mutation dystrophinopathy
DOI: 10.1002/mus.243322007
Journal article
Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans
DOI: 10.1038/ng21222005
Journal article
The nature and frequency of cognitive deficits in children with neurofibromatosis type 1
DOI: 10.1212/01.wnl.0000179303.72345.ce2003
Journal article
ACTN3 genotype is associated with human elite athletic performance
DOI: 10.1086/3775902000
Journal article
Mutations in ACTN4, encoding α-actinin-4, cause familial focal segmental glomerulosclerosis
DOI: 10.1038/734561999
Journal article
A common nonsense mutation results in α-actinin-3 deficiency in the general population [1]
DOI: 10.1038/7675
RECENT SCHOLARLY WORKS
2026
Journal article
Socially oriented attention in young children with neurofibromatosis type 1: An eye-tracking study
DOI: 10.1111/dmcn.164972026
Journal article
Sleep-Wake Dysregulation and Altered Melatonin in Neurofibromatosis Type 1.
DOI: 10.1093/sleep/zsag0372026
Journal article
NF1-Specific Growth Charts for Head Circumference Over the First 3 Years of Life
DOI: 10.1212/WNL.00000000002144802026
Journal article
Twisting Paths: The Paradox of Fiber Branching in Muscle Regeneration
DOI: 10.3390/ijms270206842025
Journal article
International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease
DOI: 10.1038/s41525-025-00474-82025
Journal article
Generation Victoria (GenV): protocol for a longitudinal birth cohort of Victorian children and their parents
DOI: 10.1186/s12889-024-21108-12025
Journal article
ACTN3 genotype influences androgen response in developing murine skeletal muscle
DOI: 10.1126/sciadv.adw10592025
Journal article
Psychosocial functioning and determinants of the health-related quality of life in children with neurofibromatosis type 1 and cognitive impairments
DOI: 10.1007/s11060-025-05024-x