Stephanie V. Lilja
Vienna, Austria
Last Updated: 09/26/2026
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Found 8 publications
Impact of Inner Retinal Layer Thinning on Visual Function in OPA1 Autosomal Dominant Optic Atrophy and Associations With Age and Genetic Variant Class.
Journal: Investigative ophthalmology & visual science
Published: April 07, 2026
Phenotypic variability in female individuals with the NAA10 missense variants p.(L126R), p.(L126V), or p.(F128L) leading to NAA10-related syndrome.
Journal: Molecular and cellular pediatrics
Published: December 01, 2025
A recurrent missense variant in the PPIB gene encoding peptidylprolyl isomerase B underlies adult-onset autosomal dominant optic atrophy.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 22, 2025
Developmental, Cognitive, Ocular Motor, and Neuroimaging Findings Related to SUFU Haploinsufficiency: Unraveling Subtle and Highly Variable Phenotypes.
Journal: Pediatric neurology
Published: January 14, 2024
MiRNA-based "fitness score" to assess the individual response to diet, metabolism, and exercise.
Journal: Journal of the International Society of Sports Nutrition
Published: August 08, 2022
PGC-1α Methylation, miR-23a, and miR-30e Expression as Biomarkers for Exercise- and Diet-Induced Mitochondrial Biogenesis in Capillary Blood from Healthy Individuals: A Single-Arm Intervention.
Journal: Sports (Basel, Switzerland)
Published: April 07, 2022
Five Days Periodic Fasting Elevates Levels of Longevity Related Christensenella and Sirtuin Expression in Humans.
Journal: International journal of molecular sciences
Published: December 31, 2020
Epigallocatechin Gallate Effectively Affects Senescence and Anti-SASP via SIRT3 in 3T3-L1 Preadipocytes in Comparison with Other Bioactive Substances.
Journal: Oxidative medicine and cellular longevity
Published: July 24, 2020
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Last Updated: 09/26/2026