Alina J. Radziwon
Edmonton, AB, Canada
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 13 publications
Peroxisome dysfunction alters metabolism of photoreceptor outer segments in human retinal pigment epithelium.
Journal: bioRxiv : the preprint server for biology
Published: February 12, 2026
Identification of Two Novel Mutations in the CHM Gene Causing Choroideremia.
Journal: American journal of medical genetics. Part A
Published: October 20, 2025
Inferior sectoral chorioretinopathy in two patients with novel heterozygous KIF11 mutations.
Journal: Ophthalmic genetics
Published: January 13, 2025
AAV2-Mediated Gene Therapy for Choroideremia: 5-Year Results and Alternate Anti-sense Oligonucleotide Therapy.
Journal: American journal of ophthalmology
Published: July 09, 2022
PEX6 Mutations in Peroxisomal Biogenesis Disorders: An Usher Syndrome Mimic.
Journal: Ophthalmology science
Published: January 18, 2021
Whole exome sequencing reveals putatively novel associations in retinopathies and drusen formation.
Journal: European journal of human genetics : EJHG
Published: August 18, 2020
A novel SVA retrotransposon insertion in the CHM gene results in loss of REP-1 causing choroideremia.
Journal: Ophthalmic genetics
Published: May 23, 2020
Duckweed (Lemna minor) and Alfalfa (Medicago sativa) as Bacterial Infection Model Systems.
Journal: Methods in molecular biology (Clifton, N.J.)
Published: December 21, 2018
Crystals and Fatty Acid Abnormalities Are Not Present in Circulating Cells From Choroideremia Patients.
Journal: Investigative ophthalmology & visual science
Published: September 08, 2018
Two-Year Results After AAV2-Mediated Gene Therapy for Choroideremia: The Alberta Experience.
Journal: American journal of ophthalmology
Published: April 20, 2018
Single-base substitutions in the CHM promoter as a cause of choroideremia.
Journal: Human mutation
Published: August 25, 2016
Last Updated: 09/26/2026