Shlomit Ezer
Jerusalem, JM, Israel
Last Updated: 09/26/2026
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Found 9 publications
Allele-specific antisense oligonucleotide treatment rescues atad3-associated phenotype in zebrafish.
Allele-specific antisense oligonucleotide treatment rescues atad3-associated phenotype in zebrafish.
Journal: bioRxiv : the preprint server for biology
Published: June 04, 2026
Exploring the unique characteristics of genes with dual autosomal dominant and recessive inheritance: mechanisms, phenotypes and candidate identification.
Journal: Journal of medical genetics
Published: April 21, 2025
Improving mitochondria-associated endoplasmic reticulum membranes integrity as converging therapeutic strategy for rare neurodegenerative diseases and cancer.
Journal: Biochimica et biophysica acta. Molecular cell research
Published: November 28, 2024
Transcriptome analysis of atad3-null zebrafish embryos elucidates possible disease mechanisms.
Journal: Orphanet journal of rare diseases
Published: July 05, 2024
Intellectual disability syndrome associated with a homozygous founder variant in SGSM3 in Ashkenazi Jews.
Journal: Journal of medical genetics
Published: July 10, 2023
Carrier screening for Krabbe disease in an isolated inbred community.
Journal: American journal of medical genetics. Part A
Published: February 11, 2022
Infantile SOD1 deficiency syndrome caused by a homozygous SOD1 variant with absence of enzyme activity.
Journal: Brain : a journal of neurology
Published: June 21, 2021
Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes.
Journal: Genome medicine
Published: July 06, 2020
Showing 1-9 of 9
Last Updated: 09/26/2026