Maja Stojiljkovic

Belgrade, SE, Serbia

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 49 publications

RHOBTB2-Associated Neurological Phenotypes and Underlying Mechanisms: Alternating Hemiplegia of Childhood Beyond ATP1A3.

RHOBTB2-Associated Neurological Phenotypes and Underlying Mechanisms: Alternating Hemiplegia of Childhood Beyond ATP1A3.

Journal: Diseases (Basel, Switzerland)

Published: April 27, 2026

First Reported Use of Recombinant Parathyroid Hormone in Kenny-Caffey Syndrome Type 2: A Case Report and Literature Review.

First Reported Use of Recombinant Parathyroid Hormone in Kenny-Caffey Syndrome Type 2: A Case Report and Literature Review.

Journal: Diseases (Basel, Switzerland)

Published: January 09, 2026

Clinical and Genetic Profile of 35 Patients with Glycogen Storage Disease Type 1b: A Comparative Analysis Before and During SGLT2 Inhibitor Therapy.

Clinical and Genetic Profile of 35 Patients with Glycogen Storage Disease Type 1b: A Comparative Analysis Before and During SGLT2 Inhibitor Therapy.

Journal: Molecular diagnosis & therapy

Published: May 29, 2025

Genomic profiling, implications for genotype-based treatment of 131 patients with phenylketonuria and characterization of novel p.Pro416Leu PAH variant.

Genomic profiling, implications for genotype-based treatment of 131 patients with phenylketonuria and characterization of novel p.Pro416Leu PAH variant.

Journal: Scientific reports

Published: February 17, 2025

Transcriptome Profiling of Phenylalanine-Treated Human Neuronal Model: Spotlight on Neurite Impairment and Synaptic Connectivity.

Transcriptome Profiling of Phenylalanine-Treated Human Neuronal Model: Spotlight on Neurite Impairment and Synaptic Connectivity.

Journal: International journal of molecular sciences

Published: July 30, 2024

Phenylbutyric Acid Modulates Apoptosis and ER Stress-Related Gene Expression in Glycogen Storage Disease Type Ib In Vitro Model.

Phenylbutyric Acid Modulates Apoptosis and ER Stress-Related Gene Expression in Glycogen Storage Disease Type Ib In Vitro Model.

Journal: Molecular genetics & genomic medicine

Published: July 10, 2024

Seven-Year Longitudinal Study: Clinical Evaluation of Knee Osteoarthritic Patients Treated with Mesenchymal Stem Cells.

Seven-Year Longitudinal Study: Clinical Evaluation of Knee Osteoarthritic Patients Treated with Mesenchymal Stem Cells.

Journal: Journal of clinical medicine

Published: June 04, 2024

Characterization of 13 Novel Genetic Variants in Genes Associated with Epilepsy: Implications for Targeted Therapeutic Strategies.

Characterization of 13 Novel Genetic Variants in Genes Associated with Epilepsy: Implications for Targeted Therapeutic Strategies.

Journal: Molecular diagnosis & therapy

Published: May 26, 2024

Comparison of the ABC and ACMG systems for variant classification.

Comparison of the ABC and ACMG systems for variant classification.

Journal: European journal of human genetics : EJHG

Published: December 19, 2023

The Role of Autophagy and Apoptosis in Affected Skin and Lungs in Patients with Systemic Sclerosis.

The Role of Autophagy and Apoptosis in Affected Skin and Lungs in Patients with Systemic Sclerosis.

Journal: International journal of molecular sciences

Published: May 25, 2023

Molecular Biomarkers in Perthes Disease: A Review.

Molecular Biomarkers in Perthes Disease: A Review.

Journal: Diagnostics (Basel, Switzerland)

Published: December 18, 2022

Crosstalk between Glycogen-Selective Autophagy, Autophagy and Apoptosis as a Road towards Modifier Gene Discovery and New Therapeutic Strategies for Glycogen Storage Diseases.

Crosstalk between Glycogen-Selective Autophagy, Autophagy and Apoptosis as a Road towards Modifier Gene Discovery and New Therapeutic Strategies for Glycogen Storage Diseases.

Journal: Life (Basel, Switzerland)

Published: July 16, 2022

Showing 1-12 of 49

Last Updated: 09/26/2026