Gordana Kovacevic

Belgrade, SE, Serbia

Last Updated: 09/26/2026

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Found 13 publications

The Diagnostic Journey from Rhabdomyolysis to Myopathy with Tubular Aggregates: A Family-Based Case Report and Review of the Literature.

The Diagnostic Journey from Rhabdomyolysis to Myopathy with Tubular Aggregates: A Family-Based Case Report and Review of the Literature.

Journal: Pediatric reports

Published: May 18, 2026

From Suspected Congenital Cytomegalovirus Infection to Malan Syndrome: Delayed Genetic Diagnosis Due to Diagnostic Anchoring.

From Suspected Congenital Cytomegalovirus Infection to Malan Syndrome: Delayed Genetic Diagnosis Due to Diagnostic Anchoring.

Journal: Diseases (Basel, Switzerland)

Published: April 26, 2026

Neuromuscular Disorders in Children Through the Lens of Next-Generation Sequencing: A Study of Diagnostic Yield.

Neuromuscular Disorders in Children Through the Lens of Next-Generation Sequencing: A Study of Diagnostic Yield.

Journal: International journal of molecular sciences

Published: March 23, 2026

Multi-Center National Study of Genotype-Phenotype Correlation and Clinical Characteristics in Children and Young Adults with Friedreich's Ataxia from Serbia.

Multi-Center National Study of Genotype-Phenotype Correlation and Clinical Characteristics in Children and Young Adults with Friedreich's Ataxia from Serbia.

Journal: Biomedicines

Published: September 09, 2025

Missense variants in TUBA4A cause myo-tubulinopathies.

Missense variants in TUBA4A cause myo-tubulinopathies.

Journal: medRxiv : the preprint server for health sciences

Published: July 16, 2025

Missense variants in TUBA4A cause myo-tubulinopathies.

Missense variants in TUBA4A cause myo-tubulinopathies.

Journal: Brain : a journal of neurology

Published: June 26, 2025

Evaluation of Sleep-Disordered Breathing and Respiratory Dysfunction in Children with Myotonic Dystrophy Type 1-A Retrospective Cross-Sectional Study.

Evaluation of Sleep-Disordered Breathing and Respiratory Dysfunction in Children with Myotonic Dystrophy Type 1-A Retrospective Cross-Sectional Study.

Journal: Biomedicines

Published: February 20, 2025

VCP variants cause Adams-Oliver syndrome with or without pulmonary hypertension.

VCP variants cause Adams-Oliver syndrome with or without pulmonary hypertension.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: November 28, 2024

Mutations in VCP cause Adams-Oliver syndrome with or without pulmonary hypertension.

Mutations in VCP cause Adams-Oliver syndrome with or without pulmonary hypertension.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: November 28, 2024

Very early and severe presentation of Triple A syndrome - case report and review of the literature.

Very early and severe presentation of Triple A syndrome - case report and review of the literature.

Journal: Frontiers in endocrinology

Published: May 11, 2024

Main features and disease outcome of congenital myotonic dystrophy - experience from a single tertiary center.

Main features and disease outcome of congenital myotonic dystrophy - experience from a single tertiary center.

Journal: Neuromuscular disorders : NMD

Published: February 11, 2024

LTBP4, SPP1, and CD40 Variants: Genetic Modifiers of Duchenne Muscular Dystrophy Analyzed in Serbian Patients.

LTBP4, SPP1, and CD40 Variants: Genetic Modifiers of Duchenne Muscular Dystrophy Analyzed in Serbian Patients.

Journal: Genes

Published: June 28, 2022

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Last Updated: 09/26/2026