Malgorzata E. Makaruk-Bednarska

Warsaw, MZ, Poland

Last Updated: 09/26/2026

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Found 30 publications

A Novel Exon Duplication in the SACS Gene in Charlevoix-Saguenay Ataxia and a Summary of Polish Cases.

A Novel Exon Duplication in the SACS Gene in Charlevoix-Saguenay Ataxia and a Summary of Polish Cases.

Journal: The application of clinical genetics

Published: July 03, 2025

Autosomal dominant myopathy caused by a novel ISCU variant.

Autosomal dominant myopathy caused by a novel ISCU variant.

Journal: Frontiers in genetics

Published: April 03, 2025

Lipoprotein lipase deficiency: heterozygotes match homozygotes in severity.

Lipoprotein lipase deficiency: heterozygotes match homozygotes in severity.

Journal: Archives of medical science : AMS

Published: August 31, 2024

Whole exome sequencing-based testing of adult epilepsy in a Polish population.

Whole exome sequencing-based testing of adult epilepsy in a Polish population.

Journal: Neurologia i neurochirurgia polska

Published: August 11, 2024

Molecular pattern of a decrease in the rewarding effect of cocaine after an escalating-dose drug regimen.

Molecular pattern of a decrease in the rewarding effect of cocaine after an escalating-dose drug regimen.

Journal: Pharmacological reports : PR

Published: September 30, 2022

Tripeptidyl Peptidase 1 (TPP1) Deficiency in a 36-Year-Old Patient with Cerebellar-Extrapyramidal Syndrome and Dilated Cardiomyopathy.

Tripeptidyl Peptidase 1 (TPP1) Deficiency in a 36-Year-Old Patient with Cerebellar-Extrapyramidal Syndrome and Dilated Cardiomyopathy.

Journal: Life (Basel, Switzerland)

Published: September 18, 2021

Evaluation of the frequency of RETN c.62G>A and RETN c.-180C>G polymorphisms in the resistin coding gene in girls with anorexia nervosa.

Evaluation of the frequency of RETN c.62G>A and RETN c.-180C>G polymorphisms in the resistin coding gene in girls with anorexia nervosa.

Journal: Endokrynologia Polska

Published: March 20, 2021

Evaluation of the frequency of ADIPOQ c.45 T>G and ADIPOQ c.276 G>T polymorphisms in adiponectin coding gene in girls with anorexia nervosa.

Evaluation of the frequency of ADIPOQ c.45 T>G and ADIPOQ c.276 G>T polymorphisms in adiponectin coding gene in girls with anorexia nervosa.

Journal: Endokrynologia Polska

Published: March 20, 2021

Elevated Dipeptidyl Peptidase IV (DPP-IV) Activity in Plasma from Patients with Various Lysosomal Diseases.

Elevated Dipeptidyl Peptidase IV (DPP-IV) Activity in Plasma from Patients with Various Lysosomal Diseases.

Journal: Diagnostics (Basel, Switzerland)

Published: December 28, 2020

Spinal muscular atrophy with an overlapping syndrome - "double trouble" or a potentially better outcome?

Spinal muscular atrophy with an overlapping syndrome - "double trouble" or a potentially better outcome?

Journal: Neurologia i neurochirurgia polska

Published: April 27, 2020

Changes in global gene expression indicate disordered autophagy, apoptosis and inflammatory processes and downregulation of cytoskeletal signalling and neuronal development in patients with Niemann-Pick C disease.

Changes in global gene expression indicate disordered autophagy, apoptosis and inflammatory processes and downregulation of cytoskeletal signalling and neuronal development in patients with Niemann-Pick C disease.

Journal: Neurogenetics

Published: July 13, 2019

Gene expression profile in patients with Gaucher disease indicates activation of inflammatory processes.

Gene expression profile in patients with Gaucher disease indicates activation of inflammatory processes.

Journal: Scientific reports

Published: January 03, 2019

Showing 1-12 of 30

Last Updated: 09/26/2026