Szymon Zietkiewicz

Gdansk, PM, Poland

Last Updated: 09/26/2026

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Found 18 publications

From genotype to outcome: Zygosity-specific insights in 63 cases of CLPB-related mitochondrial disease.

From genotype to outcome: Zygosity-specific insights in 63 cases of CLPB-related mitochondrial disease.

Journal: Molecular genetics and metabolism

Published: November 25, 2025

Beyond SGCE: expanding the clinical and molecular spectrum of KCTD17- and KCNN2-related myoclonus-dystonia.

Beyond SGCE: expanding the clinical and molecular spectrum of KCTD17- and KCNN2-related myoclonus-dystonia.

Journal: Frontiers in neurology

Published: October 19, 2025

CLPB Deficiency, a Mitochondrial Chaperonopathy With Neutropenia and Neurological Presentation.

CLPB Deficiency, a Mitochondrial Chaperonopathy With Neutropenia and Neurological Presentation.

Journal: Journal of inherited metabolic disease

Published: January 03, 2025

The epilepsy phenotype of KCNK4-related neurodevelopmental disease.

The epilepsy phenotype of KCNK4-related neurodevelopmental disease.

Journal: Seizure

Published: June 04, 2024

Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy.

Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy.

Journal: Kidney international

Published: September 09, 2021

Correction to: Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency.

Correction to: Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency.

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

Published: July 24, 2021

Case Report: Lennox-Gastaut Epileptic Encephalopathy Responsive to Cannabidiol Treatment Associated With a Novel de novo Mosaic SHANK1 Variant.

Case Report: Lennox-Gastaut Epileptic Encephalopathy Responsive to Cannabidiol Treatment Associated With a Novel de novo Mosaic SHANK1 Variant.

Journal: Frontiers in genetics

Published: July 02, 2021

Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency.

Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency.

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

Published: September 21, 2020

Answer to Finsterer about "Multisystem presentation of a homozygous POLG2 variant".

Answer to Finsterer about "Multisystem presentation of a homozygous POLG2 variant".

Journal: European journal of medical genetics

Published: February 21, 2020

CLPB (caseinolytic peptidase B homolog), the first mitochondrial protein refoldase associated with human disease.

CLPB (caseinolytic peptidase B homolog), the first mitochondrial protein refoldase associated with human disease.

Journal: Biochimica et biophysica acta. General subjects

Published: December 19, 2019

Syndromic chorioretinal coloboma associated with heterozygous de novo RARA mutation affecting an amino acid critical for retinoic acid interaction.

Syndromic chorioretinal coloboma associated with heterozygous de novo RARA mutation affecting an amino acid critical for retinoic acid interaction.

Journal: Clinical genetics

Published: May 02, 2019

Whole exome sequencing identifies a homozygous POLG2 missense variant in an adult patient presenting with optic atrophy, movement disorders, premature ovarian failure and mitochondrial DNA depletion.

Whole exome sequencing identifies a homozygous POLG2 missense variant in an adult patient presenting with optic atrophy, movement disorders, premature ovarian failure and mitochondrial DNA depletion.

Journal: European journal of medical genetics

Published: April 04, 2019

Showing 1-12 of 18

Last Updated: 09/26/2026