Szymon Ziętkiewicz

University of Gdańsk

Poland

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Articles (8)

Year:

2025

Year:

2024

Year:

2022

Year:

2021

Year:

2021

Year:

2020

Year:

2020

Year:

2020

Collaborators (10)

Malgorzata Stanczyk

Polish Mother’s Memorial Hospital Research Institute

POLAND

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Michal Szymanski

Head of the Structural Biology Laboratory/Associate Professor

University of Gdańsk

POLAND

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Maria Mazurkiewicz-Bełdzińska

Medical University of Gdansk

POLAND

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Sergio Guerrero-Castillo

University Medical Center Hamburg-Eppendorf

GERMANY

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Elisa Benetti

ITALY

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Katarzyna Tonska

University of Warsaw

POLAND

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Ron Wevers

Professor emeritus

Radboud University Medical Center

NETHERLANDS

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Rafal Dutkiewicz

University of Gdańsk

POLAND

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Beata S. Lipska-Ziętkiewicz

Associate Professor

Medical University of Gdansk

POLAND

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Ploski R

POLAND

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Szymon Ziętkiewicz

Research Interests

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Articles (8)

CLPB Deficiency, a Mitochondrial Chaperonopathy With Neutropenia and Neurological Presentation

The epilepsy phenotype of KCNK4-related neurodevelopmental disease

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

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

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

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

Answer to Finsterer about “Multisystem presentation of a homozygous POLG2 variant”

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

Collaborators (10)

Malgorzata Stanczyk

Michal Szymanski

Maria Mazurkiewicz-Bełdzińska

Sergio Guerrero-Castillo

Elisa Benetti

Katarzyna Tonska

Ron Wevers

Rafal Dutkiewicz

Beata S. Lipska-Ziętkiewicz

Ploski R

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