Jacek Zaremba

Warsaw, MZ, Poland

Last Updated: 09/26/2026

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Found 26 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

Frequently observed polyneuropathy expands phenotypic spectrum of apparently pure autosomal dominant hereditary spastic paraplegias.

Frequently observed polyneuropathy expands phenotypic spectrum of apparently pure autosomal dominant hereditary spastic paraplegias.

Journal: Neurologia i neurochirurgia polska

Published: June 25, 2024

Next generation sequencing panel as an effective approach to genetic testing in patients with a highly variable phenotype of neuromuscular disorders.

Next generation sequencing panel as an effective approach to genetic testing in patients with a highly variable phenotype of neuromuscular disorders.

Journal: Neurogenetics

Published: March 19, 2024

Next-Generation Sequencing of Connective Tissue Genes in Patients with Classical Ehlers-Danlos Syndrome.

Next-Generation Sequencing of Connective Tissue Genes in Patients with Classical Ehlers-Danlos Syndrome.

Journal: Current issues in molecular biology

Published: February 17, 2022

C9orf72 hexanucleotide repeat expansion found in suspected spinobulbar muscular atrophy (SBMA).

C9orf72 hexanucleotide repeat expansion found in suspected spinobulbar muscular atrophy (SBMA).

Journal: Neurologia i neurochirurgia polska

Published: November 30, 2021

Application of a custom NGS gene panel revealed a high diagnostic utility for molecular testing of hereditary ataxias.

Application of a custom NGS gene panel revealed a high diagnostic utility for molecular testing of hereditary ataxias.

Journal: Journal of applied genetics

Published: October 08, 2021

Urine levels of the polyglutamine ataxin-3 protein are elevated in patients with spinocerebellar ataxia type 3.

Urine levels of the polyglutamine ataxin-3 protein are elevated in patients with spinocerebellar ataxia type 3.

Journal: Parkinsonism & related disorders

Published: December 11, 2020

Bilateral Pallidal Stimulation in a Family With Myoclonus Dystonia Syndrome Due to a Mutation in the Sarcoglycan Gene.

Bilateral Pallidal Stimulation in a Family With Myoclonus Dystonia Syndrome Due to a Mutation in the Sarcoglycan Gene.

Journal: Neuromodulation : journal of the International Neuromodulation Society

Published: October 08, 2020

Small mutations in Duchenne/Becker muscular dystrophy in 164 unrelated Polish patients.

Small mutations in Duchenne/Becker muscular dystrophy in 164 unrelated Polish patients.

Journal: Journal of applied genetics

Published: July 25, 2020

Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes.

Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes.

Journal: Neurogenetics

Published: October 25, 2018

WITHDRAWN: Evidence for a relatively high proportion of DM2 mutations in a large group of Polish patients.

WITHDRAWN: Evidence for a relatively high proportion of DM2 mutations in a large group of Polish patients.

Journal: Neurologia i neurochirurgia polska

Published: March 27, 2018

Evidence for a relatively high proportion of DM2 mutations in a large group of Polish patients.

Evidence for a relatively high proportion of DM2 mutations in a large group of Polish patients.

Journal: Neurologia i neurochirurgia polska

Published: October 03, 2017

Showing 1-12 of 26

Last Updated: 09/26/2026