Ewelina Dobkowska-Elert

Warsaw, MZ, Poland

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 17 publications

Myotonic dystrophy type 2 is frequently diagnosed in Poland.

Myotonic dystrophy type 2 is frequently diagnosed in Poland.

Journal: Neurologia i neurochirurgia polska

Published: April 08, 2026

Identification of FGF14 GAA Expansions in Polish Patients with Undiagnosed Cerebellar Ataxia - A Preliminary Study.

Identification of FGF14 GAA Expansions in Polish Patients with Undiagnosed Cerebellar Ataxia - A Preliminary Study.

Journal: Cerebellum (London, England)

Published: September 07, 2025

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

Reply to the Letter to the Editor on "The diagnosis of myotonic dystrophy type 2 in a patient with calpainopathy requires the determination of CCTG expansion" [].

Reply to the Letter to the Editor on "The diagnosis of myotonic dystrophy type 2 in a patient with calpainopathy requires the determination of CCTG expansion" [].

Journal: Postepy psychiatrii neurologii

Published: January 30, 2025

Subclinical involvement of central nervous system structures other than motor or sensory tracts in SPG3A and SPG4 patients.

Subclinical involvement of central nervous system structures other than motor or sensory tracts in SPG3A and SPG4 patients.

Journal: BMC neurology

Published: January 10, 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

Differential diagnosis of Huntington's disease- neurological aspects of NKX2-1-related disorders.

Differential diagnosis of Huntington's disease- neurological aspects of NKX2-1-related disorders.

Journal: Journal of neural transmission (Vienna, Austria : 1996)

Published: March 15, 2024

SPAST Intragenic CNVs Lead to Hereditary Spastic Paraplegia via a Haploinsufficiency Mechanism.

SPAST Intragenic CNVs Lead to Hereditary Spastic Paraplegia via a Haploinsufficiency Mechanism.

Journal: International journal of molecular sciences

Published: February 29, 2024

Co-occurrence of CAPN3 homozygous mutation and CCTG expansion in the CNBP gene in a patient with muscular dystrophy.

Co-occurrence of CAPN3 homozygous mutation and CCTG expansion in the CNBP gene in a patient with muscular dystrophy.

Journal: Postepy psychiatrii neurologii

Published: November 06, 2023

Value of short exercise and short exercise with cooling tests in diagnosis of recessive form of myotonia congenita (Becker disease) - are sex differences important?

Value of short exercise and short exercise with cooling tests in diagnosis of recessive form of myotonia congenita (Becker disease) - are sex differences important?

Journal: Neurologia i neurochirurgia polska

Published: February 02, 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

Showing 1-12 of 17

Last Updated: 09/26/2026