Jolanta Kubalska

Warsaw, MZ, Poland

Last Updated: 09/26/2026

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Found 15 publications

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

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

Efficacy and Safety of Statin Treatment in Children with Familial Hypercholesterolemia: Outcomes of 20 Years of Experience.

Efficacy and Safety of Statin Treatment in Children with Familial Hypercholesterolemia: Outcomes of 20 Years of Experience.

Journal: Journal of clinical medicine

Published: October 19, 2023

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

Telomere length and mtDNA copy number in human cystathionine β-synthase deficiency.

Telomere length and mtDNA copy number in human cystathionine β-synthase deficiency.

Journal: Free radical biology & medicine

Published: June 18, 2020

Serum Proteome Alterations in Human Cystathionine β-Synthase Deficiency and Ischemic Stroke Subtypes.

Serum Proteome Alterations in Human Cystathionine β-Synthase Deficiency and Ischemic Stroke Subtypes.

Journal: International journal of molecular sciences

Published: May 21, 2019

WITHDRAWN: Evidence for a relatively high proportion of DM2 mutations in a large group of Polish patients.

WITHDRAWN: Evidence for a relatively high proportion of DM2 mutations in a large group of Polish patients.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

A rare subclinical or mild type of Becker muscular dystrophy caused by a single exon 48 deletion of the dystrophin gene.

A rare subclinical or mild type of Becker muscular dystrophy caused by a single exon 48 deletion of the dystrophin gene.

Journal: Journal of applied genetics

Published: May 04, 2016

Simultaneous Determination of Methionine and Homocysteine by on-column derivatization with o-phtaldialdehyde.

Simultaneous Determination of Methionine and Homocysteine by on-column derivatization with o-phtaldialdehyde.

Journal: Talanta

Published: April 11, 2016

Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients.

Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients.

Journal: Journal of the neurological sciences

Published: July 24, 2015

Management in familial hypercholesterolaemia in children and adolescents. Position of the Lipid Expert Forum

Management in familial hypercholesterolaemia in children and adolescents. Position of the Lipid Expert Forum

Journal: Kardiologia polska

Published: August 07, 2013

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Last Updated: 09/26/2026