Ewa Pronicka - Publications

Ataxia and oculomotor apraxia caused by a large-scale deletion in the senataxin gene.

Journal: Journal of applied genetics

Published: May 21, 2025

PIGN encephalopathy: Characterizing the epileptology.

Journal: Epilepsia

Published: October 05, 2021

Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance.

Journal: Human mutation

Published: September 30, 2020

Analysis of vitamin D3 metabolites in survivors of infantile idiopathic hypercalcemia caused by CYP24A1 mutation or SLC34A1 mutation.

Journal: The Journal of steroid biochemistry and molecular biology

Published: June 28, 2020

Long-term outcome of the survivors of infantile hypercalcaemia with CYP24A1 and SLC34A1 mutations.

Journal: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association

Published: January 04, 2020

Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis.

Journal: Annals of clinical and translational neurology

Published: November 09, 2018

The frequency of mitochondrial polymerase gamma related disorders in a large Polish population cohort.

Journal: Mitochondrion

Published: July 28, 2018

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Journal: Orphanet journal of rare diseases

Published: November 05, 2017

A de novo loss-of-function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa.

Journal: Clinical genetics

Published: August 02, 2017

Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations.

Journal: Journal of human genetics

Published: July 21, 2017

Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease.

Journal: Human mutation

Published: July 21, 2017

Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.

Journal: Annals of neurology

Published: June 13, 2017