Concepedia

Katarzyna Iwanicka‐Pronicka

KI

13

Publications

371

Citations

11

H-Index

2002

Active since

Affiliations

Children's Memorial Health Institute(Current)

Helmholtz Zentrum München

Technical University of Munich

Medical University of Warsaw

Paracelsus Medical University

Katarzyna Iwanicka‐Pronicka is an author at Children's Memorial Health Institute specializing in medicine, molecular genetics, and genetics.

ORCID

Top concepts

Publications per year

2002–2023

13

Publications

13

Progressive deafness–dystonia due to <i>SERAC1</i> mutations: A study of 67 cases

Roeltje R. Maas, Katarzyna Iwanicka‐Pronicka, Sema Kalkan Uçar et al. · Annals of Neurology · 2017 · 72 citations · Full text

NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy

Dorota Piekutowska‐Abramczuk, Zahra Assouline, Lavinija Mataković et al. · The American Journal of Human Genetics · 2018 · 58 citations · Full text

, , +7

<i>DNAJC30</i> defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome

Sarah L. Stenton, Markéta Tesařová, Claudia B. Catarino et al. · Brain · 2022 · 40 citations · Full text

, , +15

A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients

Ewa Pronicka, Mariola Ropacka‐Lesiak, Joanna Trubicka et al. · Journal of Inherited Metabolic Disease · 2017 · 35 citations · Full text

Diversity of clinical symptoms in A3243G mitochondrial DNA mutation (MELAS syndrome mutation).

Maciej Pronicki, Jolanta Sykut‐Cegielska, Hanna Mierzewska et al. · PubMed · 2002 · 26 citations

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