Magdalena Krygier

Mitochondrial DNA levels in Huntington disease leukocytes and dermal fibroblasts

Paulina Jędrak, Magdalena Krygier, Katarzyna Tońska et al. · Metabolic Brain Disease · 2017 · 28 citations · Full text

Dna, Genetics, Human Polymorphism +19

Mutational analysis of BRCA1/2 in a group of 134 consecutive ovarian cancer patients. Novel and recurrent BRCA1/2 alterations detected by next generation sequencing

Magdalena Ratajska, Magdalena Krygier, Maciej Stukan et al. · Journal of Applied Genetics · 2014 · 23 citations · Full text

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) – A Polish family with novel SACS mutations

Magdalena Krygier, Agnieszka Konkel, Michał Schinwelski et al. · Neurologia i Neurochirurgia Polska · 2017 · 18 citations

De novo truncating <i>NOVA2</i> variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes

Marcello Scala, Nathalie Drouot, Suzanna C. MacLennan et al. · Human Mutation · 2022 · 14 citations · Full text

Neurogenomics, Brain Development, Exome Sequencing +22

Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia

Michael Zech, Ivana Dzinovic, Matěj Škorvánek et al. · Brain · 2025 · 13 citations · Full text