Ewelina Elert‐Dobkowska

Germline <i><scp>SMARCE1</scp></i> mutations predispose to both spinal and cranial clear cell meningiomas

Miriam J. Smith, Andrew J. Wallace, Chris Bennett et al. · The Journal of Pathology · 2014 · 132 citations

Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes

Ewelina Elert‐Dobkowska, Iwona Stępniak, Wioletta Krysa et al. · Neurogenetics · 2019 · 50 citations · Full text

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

Ewelina Elert‐Dobkowska, Iwona Stępniak, Wioletta Krysa et al. · Journal of the Neurological Sciences · 2015 · 32 citations

Rare Diseases, Reep1 Gene Mutations, Polish Patients +10

Screening for the hereditary spastic paraplaegias SPG4 and SPG3A with the multiplex ligation-dependent probe amplification technique in a large population of affected individuals

Ewelina Elert‐Dobkowska, Marta Rajkiewicz, Elżbieta Zdzienicka et al. · Neurological Sciences · 2011 · 29 citations

Biology, Genetic Disorder, Medicine +6

High Frequency of Pathogenic Rearrangements in <i>SPG11</i> and Extensive Contribution of Mutational Hotspots and Founder Alleles

Sven Günther, Ewelina Elert‐Dobkowska, Anne S. Soehn et al. · Human Mutation · 2016 · 16 citations