Ewelina Elert‐Dobkowska
Institute of Psychiatry and Neurology(PL)
Publications by Year
Research Areas
Genetic Neurodegenerative Diseases, Hereditary Neurological Disorders, Neurological diseases and metabolism, Genomics and Rare Diseases, Neurogenetic and Muscular Disorders Research
Most-Cited Works
- → Germline SMARCE1 mutations predispose to both spinal and cranial clear cell meningiomas(2014)132 cited
- → Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes(2019)51 cited
- → Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients(2015)33 cited
- → Screening for the hereditary spastic paraplaegias SPG4 and SPG3A with the multiplex ligation-dependent probe amplification technique in a large population of affected individuals(2011)29 cited
- → High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles(2016)16 cited
- → Standards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global Initiative(2023)12 cited
- → Application of a custom NGS gene panel revealed a high diagnostic utility for molecular testing of hereditary ataxias(2022)9 cited
- → The needle EMG findings in myotonia congenita(2019)7 cited
- → Next generation sequencing panel as an effective approach to genetic testing in patients with a highly variable phenotype of neuromuscular disorders(2024)4 cited