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  1. Article

    Open Access

    A new family with spastic paraplegia type 51 and novel mutations in AP4E1

    Autosomal recessive mutations in the AP-4 (adaptor protein complex 4) complex subunit ϵ − 1 (AP-4E1) gene on chromosome 15q21.2 are known to cause spastic paraplegia 51 (SPG51). The exact phenotype of SPG51 re...

    Izabela Winkler, Paweł Miotła, Monika Lejman, Aleksandra Pietrzyk in BMC Medical Genomics (2021)

  2. Article

    Open Access

    Long-Term Follow-Up of Sexual Dysfunction in Women Following Allogeneic Hematopoietic Stem Cell Transplantation

    Chronic graft-versus-host disease is the most common late complication following allogeneic hematopoietic stem cell transplantation. The aim of this study was to present the outcomes of two successful vaginal ...

    Katarzyna Skorupska, Tomasz Rechberger, Andrzej Wrobel in Archives of Sexual Behavior (2019)

  3. Article

    Open Access

    Regulatory T lymphocytes and transforming growth factor beta in epithelial ovarian tumors-prognostic significance

    Regulatory T lymphocytes (Treg) are characterized by the presence of CD4+ surface antigen. Today the transcription factor FOXP3 is considered to be the most specific marker of Treg cells. The aim of the study ...

    Izabela Winkler, Barbara Wilczynska in Journal of Ovarian Research (2015)