Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Anita Korpioja"'
Autor:
Josephina A. N. Meester, Anne Hebert, Maaike Bastiaansen, Laura Rabaut, Jarl Bastianen, Nele Boeckx, Kathryn Ashcroft, Paldeep S. Atwal, Antoine Benichou, Clarisse Billon, Jan D. Blankensteijn, Paul Brennan, Stephanie A. Bucks, Ian M. Campbell, Solène Conrad, Stephanie L. Curtis, Majed Dasouki, Carolyn L. Dent, James Eden, Himanshu Goel, Verity Hartill, Arjan C. Houweling, Bertrand Isidor, Nicola Jackson, Pieter Koopman, Anita Korpioja, Minna Kraatari-Tiri, Liina Kuulavainen, Kelvin Lee, Karen J. Low, Alan C. Lu, Morgan L. McManus, Stephen P. Oakley, James Oliver, Nicole M. Organ, Eline Overwater, Nicole Revencu, Alison H. Trainer, Bhavya Trivedi, Claire L. S. Turner, Rebecca Whittington, Andreas Zankl, Dominica Zentner, Lut Van Laer, Aline Verstraeten, Bart L. Loeys
Publikováno v:
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-9 (2024)
Abstract Pathogenic loss-of-function variants in BGN, an X-linked gene encoding biglycan, are associated with Meester-Loeys syndrome (MRLS), a thoracic aortic aneurysm/dissection syndrome. Since the initial publication of five probands in 2017, we ha
Externí odkaz:
https://doaj.org/article/59c29ea90e714804ab5f4038f2662271
Autor:
Anita Korpioja, Johanna Krüger, Anri Hurme-Niiranen, Eino Solje, Kasper Katisko, Joonas Lipponen, Maria Lehtilahti, Anne M. Remes, Kari Majamaa, Laura Kytövuori
Introduction: The biallelic repeat expansion (AAGGG)(exp) in RFC1 causes cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS). Recently, cognitive impairment has been reported in patients with CANVAS and a broader neurodegenerati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e673af8fa46c985e84aa0179f58067c0
http://hdl.handle.net/10138/349564
http://hdl.handle.net/10138/349564
Autor:
Susanna Koivuluoma, Seppo Helisalmi, Anita Korpioja, Anne M. Remes, Virpi Moilanen, Johanna Krüger, Katri Pylkäs, Mikko Hiltunen
Publikováno v:
Journal of Alzheimer's Disease. 82:761-770
Background: Rare variants of SORL1 have been associated with an increased risk of early-onset or late-onset Alzheimer’s disease (AD). However, a lot remains to be clarified about their significance in the pathogenesis of the disease. Objective: To