Browsing Bergen Open Research Archive by Author "Bauer, Peter"

Now showing items 1-2 of 2

    • Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications 

      Chelban, Viorica; Aksnes, Henriette; Maroofian, Reza; LaMonica, Lauren C.; Seabra, Luis; Siggervåg, Anette; Devic, Perrine; Shamseldin, Hanan E.; Vandrovcova, Jana; Murphy, David; Richard, Anne-Claire; Quenez, Olivier; Bonnevalle, Antoine; Zanetti, M Natalia; Kaiyrzhanov, Rauan; Salpietro, Vincenzo; Efthymiou, Stephanie; Schottlaender, Lucia V.; Morsy, Heba; Scardamaglia, Annarita; Tariq, Ambreen; Pagnamenta, Alistair T.; Pennavaria, Ajia Rae; Krogstad, Liv Svenningsson; Bekkelund, Åse Karine; Caiella, Alessia; Glomnes, Nina; Brønstad, Kirsten Marie; Tury, Sandrine; Moreno De Luca, Andrés; Boland-Auge, Anne; Olaso, Robert; Deleuze, Jean-François; Anheim, Mathieu; Cretin, Benjamin; Vona, Barbara; Alajlan, Fahad; Abdulwahab, Firdous; Battini, Jean-Luc; İpek, Rojan; Bauer, Peter; Zifarelli, Giovanni; Gungor, Serdal; Kurul, Semra Hiz; Lochmuller, Hanns; Da'as, Sahar I.; Fakhro, Khalid A.; Gómez-Pascual, Alicia; Botía, Juan A.; Wood, Nicholas W.; Horvath, Rita; Ernst, Andreas M.; Rothman, James E.; McEntagart, Meriel; Crow, Yanick J.; Alkuraya, Fowzan S.; Nicolas, Gaël; Arnesen, Thomas; Houlden, Henry (Journal article; Peer reviewed, 2024)
      Primary familial brain calcification (PFBC) is characterized by calcium deposition in the brain, causing progressive movement disorders, psychiatric symptoms, and cognitive decline. PFBC is a heterogeneous disorder currently ...

    • HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H-TM protein 

      Kraatari-Tiri, Minna; Soikkonen, Leila; Myllykoski, Matti Aukusti; Jamshidi, Yalda; Karimiani, Ehsan G.; Komulainen-Ebrahim, Jonna; Kallankari, Hanna; Mignot, Cyril; Depienne, Christel; Keren, Boris; Nougues, Marie-Christine; Alsahlawi, Zahra; Romito, Antonio; Martini, Javier; Toosi, Mehran B.; Carroll, Christopher J.; Tripolszki, Kornelia; Bauer, Peter; Uusimaa, Johanna; Bertoli-Avella, Aida M.; Koivunen, Peppi; Rahikkala, Elisa (Journal article; Peer reviewed, 2022)
      HIDEA syndrome is caused by biallelic pathogenic variants in P4HTM. The phenotype is characterized by muscular and central hypotonia, hypoventilation including obstructive and central sleep apneas, intellectual disability, ...