Perifere Neuropathieën

Publicaties

Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy

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- (2024) p.
Auteur(s)

The future of embryoids from a reproductive science perspective

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Molecular human reproduction - ISSN 1460-2407-30:2 (2024) p. 1-10
Auteur(s)
    Michele Boiani, Bieke Bekaert, Michele Boiani, Julian Christians, Lynsey Cree, Alexandra Harvey, Francesca Gioia Klinger, Valentina Lodde, Bernard Roelen, Jan-Bernd Stukenborg, Joachim Wistuba

Various repair events following CRISPR/Cas9-based mutational correction of an infertility-related mutation in mouse embryos

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Journal of assisted reproduction and genetics - ISSN 1058-0468-41:6 (2024) p. 1637-1642
Auteur(s)
    Bieke Bekaert, A. Boel, A. Rybouchkin, G. Cosemans, S. Declercq, S.M. Chuva de Sousa Lopes, J. Parrington, D. Stoop, P. Coucke, B. Menten, B. Heindryckx, A. Boel, G. Cosemans, Björn Menten, B. Heindryckx

Force-induced dephosphorylation activates the cochaperone BAG3 to coordinate protein homeostasis and membrane traffic

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Current biology - ISSN 0960-9822-34 (2024) p. 4170-4183.e9
Auteur(s)
    Judith Ottensmeyer, Alessandra Esch, Henrique Baeta, Sandro Sieger, Yamini Gupta, Maximilian F. Rathmann, Andreas Jeschke, Daniel Jacko, Kirill Schaaf, Thorsten Schiffer, Bahareh Rahimi, Lukas Lövenich, Angela Sisto, Peter F.M. van der Ven, Dieter O. Fürst, Albert Haas, Wilhelm Bloch, Sebastian Gehlert, Bernd Hoffmann, Vincent Timmerman, Pitter F. Huesgen, Jörg Höhfeld

Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders

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Genetics in medicine - ISSN 1098-3600-26:6 (2024) p. 1-14
Auteur(s)