Myelin protein zero mutation-related hereditary neuropathies : neuropathological insight from a new nerve biopsy cohort

Source
Brain pathology - ISSN 1015-6305-34:1 (2024) p. 1-20
Author(s)
    Juliane Bremer, Axel Meinhardt, Istvan Katona, Jan Senderek, Elke K. Kaemmerer-Gassler, Andreas Roos, Andreas Ferbert, J. Michael Schroeder, Stefan Nikolin, Kay Nolte, Bernd Sellhaus, Klimentina Popzhelyazkova, Frank Tacke, Ulrike Schara-Schmidt, Eva Neuen-Jacob, Chantal Ceuterick-de Groote, Peter De Jonghe, Vincent Timmerman, Jonathan Baets, Joachim Weis

Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies

Source
Brain - ISSN 0006-8950-146:12 (2023) p. 4880-4890
Author(s)
    Annette Lischka, Katja Eggermann, Christopher J. Record, Maike F. Dohrn, Petra Laššuthová, Florian Kraft, Matthias Begemann, Daniela Dey, Thomas Eggermann, Danique Beijer, Jana Šoukalová, Matilde Laura, Alexander M. Rossor, Radim Mazanec, Jonas Van Lent, Pedro J. Tomaselli, Martin Ungelenk, Karlien Y. Debus, Shawna M.E. Feely, Dieter Gläser, Sujatha Jagadeesh, Madelena Martin, Geeta M. Govindaraj, Pratibha Singhi, Revanth Baineni, Niranjan Biswal, Marisol Ibarra-Ramírez, Maryse Bonduelle, Burkhard Gess, Juan Romero Sánchez, Renu Suthar, Vrajesh Udani, Atchayaram Nalini, Gopikrishnan Unnikrishnan, Wilson Marques Junior, Sandra Mercier, Vincent Procaccio, Céline Bris, Beena Suresh, Vaishnavi Reddy, Mariola Skorupinska, Nathalie Bonello-Palot, Fanny Mochel, Georg Dahl, Karthika Sasidharan, Fiji M. Devassikutty, Vincent Timmerman, Jonathan De Winter, Jonathan Baets, Ingo Kurth

Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14

Source
Human genetics and genomics advances - ISSN 2666-2477-4:2 (2023) p. 1-19
Author(s)
    Adam Jackson, Sheng-Jia Lin, Elizabeth A. Jones, Kate E. Chandler, David Orr, Celia Moss, Zahra Haider, Gavin Ryan, Simon Holden, Mike Harrison, Nigel Burrows, Wendy D. Jones, Mary Loveless, Cassidy Petree, Helen Stewart, Karen Low, Deirdre Donnelly, Simon Lovell, Konstantina Drosou, Gaurav K. Varshney, Siddharth Banka, J.C. Ambrose, P. Arumugam, R. Bevers, M. Bleda, F. Boardman-Pretty, C.R. Boustred, H. Brittain, M.A. Brown, M.J. Caulfield, G.C. Chan, A. Giess, J.N. Griffin, A. Hamblin, S. Henderson, T.J.P. Hubbard, R. Jackson, L.J. Jones, D. Kasperaviciute, M. Kayikci, A. Kousathanas, L. Lahnstein, A. Lakey, S.E.A. Leigh, Vincent Timmerman, Jonathan Baets, Liedewei Van de Vondel, Danique Beijer, Peter De Jonghe, Andreas Rump

The beauty and complexity of the small heat shock proteins : a report on the proceedings of the fourth workshop on small heat shock proteins

Source
Cell stress and chaperones - ISSN 1355-8145-28 (2023) p. 621-629
Author(s)
    Heath Ecroyd, Britta Bartelt-Kirbach, Anat Ben-Zvi, Raffaella Bonavita, Yevheniia Bushman, Elena Casarotto, Ciro Cecconi, Wilson Chun Yu Lau, Jonathan D. Hibshman, Joep Joosten, Virginia Kimonis, Rachel Klevit, Krzysztof Liberek, Kathryn A. McMenimen, Tsukumi Miwa, Axel Mogk, Daniele Montepietra, Carsten Peters, Maria Teresa Rocchetti, Dominik Saman, Angela Sisto, Valentina Secco, Annika Strauch, Hideki Taguchi, Morgan Tanguay, Barbara Tedesco, Melinda E. Toth, Zihao Wang, Justin L.P. Benesch, Serena Carra

Unravelling disease signatures in Charcot-Marie-Tooth disease using induced pluripotent stem cells

Source
Antwerpen, Universiteit Antwerpen, Faculteit Farmaceutische, Biomedische en Diergeneeskundige Wetenschappen, Departement Farmaceutische Wetenschappen, 2023,185 p.
Author(s)