Biallelic PIGB variants cause motor neuropathy with conduction blocks and eripheral nerve hyperexcitability

Source
Annals of neurology - ISSN 0364-5134- () p. 1-13
Author(s)
    Gorka Fernández‐Eulate, Romain Duval, Marina Konyukh, Alessandro Bertini, Ayşe Candayan, Albena Jordanova, Theresa Brunet, Wolfgang Müller‐Felber, Helena F. Pernice, Katrin Hahn, Nadja Ehmke, Juliane Beuschlein, Bertrand Isidor, Benjamin Cogné, Yann Péréon, Annabelle Chaussenot, John Rendu, Aysylu Murtazina, Dmitrii Subbotin, Artem Borovikov, Andrey Marakhonov, Chiara Pisciotta, Paola Saveri, Daniele Cazzato, Lucie Lemeray, Bérengère Koehl, Jean‐Madeleine de Sainte‐Agathe, Stefano Facchini, Ilaria Quartesan, Andrea Cortese, Yesim Parman, Arman Cakar, Davide Pareyson, Slim Azouzi, Tanya Stojkovic

Spectrum of hereditary neuropathies in adult patients from Serbia

Source
Journal of the peripheral nervous system - ISSN 1085-9489-31:3 (2026) p.
Author(s)
    Milica Vukojevic, Ana Marjanovic, Vukan Ivanovic, Jovan Pesovic, Ana Kosac, Ayşe Candayan, Milena Jankovic, Dusanka Savic-Pavicevic, Albena Jordanova, Ivana Basta, Stojan Peric

Non-coding structural variants disrupt FOXG1 transcriptional regulation in early neurodevelopment

Source
Nature communications - ISSN 2041-1723-17:1 (2026) p.
Author(s)
    Lisa Hamerlinck, Eva D'haene, Michael B. Vaughan, Nore Van Loon, Maria del Rocio Perez Baca, Sebastian Leimbacher, Michael Kosicki, Lara Colombo, Lukas Genbrugge, Lies Vantomme, Esperanza Daal, Luiza Lorena Pires Ramos, Daniela Mircheva Avdjieva-Tzavella, Himanshu Goel, Koen Devriendt, Albena Jordanova, Annelies Dheedene, Axel Visel, Bjorn Menten, Bert Callewaert, Sarah Vergult

Monoallelic POLR3A variants cause early-onset peripheral neuropathy

Source
Annals of neurology - ISSN 0364-5134-100:3 (2026) p. 655-671
Author(s)
    Luiza Lorena Pires Ramos, Jevin M. Parmar, Robin Wijngaard, Bianca R. Grosz, Tamas Lazar, Ligia Mateiu, Steve Vucic, Kishore R. Kumar, Dennis Yeow, Laura I. Rudaks, Lonneke de Boer, Annemarie de Vreugd, David A. Koolen, Thatjana Gardeitchik, Anita Cairns, Krishnan Iyengar, Fernando Kok, Fernanda Barbosa Figueiredo, Alzira Alves de Siqueira Carvalho, Luiz S. Mageste Barbosa, Rodrigo Rezende Arantes, Tyler Rehbein, Jordan E. Bontrager, Elizabeth P. Wood, Janet E. Sowden, Gavin Monahan, Meutia Kumaheri, Ivy Cuijt, Melina Ellis, Gonzalo Perez-Siles, Elyshia McNamara, Ronald van Beek, Celine B. Meijers, Ivaylo Tournev, Stephan Zuchner, Shoshana J. Wodak, Clara D.M. van Karnebeek, Nigel Laing, Liana N. Semcesen, David A. Stroud, David N. Herrmann, Velina Guergueltcheva, Marina L. Kennerson, Machteld M. Oud, Gianina Ravenscroft, Ayşe Candayan, Albena Jordanova

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

Source
Brain - ISSN 0006-8950-149:1 (2026) p. 178-193
Author(s)