Spectrum of hereditary neuropathies in adult patients from Serbia

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Journal of the peripheral nervous system - ISSN 1085-9489-31:3 (2026) p.
Auteur(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

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Nature communications - ISSN 2041-1723-17:1 (2026) p.
Auteur(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

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Annals of neurology - ISSN 0364-5134- (2026) p.
Auteur(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

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

Loss-of-function variants in CPT1C : no support for a causal role in hereditary spastic paraplegia

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Movement disorders: video, videotape supplements - ISSN 0885-3185-41:3 (2026) p. 779-784
Auteur(s)
    Rui Zhu, Lang Liu, Mehrdad A. Estiar, Farnaz Asayesh, Jamil Ahmad, Meron Teferra, Grace Yoon, Mark Tarnopolsky, Kym M. Boycott, Nicolas Dupre, Patrick A. Dion, Oksana Suchowersky, Albena Jordanova, Yi-Chung Lee, Giovanni Stevanin, Stephan Zuchner, Guy A. Rouleau, Ziv Gan-Or