Albena Jordanova full professor

Publications Albena Jordanova

Monoallelic POLR3A variants cause early-onset peripheral neuropathy

Source
Annals of neurology - ISSN 0364-5134- (2026) p.
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, AyÅŸe 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)

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

Source
Movement disorders: video, videotape supplements - ISSN 0885-3185-41:3 (2026) p. 779-784
Author(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

Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy

Source
The journal of clinical investigation - ISSN 0021-9738-135:23 (2025) p. 1-20
Author(s)
    Natalia Dominik, Stephanie Efthymiou, Christopher J. Record, Xinyu Miao, Renee Q. Lin, Jevin M. Parmar, Annarita Scardamaglia, Reza Maroofian, Simon A. Lowe, Gabriel N. Aughey, Abigail D. Wilson, Riccardo Curro, Ricardo P. Schnekenberg, Shahryar Alavi, Leif Leclaire, Yi He, Kristina Zhelcheska, Yohanns Bellaiche, Isabelle Gaugue, Mariola Skorupinska, Liedewei Van de Vondel, Sahar I. Da'as, Valentina Turchetti, Serdal Gungor, Gavin V. Monahan, Ehsan Ghayoor Karimiani, Yalda Jamshidi, Phillipa J. Lamont, Maria Camila Armirola Ricaurte, Haluk Topaloglu, Albena Jordanova, Mashaya Zaman, Selina H. Banu, Wilson Marques, Pedro J. Tomaselli, Busra Aynekin, Ali Cansu, Huseyin Per, Ayten Gulec, Javeria Raza Alvi, Tipu Sultan, Arif Khan, Giovanni Zifarelli, Shahnaz Ibrahim, Grazia M.S. Mancini, M.M. Motazacker, Esther Brusse, Vincenzo Lupo, Jonathan Baets, Henry Houlden

Variant ataxia-telangiectasia presenting as tremor-dystonia syndrome in a Bulgarian religious minority

Source
Genes - ISSN 2073-4425-16:6 (2025) p. 1-13
Author(s)
    Teodora Chamova, Tihomir Todorov, Paulius Palaima, Petya Yankova, Iliyana Pacheva, Ivan Ivanov, Bilyana Georgieva, Sylvia Cherninkova, Alexey Savov, Dora Zlatareva, Elisaveta Naumova, Albena Todorova, Albena Jordanova, Ivailo Tournev