Albena Jordanova full professor

Publications 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)

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

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- (2025) p.
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

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

The GENESIS database and tools : a decade of discovery in Mendelian genomics

Source
Experimental neurology - ISSN 0014-4886-382 (2024) p. 1-12
Author(s)
    Matt C. Danzi, Eric Powell, Adriana P. Rebelo, Maike F. Dohrn, Danique Beijer, Sarah Fazal, Isaac R.L. Xu, Jessica Medina, Sitong Chen, Yeisha Arcia de Jesus, Jacquelyn Schatzman, Ray E. Hershberger, Mario Saporta, Jonathan Baets, Marni Falk, David N. Herrmann, Steven S. Scherer, Mary M. Reilly, Andrea Cortese, Wilson Marques, Mario R. Carnejo-Olivas, Oranee Sanmaneechai, Marina L. Kennerson, Albena Jordanova, Thiago Y.T. Silva, Jose Luiz Pedroso, Luca Schierbaum, Darius Ebrahimi-Fakhari, Stojan Peric, Yi-Chung Lee, Matthis Synofzik, Mustafa Tekin, Gianina Ravenscroft, Mike Shy, Nazli Basak, Rebecca Schule, Stephan Zuchner