Albena Jordanova gewoon hoogleraar

Publicaties Albena Jordanova

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- (2025) p.
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

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

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Genes - ISSN 2073-4425-16:6 (2025) p. 1-13
Auteur(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

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Experimental neurology - ISSN 0014-4886-382 (2024) p. 1-12
Auteur(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

Substrate specificity controlled by the exit site of human P4-ATPases, revealed by de novo point mutations in neurological disorders

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Proceedings of the National Academy of Sciences of the United States of America - ISSN 0027-8424-121:44 (2024) p. 1-11
Auteur(s)

Unravelling the genetic architecture of peripheral neurons : a contribution from diabetic and inherited neuropathies

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Antwerp, University of Antwerp, Faculty of Pharmaceutical, Biomedical and Veterinary Sciences, 2024,250 p.
Auteur(s)