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

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
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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.
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Identification and characterization of novel founder mutations in NDRG1 : refining the genetic landscape of Charcot–Marie–Tooth Disease Type 4D in Bulgaria

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International journal of molecular sciences - ISSN 1422-0067-25:16 (2024) p. 1-13
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