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
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
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
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.
Mind-body control : a new perspective on motor neuron function
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Signal transduction and targeted therapy - ISSN 2095-9907-9:1 (2024) p. 1-3