Variant ataxia-telangiectasia presenting as tremor-dystonia syndrome in a Bulgarian religious minority
Bron
Genes - ISSN 2073-4425-16:6 (2025) p. 1-13
Substrate specificity controlled by the exit site of human P4-ATPases, revealed by de novo point mutations in neurological disorders
Bron
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
Bron
Antwerp, University of Antwerp, Faculty of Pharmaceutical, Biomedical and Veterinary Sciences, 2024,250 p.
Mind-body control : a new perspective on motor neuron function
Bron
Signal transduction and targeted therapy - ISSN 2095-9907-9:1 (2024) p. 1-3
Identification and characterization of novel founder mutations in NDRG1 : refining the genetic landscape of Charcot–Marie–Tooth Disease Type 4D in Bulgaria
Bron
International journal of molecular sciences - ISSN 1422-0067-25:16 (2024) p. 1-13