Albena Jordanova
Affiliations: | Universiteit Antwerpen (Belgium) |
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Sign in to add trainee| Ricardo Leitão-Gonçalves | grad student | 2005-2010 | Universiteit Antwerpen (Belgium) |
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| Calianese DC, Noji T, Sullivan JA, et al. (2024) Substrate specificity controlled by the exit site of human P4-ATPases, revealed by de novo point mutations in neurological disorders. Proceedings of the National Academy of Sciences of the United States of America. 121: e2415755121 |
| Atkinson D, Chamova T, Candayan A, et al. (2024) Identification and Characterization of Novel Founder Mutations in : Refining the Genetic Landscape of Charcot-Marie-Tooth Disease Type 4D in Bulgaria. International Journal of Molecular Sciences. 25 |
| Chamova T, Ivanova N, Cherninkova S, et al. (2024) Clinical and genetic variability among Bulgarian patients with autosomal recessive spastic ataxia of Charlevoix-Saguenay. Molecular Genetics & Genomic Medicine. 12: e2483 |
| Armirola-Ricaurte C, Morant L, Adant I, et al. (2024) Biallelic variants in cause a mitochondrial disorder primarily manifesting as peripheral neuropathy. Medrxiv : the Preprint Server For Health Sciences |
| Armirola-Ricaurte C, Zonnekein N, Koutsis G, et al. (2024) Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 101117 |
| Ermanoska B, Asselbergh B, Morant L, et al. (2023) Tyrosyl-tRNA synthetase has a noncanonical function in actin bundling. Nature Communications. 14: 999 |
| Malcorps M, Amor-Barris S, Burnyte B, et al. (2022) HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling. Orphanet Journal of Rare Diseases. 17: 374 |
| Perić S, Marković V, Candayan A, et al. (2022) Phenotypic and Genetic Heterogeneity of Adult Patients with Hereditary Spastic Paraplegia from Serbia. Cells. 11 |
| Kurolap A, Kreuder F, Gonzaga-Jauregui C, et al. (2022) Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity. American Journal of Human Genetics |
| de Aguiar Coelho Silva Madeiro B, Peeters K, Santos de Lima EL, et al. (2021) HINT1 founder mutation causing axonal neuropathy with neuromyotonia in South America: A case report. Molecular Genetics & Genomic Medicine. 9: e1783 |