Albena Jordanova

Universiteit Antwerpen (Belgium) 
"Albena Jordanova"
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Bervoets S, Wei N, Erfurth ML, et al. (2019) Transcriptional dysregulation by a nucleus-localized aminoacyl-tRNA synthetase associated with Charcot-Marie-Tooth neuropathy. Nature Communications. 10: 5045
Palaima P, Chamova T, Jander S, et al. (2019) Peripheral myelin protein 2 - a novel cluster of mutations causing Charcot-Marie-Tooth neuropathy. Orphanet Journal of Rare Diseases. 14: 197
Farazi Fard MA, Rebelo AP, Buglo E, et al. (2019) Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia. American Journal of Human Genetics. 104: 1251
Tey S, Shahrizaila N, Drew AP, et al. (2019) Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family. Neurogenetics
Inzelberg R, Estrada-Cuzcano A, Laitman Y, et al. (2018) Kufor-Rakeb Syndrome/PARK9: One Novel and One Possible Recurring Ashkenazi ATP13A2 Mutation. Journal of Parkinson's Disease
Peycheva V, Kamenarova K, Ivanova N, et al. (2018) Chromosomal microarray analysis of Bulgarian patients with epilepsy and intellectual disability. Gene
Ivanova N, Peycheva V, Kamenarova K, et al. (2017) Three novel SLC2A1 mutations in Bulgarian patients with different forms of genetic generalized epilepsy reflecting the clinical and genetic diversity of GLUT1-deficiency syndrome. Seizure. 54: 41-44
Ylikallio E, Woldegebriel R, Tumiati M, et al. (2017) MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability. Brain : a Journal of Neurology
Estrada-Cuzcano A, Martin S, Chamova T, et al. (2017) Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78). Brain : a Journal of Neurology. 140: 287-305
Atkinson D, Nikodinovic Glumac J, Asselbergh B, et al. (2017) Sphingosine 1-phosphate lyase deficiency causes Charcot-Marie-Tooth neuropathy. Neurology
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