Albena Jordanova
Albena Jordanova
VIB, University of Antwerp, Belgium; Medical University-Sofia, Bulgaria
Verified email at - Homepage
Cited by
Cited by
Cost of disorders of the brain in Europe 2010
A Gustavsson, M Svensson, F Jacobi, C Allgulander, J Alonso, E Beghi, ...
European neuropsychopharmacology 21 (10), 718-779, 2011
Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V
A Antonellis, RE Ellsworth, N Sambuughin, I Puls, A Abel, SQ Lee-Lin, ...
The American Journal of Human Genetics 72 (5), 1293-1299, 2003
KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy
S Weckhuysen, S Mandelstam, A Suls, D Audenaert, T Deconinck, ...
Annals of neurology 71 (1), 15-25, 2012
Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy
J Irobi, KV Impe, P Seeman, A Jordanova, I Dierick, N Verpoorten, ...
Nature genetics 36 (6), 597-601, 2004
MFN2 mutation distribution and genotype/phenotype correlation in Charcot–Marie–Tooth type 2
K Verhoeven, KG Claeys, S Züchner, JM Schröder, J Weis, C Ceuterick, ...
Brain 129 (8), 2093-2102, 2006
Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy
A Jordanova, J Irobi, FP Thomas, P Van Dijck, K Meerschaert, M Dewil, ...
Nature genetics 38 (2), 197-202, 2006
Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2
S Züchner, P De Jonghe, A Jordanova, KG Claeys, V Guergueltcheva, ...
Annals of Neurology: Official Journal of the American Neurological …, 2006
Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot–Marie–Tooth disease
A Jordanova, P De Jonghe, CF Boerkoel, H Takashima, E De Vriendt, ...
Brain 126 (3), 590-597, 2003
A Pan‐European Study of the C9orf72 Repeat Associated with FTLD: Geographic Prevalence, Genomic Instability, and Intermediate Repeats
J van der Zee, I Gijselinck, L Dillen, T Van Langenhove, J Theuns, ...
Human mutation 34 (2), 363-373, 2013
Early‐onset absence epilepsy caused by mutations in the glucose transporter GLUT1
A Suls, SA Mullen, YG Weber, K Verhaert, B Ceulemans, R Guerrini, ...
Annals of Neurology: Official Journal of the American Neurological …, 2009
High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH
CEG Bruder, C Hirvelä, I Tapia-Paez, I Fransson, R Segraves, ...
Human molecular genetics 10 (3), 271-282, 2001
Genes for hereditary sensory and autonomic neuropathies: a genotype–phenotype correlation
A Rotthier, J Baets, ED Vriendt, A Jacobs, M Auer-Grumbach, N Levy, ...
Brain 132 (10), 2699-2711, 2009
Mutations in the GABA transporter SLC6A1 cause epilepsy with myoclonic-atonic seizures
GL Carvill, JM McMahon, A Schneider, M Zemel, CT Myers, J Saykally, ...
The American Journal of Human Genetics 96 (5), 808-815, 2015
Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy
Y Liao, L Deprez, S Maljevic, J Pitsch, L Claes, D Hristova, A Jordanova, ...
Brain 133 (5), 1403-1414, 2010
Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations
L Deprez, S Weckhuysen, P Holmgren, A Suls, T Van Dyck, D Goossens, ...
Neurology 75 (13), 1159-1165, 2010
Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I
A Rotthier, M Auer-Grumbach, K Janssens, J Baets, A Penno, ...
The American Journal of Human Genetics 87 (4), 513-522, 2010
Reconstructing the population history of European Romani from genome-wide data
I Mendizabal, O Lao, UM Marigorta, A Wollstein, L Gusmão, V Ferak, ...
Current Biology 22 (24), 2342-2349, 2012
Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe
T Dörk, M Macek Jr, F Mekus, B Tümmler, J Tzountzouris, T Casals, ...
Human genetics 106, 259-268, 2000
Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78)
A Estrada-Cuzcano, S Martin, T Chamova, M Synofzik, D Timmann, ...
Brain 140 (2), 287-305, 2017
CMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase
W He, G Bai, H Zhou, N Wei, NM White, J Lauer, H Liu, Y Shi, CD Dumitru, ...
Nature 526 (7575), 710-714, 2015
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