Albena Jordanova

Overview

Best Publications

• Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V

  Anthony Antonellis;Anthony Antonellis;Rachel E. Ellsworth;Nyamkhishig Sambuughin;Imke Puls

  674
  Citations

• Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy.

  Joy Irobi;Katrien Van Impe;Pavel Seeman;Albena Jordanova

  498
  Citations

• MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.

  Kristien Verhoeven;Kristl G. Claeys;Stephan Züchner;Stephan Züchner;J. Michael Schröder

  448
  Citations

• Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy.

  Albena Jordanova;Albena Jordanova;Joy Irobi;Florian P Thomas;Patrick Van Dijck

  431
  Citations

• Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2.

  Stephan Züchner;Peter De Jonghe;Albena Jordanova;Albena Jordanova;Kristl G. Claeys

  415
  Citations

• Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.

  A. Jordanova;P. De Jonghe;C. F. Boerkoel;H. Takashima

  352
  Citations

• A Pan‐European Study of the C9orf72 Repeat Associated with FTLD: Geographic Prevalence, Genomic Instability, and Intermediate Repeats

  Julie van der Zee;Ilse Gijselinck;Lubina Dillen;Tim Van Langenhove

  323
  Citations

• Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.

  Arvid Suls;Saul A. Mullen;Yvonne G. Weber;Kristien Verhaert

  308
  Citations

• Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures

  Gemma L. Carvill;Jacinta M. McMahon;Amy Schneider;Matthew Zemel

  237
  Citations

• Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.

  Annelies Rotthier;Jonathan Baets;Els De Vriendt;An Jacobs

  212
  Citations

• Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I.

  Annelies Rotthier;Michaela Auer-Grumbach;Katrien Janssens;Jonathan Baets

  209
  Citations

• High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH

  Carl E.G. Bruder;Carina Hirvelä;Isabel Tapia-Paez;Ingegerd Fransson

  204
  Citations

• Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy

  Yunxiang Liao;Liesbet Deprez;Snezana Maljevic;Julika Pitsch

  199
  Citations

• Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations

  Liesbet Deprez;Sarah Weckhuysen;Philip Holmgren;Arvid Suls

  197
  Citations

• Reconstructing the Population History of European Romani from Genome-wide Data

  Isabel Mendizabal;Oscar Lao;Urko M. Marigorta;Andreas Wollstein

  175
  Citations

• CMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase

  Weiwei He;Ge Bai;Huihao Zhou;Na Wei

  168
  Citations

• 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;F. Mekus;B. Tümmler

  165
  Citations

• Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78)

  Alejandro Estrada-Cuzcano;Shaun Martin;Teodora Chamova;Matthis Synofzik

  162
  Citations

• Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32

  Michael Steffens;Costin Leu

  161
  Citations

• Genetic spectrum of hereditary neuropathies with onset in the first year of life

  Jonathan Baets;Tine Deconinck;Els De Vriendt;Magdalena Zimoń

  159
  Citations