List of works - Albena Jordanova

A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats

scientific article published on 4 January 2013

Axonal neuropathy with neuromyotonia: there is a HINT.

scientific article

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

scientific article

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

scientific article

Dominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35

scientific article

Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies

scientific article

Dominant mutations in the tyrosyl-tRNA synthetase gene recapitulate in Drosophila features of human Charcot-Marie-Tooth neuropathy

scientific article

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

scientific article

Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.

scientific article

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

scientific article

Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance

scientific article

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

scientific article

NEFL N98S mutation: another cause of dominant intermediate Charcot-Marie-Tooth disease with heterogeneous early-onset phenotype

scientific article

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

scientific article

Reconstructing the population history of European Romani from genome-wide data

scientific article

SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve

scientific article

TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

scientific article published on 23 December 2016

Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach

scientific article published on 18 September 2014

List of works by Albena Jordanova

A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats

Axonal neuropathy with neuromyotonia: there is a HINT.

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

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

Dominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35

Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies

Dominant mutations in the tyrosyl-tRNA synthetase gene recapitulate in Drosophila features of human Charcot-Marie-Tooth neuropathy

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

Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.

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

Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance

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

NEFL N98S mutation: another cause of dominant intermediate Charcot-Marie-Tooth disease with heterogeneous early-onset phenotype

Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

Reconstructing the population history of European Romani from genome-wide data

SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve

TBK1 Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach