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Ivo Kremensky
Ivo Kremensky
Molecular Medicine Center
Dirección de correo verificada de mmcbg.org
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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
6992003
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
5002004
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
4342006
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project
D McHugh, CA Cameron, JE Abdenur, M Abdulrahman, O Adair, ...
Genetics in Medicine 13 (3), 230-254, 2011
3802011
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
3612003
Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome
R Varon, R Gooding, C Steglich, L Marns, H Tang, D Angelicheva, ...
Nature genetics 35 (2), 185-189, 2003
1912003
Association of the OPRM1 Variant rs1799971 (A118G) with Non-Specific Liability to Substance Dependence in a Collaborative de novo Meta-Analysis of …
TH Schwantes-An, J Zhang, LS Chen, SM Hartz, RC Culverhouse, ...
Behavior genetics 46, 151-169, 2016
1252016
SSCP analysis: a blind sensitivity trial
A Jordanova, L Kalaydjieva, A Savov, M Claustres, M Schwarz, X Estivill, ...
Human mutation 10 (1), 65-70, 1997
1001997
A Survey of the Newborn Populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey, and Japan for the G985 Variant Allele with Haplotype Analysis …
K Tanaka, N Gregersen, A Ribes, J Kim, S Kølvraa, V Winter, H Eiberg, ...
Pediatric research 41 (2), 201-209, 1997
941997
A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies)
L Kalaydjieva, A Perez-Lezaun, D Angelicheva, S Onengut, D Dye, ...
The American Journal of Human Genetics 65 (5), 1299-1307, 1999
931999
Optimization of single-strand conformation polymorphism analysis in the presence of polyethylene glycol
A Markoff, A Savov, V Vladimirov, N Bogdanova, I Kremensky, V Ganev
Clinical Chemistry 43 (1), 30-33, 1997
901997
Dominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35
A Jordanova, FP Thomas, V Guergueltcheva, I Tournev, FAA Gondim, ...
The American Journal of Human Genetics 73 (6), 1423-1430, 2003
812003
SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve
CL Bennett, AJ Shirk, HM Huynh, VA Street, E Nelis, L Van Maldergem, ...
Annals of Neurology: Official Journal of the American Neurological …, 2004
802004
Genomewide scan and fine-mapping linkage studies in four European samples with bipolar affective disorder suggest a new susceptibility locus on chromosome 1p35-p36 and provides …
J Schumacher, R Kaneva, R Abou Jamra, GO Diaz, S Ohlraun, ...
The American Journal of Human Genetics 77 (6), 1102-1111, 2005
712005
Mutation screening of the N‐myc downstream‐regulated gene 1 (NDRG1) in patients with Charcot‐Marie‐Tooth Disease
M Hunter, R Bernard, E Freitas, A Boyer, B Morar, IJ Martins, I Tournev, ...
Human mutation 22 (2), 129-135, 2003
662003
Hereditary spastic paraplegia 3A associated with axonal neuropathy
N Ivanova, KG Claeys, T Deconinck, I Litvinenko, A Jordanova, ...
Archives of neurology 64 (5), 706-713, 2007
592007
Four generations of epilepsy caused by an inherited microdeletion of the SCN1A gene
A Suls, R Velizarova, I Yordanova, L Deprez, T Van Dyck, J Wauters, ...
Neurology 75 (1), 72-76, 2010
582010
The first genomewide interaction and locus-heterogeneity linkage scan in bipolar affective disorder: strong evidence of epistatic effects between loci on chromosomes 2q and 6q
R Abou Jamra, R Fuerst, R Kaneva, GO Diaz, F Rivas, F Mayoral, E Gay, ...
The American Journal of Human Genetics 81 (5), 974-986, 2007
572007
Founder mutation causing infantile GM1-gangliosidosis in the Gypsy population
I Sinigerska, D Chandler, V Vaghjiani, I Hassanova, R Gooding, ...
Molecular genetics and metabolism 88 (1), 93-95, 2006
532006
NDRG1 interacts with APO A-I and A-II and is a functional candidate for the HDL-C QTL on 8q24
M Hunter, D Angelicheva, I Tournev, E Ingley, DC Chan, GF Watts, ...
Biochemical and biophysical research communications 332 (4), 982-992, 2005
512005
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