Ivailo Tournev
Ivailo Tournev
Началник на Клиника по нервни болести, УМБАЛ Александровска, професор по неврология, MУ-София, НБУ
Verified email at emhpf.org
TitleCited byYear
The effective mutation rate at Y chromosome short tandem repeats, with application to human population-divergence time
LA Zhivotovsky, PA Underhill, C Cinnioğlu, M Kayser, B Morar, T Kivisild, ...
The American Journal of Human Genetics 74 (1), 50-61, 2004
4452004
Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy
J Irobi, K Van Impe, P Seeman, A Jordanova, I Dierick, N Verpoorten, ...
Nature genetics 36 (6), 597, 2004
4192004
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, 2006
3432006
Patisiran, an RNAi therapeutic, for hereditary transthyretin amyloidosis
D Adams, A Gonzalez-Duarte, WD O’Riordan, CC Yang, M Ueda, ...
New England Journal of Medicine 379 (1), 11-21, 2018
3352018
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
3332006
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
3212006
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
2732003
Origins and divergence of the Roma (gypsies)
D Gresham, B Morar, PA Underhill, G Passarino, AA Lin, C Wise, ...
The American Journal of Human Genetics 69 (6), 1314-1331, 2001
2382001
Null mutations in LTBP2 cause primary congenital glaucoma
M Ali, M McKibbin, A Booth, DA Parry, P Jain, SA Riazuddin, ...
The American Journal of Human Genetics 84 (5), 664-671, 2009
2222009
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
1962013
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, 2003
1682003
Mutation history of the roma/gypsies
B Morar, D Gresham, D Angelicheva, I Tournev, R Gooding, ...
The American Journal of Human Genetics 75 (4), 596-609, 2004
1552004
Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3
J Senderek, SM Garvey, M Krieger, V Guergueltcheva, A Urtizberea, ...
The American Journal of Human Genetics 84 (4), 511-518, 2009
1142009
A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23
T Rogers, D Chandler, D Angelicheva, PK Thomas, B Youl, I Tournev, ...
The American Journal of Human Genetics 67 (3), 664-671, 2000
942000
Patterns of inter-and intra-group genetic diversity in the Vlax Roma as revealed by Y chromosome and mitochondrial DNA lineages
L Kalaydjieva, F Calafell, MA Jobling, D Angelicheva, P de Knijff, ...
European Journal of Human Genetics 9 (2), 97, 2001
922001
First European consensus for diagnosis, management, and treatment of transthyretin familial amyloid polyneuropathy
D Adams, OB Suhr, E Hund, L Obici, I Tournev, JM Campistol, MS Slama, ...
Current opinion in neurology 29 (Suppl 1), S14, 2016
902016
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia
M Zimoń, J Baets, L Almeida-Souza, E De Vriendt, J Nikodinovic, ...
Nature genetics 44 (10), 1080, 2012
872012
Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance
K Peeters, I Litvinenko, B Asselbergh, L Almeida-Souza, T Chamova, ...
The American Journal of Human Genetics 92 (6), 955-964, 2013
772013
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
751999
Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1
V Guergueltcheva, DN Azmanov, D Angelicheva, KR Smith, T Chamova, ...
The American Journal of Human Genetics 91 (3), 553-564, 2012
722012
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