Follow
Ivailo Tournev
Ivailo Tournev
Началник на Клиника по нервни болести, УМБАЛ Александровска, професор по неврология, MУ-София, НБУ
Verified email at emhpf.org
Title
Cited by
Cited by
Year
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
23692018
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
5342004
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
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
4302006
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
4252006
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
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
3362009
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
3152013
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
3122001
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, S14-S26, 2016
2552016
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
2062009
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
1952004
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
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
1662017
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), 1080-1083, 2012
1482012
Efficacy and safety of vutrisiran for patients with hereditary transthyretin-mediated amyloidosis with polyneuropathy: a randomized clinical trial
D Adams, IL Tournev, MS Taylor, T Coelho, V Planté-Bordeneuve, ...
Amyloid 30 (1), 18-26, 2023
1342023
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
1302013
Early diagnosis of ATTR amyloidosis through targeted follow-up of identified carriers of TTR gene mutations
I Conceição, T Damy, M Romero, L Galán, S Attarian, M Luigetti, M Sadeh, ...
Amyloid 26 (1), 3-9, 2019
1272019
Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration
J Van Der Zee, T Van Langenhove, GG Kovacs, L Dillen, W Deschamps, ...
Acta neuropathologica 128, 397-410, 2014
1182014
The system can't perform the operation now. Try again later.
Articles 1–20