Efficacy and safety of vutrisiran for patients with hereditary transthyretin-mediated amyloidosis with polyneuropathy: a randomized clinical trial
Adams, David, Tournev, Ivailo L., Taylor, Mark S., Coelho, Teresa, Planté-Bordeneuve, Violaine, Berk, John L., González-Duarte, Alejandra, Gillmore, Julian D., Low, Soon-Chai, Sekijima, Yoshiki, Obici, Laura, Chen, Chongshu, Badri, Prajakta, Arum, Seth M., Vest, John, Polydefkis, Michael
Published in Amyloid (02.01.2023)
Published in Amyloid (02.01.2023)
Get full text
Journal Article
First European consensus for diagnosis, management, and treatment of transthyretin familial amyloid polyneuropathy
Adams, David, Suhr, Ole B, Hund, Ernst, Obici, Laura, Tournev, Ivailo, Campistol, Josep M, Slama, Michel S, Hazenberg, Bouke P, Coelho, Teresa
Published in Current opinion in neurology (01.02.2016)
Published in Current opinion in neurology (01.02.2016)
Get more information
Journal Article
ATP13A2-mediated endo-lysosomal polyamine export counters mitochondrial oxidative stress
Vrijsen, Stephanie, Besora-Casals, Laura, van Veen, Sarah, Zielich, Jeffrey, Van den Haute, Chris, Hamouda, Norin Nabil, Fischer, Christian, Ghesquière, Bart, Tournev, Ivailo, Agostinis, Patrizia, Baekelandt, Veerle, Eggermont, Jan, Lambie, Eric, Martin, Shaun, Vangheluwe, Peter
Published in Proceedings of the National Academy of Sciences - PNAS (08.12.2020)
Published in Proceedings of the National Academy of Sciences - PNAS (08.12.2020)
Get full text
Journal Article
Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes
Núñez-Carpintero, Iker, Rigau, Maria, Bosio, Mattia, O’Connor, Emily, Spendiff, Sally, Azuma, Yoshiteru, Topf, Ana, Thompson, Rachel, ’t Hoen, Peter A. C., Chamova, Teodora, Tournev, Ivailo, Guergueltcheva, Velina, Laurie, Steven, Beltran, Sergi, Capella-Gutiérrez, Salvador, Cirillo, Davide, Lochmüller, Hanns, Valencia, Alfonso
Published in Nature communications (28.02.2024)
Published in Nature communications (28.02.2024)
Get full text
Journal Article
Identification and Characterization of Novel Founder Mutations in NDRG1 : Refining the Genetic Landscape of Charcot-Marie-Tooth Disease Type 4D in Bulgaria
Atkinson, Derek, Chamova, Teodora, Candayan, Ayse, Kastreva, Kristina, Asenov, Ognian, Litvinenko, Ivan, Estrada-Cuzcano, Alejandro, De Vriendt, Els, Kukushev, Georgi, Tournev, Ivailo, Jordanova, Albena
Published in International journal of molecular sciences (21.08.2024)
Published in International journal of molecular sciences (21.08.2024)
Get full text
Journal Article
Essential components of an effective transition from paediatric to adult neurologist care for adolescents with Duchenne muscular dystrophy; a consensus derived using the Delphi methodology in Eastern Europe, Greece and Israel
Molnar, Maria Judit, Szabó, Léna, Vladacenco, Oana Aurelia, Cobzaru, Ana Maria, Dor, Talya, Dori, Amir, Papadimas, Georgios, Juříková, Lenka, Litvinenko, Ivan, Tournev, Ivailo, Dixon, Craig
Published in Orphanet journal of rare diseases (09.07.2024)
Published in Orphanet journal of rare diseases (09.07.2024)
Get full text
Journal Article
Transcriptional dysregulation by a nucleus-localized aminoacyl-tRNA synthetase associated with Charcot-Marie-Tooth neuropathy
Bervoets, Sven, Wei, Na, Erfurth, Maria-Luise, Yusein-Myashkova, Shazie, Ermanoska, Biljana, Mateiu, Ligia, Asselbergh, Bob, Blocquel, David, Kakad, Priyanka, Penserga, Tyrone, Thomas, Florian P, Guergueltcheva, Velina, Tournev, Ivailo, Godenschwege, Tanja, Jordanova, Albena, Yang, Xiang-Lei
Published in Nature communications (06.11.2019)
Published in Nature communications (06.11.2019)
Get full text
Journal Article
A 15-year consolidated overview of data in over 6000 patients from the Transthyretin Amyloidosis Outcomes Survey (THAOS)
Gentile, Luca, Coelho, Teresa, Dispenzieri, Angela, Conceição, Isabel, Waddington-Cruz, Márcia, Kristen, Arnt, Wixner, Jonas, Diemberger, Igor, Gonzalez-Moreno, Juan, Cariou, Eve, Maurer, Mathew S, Planté-Bordeneuve, Violaine, Garcia-Pavia, Pablo, Tournev, Ivailo, Gonzalez-Costello, Jose, Duarte, Alejandra Gonzalez, Grogan, Martha, Mazzeo, Anna, Chapman, Doug, Gupta, Pritam, Glass, Oliver, Amass, Leslie
Published in Orphanet journal of rare diseases (10.11.2023)
Published in Orphanet journal of rare diseases (10.11.2023)
Get full text
Journal Article
Null Mutations in LTBP2 Cause Primary Congenital Glaucoma
Ali, Manir, McKibbin, Martin, Booth, Adam, Parry, David A., Jain, Payal, Riazuddin, S. Amer, Hejtmancik, J. Fielding, Khan, Shaheen N., Firasat, Sabika, Shires, Mike, Gilmour, David F., Towns, Katherine, Murphy, Anna-Louise, Azmanov, Dimitar, Tournev, Ivailo, Cherninkova, Sylvia, Jafri, Hussain, Raashid, Yasmin, Toomes, Carmel, Craig, Jamie, Mackey, David A., Kalaydjieva, Luba, Riazuddin, Sheikh, Inglehearn, Chris F.
Published in American journal of human genetics (15.05.2009)
Published in American journal of human genetics (15.05.2009)
Get full text
Journal Article
Novel variant c.92T > G (p.Val31Gly) in the PFN1 gene (ALS18) responsible for a specific phenotype in a large Bulgarian amyotrophic lateral sclerosis pedigree
Angelov, Teodor, Chamova, Teodora, Atemin, Slavena, Todorov, Tihomir, Ormandzhiev, Slavko, Tourtourikov, Ivan, Todorova, Albena, Devos, David, Tournev, Ivailo
Published in Frontiers in neurology (09.02.2023)
Published in Frontiers in neurology (09.02.2023)
Get full text
Journal Article
Peripheral myelin protein 2 - a novel cluster of mutations causing Charcot-Marie-Tooth neuropathy
Palaima, Paulius, Chamova, Teodora, Jander, Sebastian, Mitev, Vanyo, Van Broeckhoven, Christine, Tournev, Ivailo, Peeters, Kristien, Jordanova, Albena
Published in Orphanet journal of rare diseases (14.08.2019)
Published in Orphanet journal of rare diseases (14.08.2019)
Get full text
Journal Article
Origins, admixture and founder lineages in European Roma
Martínez-Cruz, Begoña, Mendizabal, Isabel, Harmant, Christine, de Pablo, Rosario, Ioana, Mihai, Angelicheva, Dora, Kouvatsi, Anastasia, Makukh, Halyna, Netea, Mihai G, Pamjav, Horolma, Zalán, Andrea, Tournev, Ivailo, Marushiakova, Elena, Popov, Vesselin, Bertranpetit, Jaume, Kalaydjieva, Luba, Quintana-Murci, Lluis, Comas, David
Published in European journal of human genetics : EJHG (01.06.2016)
Published in European journal of human genetics : EJHG (01.06.2016)
Get full text
Journal Article
Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy
Timmerman, Vincent, Jordanova, Albena, Irobi, Joy, Thomas, Florian P, Van Dijck, Patrick, Meerschaert, Kris, Dewil, Maarten, Dierick, Ines, Jacobs, An, De Vriendt, Els, Guergueltcheva, Velina, Rao, Chitharanjan V, Tournev, Ivailo, Gondim, Francisco A A, D'Hooghe, Marc, Van Gerwen, Veerle, Callaerts, Patrick, Van Den Bosch, Ludo, Timmermans, Jean-Pièrre, Robberecht, Wim, Gettemans, Jan, Thevelein, Johan M, De Jonghe, Peter, Kremensky, Ivo
Published in Nature genetics (01.02.2006)
Published in Nature genetics (01.02.2006)
Get full text
Journal Article
Leber's hereditary optic neuropathy: clinical and genetic analysis of Bulgarian patients
Cherninkova, Sylvia, Zaharova, Boryana, Kamenarova, Kunka, Mihova, Kalina, Atemin, Slavena, Todorov, Tihomir, Haykin, Vasil, Oscar, Alexander, Tournev, Ivailo, Kaneva, Radka, Todorova, Albena
Published in Biotechnology, biotechnological equipment (05.09.2023)
Published in Biotechnology, biotechnological equipment (05.09.2023)
Get full text
Journal Article
Seven Years of Selective Genetic Screening Program and Follow-Up of Asymptomatic Carriers With Hereditary Transthyretin Amyloidosis in Bulgaria
Chamova, Teodora, Gospodinova, Mariana, Asenov, Ognian, Todorov, Tihomir, Pavlova, Zornitsa, Kirov, Andrey, Cherninkova, Sylvia, Kastreva, Kristina, Taneva, Ani, Blagoeva, Stanislava, Zhelyazkova, Sashka, Antimov, Plamen, Chobanov, Kaloian, Todorova, Albena, Tournev, Ivailo
Published in Frontiers in neurology (08.04.2022)
Published in Frontiers in neurology (08.04.2022)
Get full text
Journal Article
Clinical and genetic variability among Bulgarian patients with autosomal recessive spastic ataxia of Charlevoix–Saguenay
Chamova, Teodora, Ivanova, Neviana, Cherninkova, Sylvia, Koleva, Maya, Zlatareva, Dora, Bojinova, Veneta, Mihova, Kalina, Georgiev, Martin, Ferdinandov, Dilyan, Bichev, Stoyan, Kaneva, Radka, Mitev, Vanio, Jordanova, Albena, Tournev, Ivailo
Published in Molecular genetics & genomic medicine (01.07.2024)
Published in Molecular genetics & genomic medicine (01.07.2024)
Get full text
Journal Article
ANO10 c.1150_1151del is a founder mutation causing autosomal recessive cerebellar ataxia in Roma/Gypsies
Chamova, Teodora, Florez, Laura, Guergueltcheva, Velina, Raycheva, Margarita, Kaneva, Radka, Lochmüller, Hanns, Kalaydjieva, Luba, Tournev, Ivailo
Published in Journal of neurology (01.05.2012)
Published in Journal of neurology (01.05.2012)
Get full text
Journal Article
Case Report: Transthyretin Glu54Leu—a rare mutation with predominant cardiac phenotype
Gospodinova, Mariana, Zhelyazkova, Sashka, Chamova, Teodora, Asenov, Ognyan, Pavlova, Zornitsa, Todorov, Tihomir, Mikova, Dilyana, Palashev, Yordan, Gruev, Ivan, Kundurdjiev, Atanas, Todorova, Albena, Tournev, Ivailo
Published in Frontiers in cardiovascular medicine (31.10.2023)
Published in Frontiers in cardiovascular medicine (31.10.2023)
Get full text
Journal Article
Explorative genetic study of UBQLN2 and PFN1 in an extended Flanders-Belgian cohort of frontotemporal lobar degeneration patients
Dillen, Lubina, Van Langenhove, Tim, Engelborghs, Sebastiaan, Vandenbulcke, Mathieu, Sarafov, Stayko, Tournev, Ivailo, Merlin, Celine, Cras, Patrick, Vandenberghe, Rik, De Deyn, Peter P, Jordanova, Albena, Cruts, Marc, Van Broeckhoven, Christine, van der Zee, Julie
Published in Neurobiology of aging (01.06.2013)
Published in Neurobiology of aging (01.06.2013)
Get full text
Journal Article
LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population
AZMANOV, Dimitar N, DIMITROVA, Stanislava, SOODYALL, Himla, CHAKRABARTI, Subhabrata, PADH, Harish, LOPEZ-NEVOT, Miguel A, CHERNODRINSKA, Violeta, ANGUELOV, Botio, MAJUMDER, Partha, ANGELOVA, Lyudmila, KANEVA, Radka, MACKEY, David A, FLOREZ, Laura, TOURNEV, Ivailo, KALAYDJIEVA, Luba, CHERNINKOVA, Sylvia, DRAGANOV, Dragomir, MORAR, Bharti, SAAT, Rosmawati, JUAN, Manel, AROSTEGUI, Juan I, GANGULY, Sriparna
Published in European journal of human genetics : EJHG (01.03.2011)
Published in European journal of human genetics : EJHG (01.03.2011)
Get full text
Journal Article