POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern
Servián-Morilla, E., Cabrera-Serrano, M., Johnson, K., Pandey, A., Ito, A., Rivas, E., Chamova, T., Muelas, N., Mongini, T., Nafissi, S., Claeys, K. G., Grewal, R. P., Takeuchi, M., Hao, H., Bönnemann, C., Lopes Abath Neto, O., Medne, L., Brandsema, J., Töpf, A., Taneva, A., Vilchez, J. J., Tournev, I., Haltiwanger, R. S., Takeuchi, H., Jafar-Nejad, H., Straub, V., Paradas, Carmen
Published in Acta neuropathologica (01.03.2020)
Published in Acta neuropathologica (01.03.2020)
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Rare case of mitochondrial cardiomyopathy in adolescent girl
Bardarska, L, Genova, K, Shomanova, Z, Chamova, T, Tournev, I, Gospodinova, M, Kaneva, A
Published in Bʺlgarska kardiologiâ (11.09.2024)
Published in Bʺlgarska kardiologiâ (11.09.2024)
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Molecular-genetic profile in patients with cardiomyopathy in Bulgaria
Angelova, P, Stoyanov, N, Velchev, V, Atemin, S, Sleptsova, M, Todorov, T, Gencheva, D, Gospodinova, M, Pechilkov, D, Dasheva, A, Tchamova, T, Taneva, A, Tournev, I, Mitev, V, Todorova, A
Published in Bʺlgarska kardiologiâ (11.09.2024)
Published in Bʺlgarska kardiologiâ (11.09.2024)
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Hereditary and wild type transthyretin amyloid cardiomyopathy in Bulgaria in patients suspected for cardiac amyloidosis
Stefanov, S, Stoyanov, N, Koleva, N, Mikova, D, Yordanov, A, Pavlova, Z, Kinova, E, Petrova, I, Demirevska, L, Todorov, T, Chamova, T, Garcheva, M, Kundurdjiev, A, Todorova, A, Tournev, I, Palashev, Y, Daskalov, I, Dimova, M, Gruev, I, Yotov, Y, Goudev, A, Velchev, V, Gospodinova, Mariana
Published in Bʺlgarska kardiologiâ (04.09.2024)
Published in Bʺlgarska kardiologiâ (04.09.2024)
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Targeted Screening of the C9orf72 Gene in Bulgarian Amyotrophic Lateral Sclerosis Patients
Ormandzhiev, S., Todorov, T., Angelov, T., Chamova, T., Mitev, V., Todorova, A., Tournev, I.
Published in Acta Medica Bulgarica (01.04.2022)
Published in Acta Medica Bulgarica (01.04.2022)
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Association between loss of dp140 and cognitive impairment in duchenne and becker dystrophies
Chamova, T, Guergueltcheva, V, Raycheva, M, Todorov, T, Genova, J, Bichev, S, Bojinova, V, Mitev, V, Tournev, I, Todorova, A
Published in Balkan journal of medical genetics (01.06.2013)
Published in Balkan journal of medical genetics (01.06.2013)
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Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency
Guergueltcheva, V, Peeters, K, Baets, J, Ceuterick-de Groote, C, Martin, J J, Suls, A, De Vriendt, E, Mihaylova, V, Chamova, T, Almeida-Souza, L, Ydens, E, Tzekov, C, Hadjidekov, G, Gospodinova, M, Storm, K, Reyniers, E, Bichev, S, van der Ven, P F M, Fürst, D O, Mitev, V, Lochmüller, H, Timmerman, V, Tournev, I, De Jonghe, P, Jordanova, A
Published in Neurology (13.12.2011)
Published in Neurology (13.12.2011)
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Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot–Marie–Tooth disease
Jordanova, A., De Jonghe, P., Boerkoel, C. F., Takashima, H., De Vriendt, E., Ceuterick, C., Martin, J.‐J., Butler, I. J., Mancias, P., Papasozomenos, S. Ch, Terespolsky, D., Potocki, L., Brown, C. W., Shy, M., Rita, D. A., Tournev, I., Kremensky, I., Lupski, J. R., Timmerman, V.
Published in Brain (London, England : 1878) (01.03.2003)
Published in Brain (London, England : 1878) (01.03.2003)
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Targeted screening for detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy (LGMD) using dried blood spot (DBS)
Chamova, T, Sinigerska, I, Gospodinova, M, Bojinova, V, Guergueltcheva, V, Genov, K, Staykov, I, Dimitrova, H, Bogdanova, D, Kaprelyan, A, Todorov, T, Todorova, A, Tournev, I
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
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Possible toxicity of tuberculostatic agents in a patient with a novel TYMP mutation leading to mitochondrial neurogastrointestinal encephalomyopathy
Guergueltcheva, V, Cherninkova, S, Penev, L, Georgieva, G, Stoyanova, K, Todorova, A, Tournev, I
Published in Journal of the neurological sciences (15.10.2013)
Published in Journal of the neurological sciences (15.10.2013)
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G.P.237
Peeters, K, Litvinenko, I, Chamova, T, Asselbergh, B, Almeida-Souza, L, Geuens, T, Ydens, E, Zimon, M, Irobi, J, Vriendt, E. De, Winter, V. De, Ooms, T, Timmerman, V, Tournev, I, Jordanova, A
Published in Neuromuscular disorders : NMD (01.10.2014)
Published in Neuromuscular disorders : NMD (01.10.2014)
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GNE protein expression and subcellular distribution are unaltered in HIBM
Krause, S, Aleo, A, Hinderlich, S, Merlini, L, Tournev, I, Walter, M C, Argov, Z, Mitrani-Rosenbaum, S, Lochmüller, H
Published in Neurology (14.08.2007)
Published in Neurology (14.08.2007)
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Genetic heterogeneity and minor CYP1B1 involvement in the molecular basis of primary congenital glaucoma in Gypsies
Sivadorai, P, Cherninkova, S, Bouwer, S, Kamenarova, K, Angelicheva, D, Seeman, P, Hollingsworth, K, Mihaylova, V, Oscar, A, Dimitrova, G, Kaneva, R, Tournev, I, Kalaydjieva, L
Published in Clinical genetics (01.07.2008)
Published in Clinical genetics (01.07.2008)
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S.P.59 Current care practice in Duchenne Muscular Dystrophy in Europe – results of the CARE-NMD cross-sectional survey
Vry, J, Gramsch, K, Rodger, S, Antonova, V, Brabec, P, Catlin, N, Garami, M, Guergueltcheva, V, Herczegfalvi, A, Kaminska, A, Karcagi, V, Kostera-Pruszczyk, A, Lusakowska, A, Mahoney, A, Mrázová, L, Pavlovská, L, Rahbek, J, Steffensen, B, Stringer, S, Tournev, I, Vondracek, P, Wasylyszyn, A, Bushby, K, Lochmüller, H, Kirschner, J
Published in Neuromuscular disorders : NMD (01.10.2012)
Published in Neuromuscular disorders : NMD (01.10.2012)
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DATABASES, REGISTRIES AND BIOMARKERS - POSTER PRESENTATIONS S.P.30 CARE-NMD: The role of patient registries in an international study of care in Duchenne muscular dystrophy
Rodger, S, Antonova, V, Brabec, P, Catlin, N, Garami, M, Gramsch, K, Guergueltcheva, V, Herczegfalvi, A, Kaminska, A, Karcagi, V, Kostera-Pruszczyk, A, Lusakowska, A, Mahoney, A, Mrázová, L, Pavlovská, L, Rahbek, J, Steffensen, B, Stringer, A, Tournev, I, Vondráček, P, Vry, J, Wasylyszyn, A, Kirschner, J, Bushby, K, Lochmüller, H
Published in Neuromuscular disorders : NMD (01.10.2012)
Published in Neuromuscular disorders : NMD (01.10.2012)
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G.O.7 Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency
Guergueltcheva, V, Peeters, K, Baets, J, Ceuterick-de Groote, C, Martin, J.J, Suls, A, Vriendt, E.D, Mihaylova, V, Chamova, T, Almeida-Souza, L, Ydens, E, Tzekov, C, Hadjidekov, G, Gospodinova, M, Storm, K, Reyniers, E, Bichev, S, van der Ven, P.F.M, Furst, D.O, Mitev, V, Lochmuller, H, Timmerman, V, Tournev, I, De Jonghe, P, Jordanova, A
Published in Neuromuscular disorders : NMD (01.10.2012)
Published in Neuromuscular disorders : NMD (01.10.2012)
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