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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Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes
Mihaylova, V, Salih, M A M, Mukhtar, M M, Abuzeid, H A, El-Sadig, S M, von der Hagen, M, Huebner, A, Nürnberg, G, Abicht, A, Müller, J S, Lochmüller, H, Guergueltcheva, V
Published in Neurology (01.12.2009)
Published in Neurology (01.12.2009)
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Four generations of epilepsy caused by an inherited microdeletion of the SCN1A gene
Suls, A, Velizarova, R, Yordanova, I, Deprez, L, Van Dyck, T, Wauters, J, Guergueltcheva, V, Claes, L R F, Kremensky, I, Jordanova, A, De Jonghe, P
Published in Neurology (06.07.2010)
Published in Neurology (06.07.2010)
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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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Molecular characterisation of congenital myasthenic syndromes in Southern Brazil
Mihaylova, V, Scola, R H, Gervini, B, Lorenzoni, P J, Kay, C K, Werneck, L C, Stucka, R, Guergueltcheva, V, von der Hagen, M, Huebner, A, Abicht, A, Müller, J S, Lochmüller, H
Published in Journal of neurology, neurosurgery and psychiatry (01.09.2010)
Published in Journal of neurology, neurosurgery and psychiatry (01.09.2010)
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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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P37 A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome
Chaouch, A, Müller, J.S, Guergueltcheva, V, Dusl, M, Schara, U, Rakocević-Stojanović, V, Lindberg, C, Scola, R.H, Werneck, L.C, Colomer, J, Nascimento, A, Vilchez, J.J, Muelas, N, Argov, Z, Abicht, A, Lochmüller, H
Published in Neuromuscular disorders : NMD (01.03.2012)
Published in Neuromuscular disorders : NMD (01.03.2012)
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P26 Pyridostigmine-responsive limb-girdle congenital myasthenic syndrome with frequent tubular aggregates
Müller, J, Senderek, J, Dusl, M, Guergueltcheva, V, Laval, S, Bushby, K, Straub, V, Beeson, D, Abicht, A, Lochmüller, H
Published in Neuromuscular disorders : NMD (2011)
Published in Neuromuscular disorders : NMD (2011)
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S.P.47 CARE-NMD: Evaluation and implementation of relevant health related QoL instruments in Duchenne muscular dystrophy
Rahbek, J, Højberg, A, Mahoney, A, Steffensen, B, Rodger, S, Bushby, K, Lochmüller, H, Gramsch, K, Vry, J, Kirschner, J, Antonova, V, Brabek, P, Guergueltcheva, V, Karcagi, V, Herczegfalvi, A, Kostera-Pruszczyk, A, Wasylyszyn, A, Lusakowska, A, Catlin, N, Stringer, S, Mrázová, L, Vondráèek, P
Published in Neuromuscular disorders : NMD (01.10.2012)
Published in Neuromuscular disorders : NMD (01.10.2012)
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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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P5.20 Limb Girdle Congenital Myasthenia Syndrome associated with mutations in GFPT1 gene. Report of two patients
Colomer, J, Nascimento, A, Ortez, C, Jimenez-Mallabrera, C, Jou, C, Corbera, J, Guergueltcheva, V, Senderek, J, Müller, J.S, Lochmüller, H
Published in Neuromuscular disorders : NMD (01.10.2011)
Published in Neuromuscular disorders : NMD (01.10.2011)
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Journal Article
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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G.O.5 A new autosomal dominant distal vacuolar myopathy associated with mutation of the nuclear matrix protein, matrin 3
Senderek, J, Garvey, S.M, Krieger, M, Tournev, I, Elbracht, M, Roos, A, Stendel, C, Urtizberea, A, Guergueltcheva, V, Mihailova, V, Feit, H, Tramonte, J, Hedera, P, Bergmann, C, Rudnik-Schöneborn, S, Zerres, K, Lochmüller, H, Seboun, E, Beckmann, J.S, Hauser, M.A, Jackson, C.E, Weis, J
Published in Neuromuscular disorders : NMD (01.09.2009)
Published in Neuromuscular disorders : NMD (01.09.2009)
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Molecular Diagnostics of Duchenne/Becker Muscular Dystrophy Patients by Multiplex Ligation-Dependent Probe Amplification Analysis and Direct Sequencing
Todorova, A, Guergueltcheva, V, Genova, J, Mihaylova, V, Todorov, T, Tchamova, T, Georgieva, B, Kremensky, I, Tournev, I, Mitev, V
Published in Balkan journal of medical genetics (01.01.2009)
Published in Balkan journal of medical genetics (01.01.2009)
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Journal Article
Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect
Senderek, Jan, Müller, Juliane S., Dusl, Marina, Strom, Tim M., Guergueltcheva, Velina, Diepolder, Irmgard, Laval, Steven H., Maxwell, Susan, Cossins, Judy, Krause, Sabine, Muelas, Nuria, Vilchez, Juan J., Colomer, Jaume, Mallebrera, Cecilia Jimenez, Nascimento, Andres, Nafissi, Shahriar, Kariminejad, Ariana, Nilipour, Yalda, Bozorgmehr, Bita, Najmabadi, Hossein, Rodolico, Carmelo, Sieb, Jörn P., Steinlein, Ortrud K., Schlotter, Beate, Schoser, Benedikt, Kirschner, Janbernd, Herrmann, Ralf, Voit, Thomas, Oldfors, Anders, Lindbergh, Christopher, Urtizberea, Andoni, von der Hagen, Maja, Hübner, Angela, Palace, Jacqueline, Bushby, Kate, Straub, Volker, Beeson, David, Abicht, Angela, Lochmüller, Hanns
Published in American journal of human genetics (11.02.2011)
Published in American journal of human genetics (11.02.2011)
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Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe
Bladen, Catherine L., Thompson, Rachel, Jackson, Jacqueline M., Garland, Connie, Wegel, Claire, Ambrosini, Anna, Pisano, Paolo, Walter, Maggie C., Schreiber, Olivia, Lusakowska, Anna, Jedrzejowska, Maria, Kostera-Pruszczyk, Anna, van der Pol, Ludo, Wadman, Renske I., Gredal, Ole, Karaduman, Ayse, Topaloglu, Haluk, Yilmaz, Oznur, Matyushenko, Vitaliy, Rasic, Vedrana Milic, Kosac, Ana, Karcagi, Veronika, Garami, Marta, Herczegfalvi, Agnes, Monges, Soledad, Moresco, Angelica, Chertkoff, Lilien, Chamova, Teodora, Guergueltcheva, Velina, Butoianu, Niculina, Craiu, Dana, Korngut, Lawrence, Campbell, Craig, Haberlova, Jana, Strenkova, Jana, Alejandro, Moises, Jimenez, Alatorre, Ortiz, Genaro Gabriel, Enriquez, Gracia Viviana Gonzalez, Rodrigues, Miriam, Roxburgh, Richard, Dawkins, Hugh, Youngs, Leanne, Lahdetie, Jaana, Angelkova, Natalija, Saugier-Veber, Pascal, Cuisset, Jean-Marie, Bloetzer, Clemens, Jeannet, Pierre-Yves, Klein, Andrea, Nascimento, Andres, Tizzano, Eduardo, Salgado, David, Mercuri, Eugenio, Sejersen, Thomas, Kirschner, Jan, Rafferty, Karen, Straub, Volker, Bushby, Kate, Verschuuren, Jan, Beroud, Christophe, Lochmüller, Hanns
Published in Journal of neurology (2014)
Published in Journal of neurology (2014)
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EP.61DMD gene molecular genetic characterization in Eastern Europe and non European countries
Selvatici, R., Trabanelli, C., Buldrini, B., Fini, S., Gualandi, F., Rimessi, P., Neri, M., Fortunato, F., Potulska, A., Emandi, A., Lehman, I., Herczegfalvi, A., Guergueltcheva, V., Kyriakides, T., Sifi, Y., Molnar, M., Burnyte, B., Shatillo, A., Vlodavets, D., Ferlini, A.
Published in Neuromuscular disorders : NMD (01.10.2019)
Published in Neuromuscular disorders : NMD (01.10.2019)
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