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Your search keyword '"Guergueltcheva, V."' showing total 12 results
Start Over Author "Guergueltcheva, V." Journal neuromuscular disorders
12 results on '"Guergueltcheva, V."'

1. EP.61DMD gene molecular genetic characterization in Eastern Europe and non European countries

Author

Selvatici, R., primary, Trabanelli, C., additional, Buldrini, B., additional, Fini, S., additional, Gualandi, F., additional, Rimessi, P., additional, Neri, M., additional, Fortunato, F., additional, Potulska, A., additional, Emandi, A., additional, Lehman, I., additional, Herczegfalvi, A., additional, Guergueltcheva, V., additional, Kyriakides, T., additional, Sifi, Y., additional, Molnar, M., additional, Burnyte, B., additional, Shatillo, A., additional, Vlodavets, D., additional, and Ferlini, A., additional

Published
2019
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2. Targeted screening for detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy (LGMD) using dried blood spot (DBS)

Author

Chamova, T., primary, Sinigerska, I., additional, Gospodinova, M., additional, Bojinova, V., additional, Guergueltcheva, V., additional, Genov, K., additional, Staykov, I., additional, Dimitrova, H., additional, Bogdanova, D., additional, Kaprelyan, A., additional, Todorov, T., additional, Todorova, A., additional, and Tournev, I., additional

Published
2016
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4. S.P.47 CARE-NMD: Evaluation and implementation of relevant health related QoL instruments in Duchenne muscular dystrophy

Author

Rahbek, J., primary, Højberg, A., additional, Mahoney, A., additional, Steffensen, B., additional, Rodger, S., additional, Bushby, K., additional, Lochmüller, H., additional, Gramsch, K., additional, Vry, J., additional, Kirschner, J., additional, Antonova, V., additional, Brabek, P., additional, Guergueltcheva, V., additional, Karcagi, V., additional, Herczegfalvi, A., additional, Kostera-Pruszczyk, A., additional, Wasylyszyn, A., additional, Lusakowska, A., additional, Catlin, N., additional, Stringer, S., additional, Mrázová, L., additional, and Vondráèek, P., additional

Published
2012
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5. 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

Author

Rodger, S., primary, Antonova, V., additional, Brabec, P., additional, Catlin, N., additional, Garami, M., additional, Gramsch, K., additional, Guergueltcheva, V., additional, Herczegfalvi, A., additional, Kaminska, A., additional, Karcagi, V., additional, Kostera-Pruszczyk, A., additional, Lusakowska, A., additional, Mahoney, A., additional, Mrázová, L., additional, Pavlovská, L., additional, Rahbek, J., additional, Steffensen, B., additional, Stringer, A., additional, Tournev, I., additional, Vondráček, P., additional, Vry, J., additional, Wasylyszyn, A., additional, Kirschner, J., additional, Bushby, K., additional, and Lochmüller, H., additional

Published
2012
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6. S.P.59 Current care practice in Duchenne Muscular Dystrophy in Europe – results of the CARE-NMD cross-sectional survey

Author

Vry, J., primary, Gramsch, K., additional, Rodger, S., additional, Antonova, V., additional, Brabec, P., additional, Catlin, N., additional, Garami, M., additional, Guergueltcheva, V., additional, Herczegfalvi, A., additional, Kaminska, A., additional, Karcagi, V., additional, Kostera-Pruszczyk, A., additional, Lusakowska, A., additional, Mahoney, A., additional, Mrázová, L., additional, Pavlovská, L., additional, Rahbek, J., additional, Steffensen, B., additional, Stringer, S., additional, Tournev, I., additional, Vondracek, P., additional, Wasylyszyn, A., additional, Bushby, K., additional, Lochmüller, H., additional, and Kirschner, J., additional

Published
2012
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7. G.O.7 Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency

Author

Guergueltcheva, V., primary, Peeters, K., additional, Baets, J., additional, Ceuterick-de Groote, C., additional, Martin, J.J., additional, Suls, A., additional, Vriendt, E.D., additional, Mihaylova, V., additional, Chamova, T., additional, Almeida-Souza, L., additional, Ydens, E., additional, Tzekov, C., additional, Hadjidekov, G., additional, Gospodinova, M., additional, Storm, K., additional, Reyniers, E., additional, Bichev, S., additional, van der Ven, P.F.M., additional, Furst, D.O., additional, Mitev, V., additional, Lochmuller, H., additional, Timmerman, V., additional, Tournev, I., additional, De Jonghe, P., additional, and Jordanova, A., additional

Published
2012
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8. P37 A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome

Author

Chaouch, A., primary, Müller, J.S., additional, Guergueltcheva, V., additional, Dusl, M., additional, Schara, U., additional, Rakocević-Stojanović, V., additional, Lindberg, C., additional, Scola, R.H., additional, Werneck, L.C., additional, Colomer, J., additional, Nascimento, A., additional, Vilchez, J.J., additional, Muelas, N., additional, Argov, Z., additional, Abicht, A., additional, and Lochmüller, H., additional

Published
2012
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11. G.O.5 A new autosomal dominant distal vacuolar myopathy associated with mutation of the nuclear matrix protein, matrin 3

Author

Senderek, J., primary, Garvey, S.M., additional, Krieger, M., additional, Tournev, I., additional, Elbracht, M., additional, Roos, A., additional, Stendel, C., additional, Urtizberea, A., additional, Guergueltcheva, V., additional, Mihailova, V., additional, Feit, H., additional, Tramonte, J., additional, Hedera, P., additional, Bergmann, C., additional, Rudnik-Schöneborn, S., additional, Zerres, K., additional, Lochmüller, H., additional, Seboun, E., additional, Beckmann, J.S., additional, Hauser, M.A., additional, Jackson, C.E., additional, and Weis, J., additional

Published
2009
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12. 237P Advancing the understanding of VAMP1-related congenital myasthenic syndrome: phenotypic insights, favorable response to 3,4-diaminopyridine, and clinical characterization of five new cases.

Author

Natera De Benito, D., Pugliese, A., Polavarapu, K., Guergueltcheva, V., Tournev, I., Todorova, A., Ribeiro, J., Fernández-Mayoralas, D.M., Ortez, C., Martorell, L., Estévez-Arias, B., Matalonga, L., Laurie, S., Jou, C., Lau, J., Thompson, R., Shen, X., Engel, A., Nascimento, A., and Lochmuller, H.

Subjects
*CONGENITAL myasthenic syndromes, *GENETIC counseling, *MYONEURAL junction, *MEMBRANE proteins, *GENETIC variation
Abstract

Congenital myasthenic syndromes (CMS) are a group of inherited neuromuscular junction (NMJ) disorders arising from gene variants encoding diverse NMJ proteins. Recently, the VAMP1 gene, responsible for encoding the vesicle-associated membrane protein 1 (VAMP1), has been associated with CMS. This study presents a characterization of five new individuals with VAMP1-related CMS, providing insights into the phenotype. The individuals with VAMP1-related CMS exhibited early disease onset, presenting symptoms prenatally or during the neonatal period, alongside severe respiratory involvement and feeding difficulties. Generalized weakness at birth was a common feature, and none of the individuals achieved independent walking ability. Notably, all cases exhibited scoliosis. The clinical course remained stable, without typical exacerbations seen in other CMS types. The response to anticholinesterase inhibitors and salbutamol was only partial, but the addition of 3,4-diaminopyridine (3,4-DAP) led to significant and substantial improvements, suggesting therapeutic benefits of 3,4-DAP for managing VAMP1-related CMS symptoms. Noteworthy is the identification of the VAMP1 (NM_014231.5): c.340delA; p.(Ile114SerfsTer72) as a founder variant in the Iberian Peninsula and Latin America. This study contributes valuable insights into VAMP1-related CMS, emphasizing its early onset, arthrogryposis, facial and generalized weakness, respiratory involvement, and feeding difficulties. Furthermore, the potential efficacy of 3,4-DAP as a useful therapeutic option warrants further exploration. The findings have implications for clinical management and genetic counseling in affected individuals. Additional research is necessary to elucidate the long-term outcomes of VAMP1-related CMS. [ABSTRACT FROM AUTHOR]

Published
2024
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