Toward a sustainable European Network for Health Technology Assessment. The EUnetHTA project by Kristensen, F B, Chamova, J, Hansen, N W

Get full text

PNS179 HTA IMPLEMENTATION IN MIDDLE EAST AND NORTH AFRICA: COMPARISON OF CURRENT AND PREFERRED STATUS by Fasseeh, A.N., George, M., El Rabbat, M., Al Rabayah, A.A., Karam, R., Kristensen, F.B., Moneim, A.R.I.A., Jameleddine, M., Al-Saggabi, A.H., Alowayesh, M.S., Abaza, S., Chamova, J., Kalo, Z.

Get full text

European network for Health Technology Assessment, EUnetHTA: Planning, development, and implementation of a sustainable European network for Health Technology Assessment by Kristensen, Finn Børlum, Mäkelä, Marjukka, Neikter, Susanna Allgurin, Rehnqvist, Nina, Håheim, Lise Lund, Mørland, Berit, Milne, Ruairidh, Nielsen, Camilla Palmhøj, Busse, Reinhard, Lee-Robin, Sun Hae, Wild, Claudia, Espallargues, Mireia, Chamova, Julia

Get full text

POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern by 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

Get full text

Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe by 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

Get full text

Association between loss of dp140 and cognitive impairment in duchenne and becker dystrophies by Chamova, T, Guergueltcheva, V, Raycheva, M, Todorov, T, Genova, J, Bichev, S, Bojinova, V, Mitev, V, Tournev, I, Todorova, A

Get full text

Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement by Azmanov, Dimitar N, Siira, Stefan J, Chamova, Teodora, Kaprelyan, Ara, Guergueltcheva, Velina, Shearwood, Anne-Marie J, Liu, Ganqiang, Morar, Bharti, Rackham, Oliver, Bynevelt, Michael, Grudkova, Margarita, Kamenov, Zdravko, Svechtarov, Vassil, Tournev, Ivailo, Kalaydjieva, Luba, Filipovska, Aleksandra

Get full text

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia by Farazi Fard, Mohammad Ali, Rebelo, Adriana P., Buglo, Elena, Nemati, Hamid, Dastsooz, Hassan, Gehweiler, Ina, Reich, Selina, Reichbauer, Jennifer, Quintáns, Beatriz, Ordóñez-Ugalde, Andrés, Cortese, Andrea, Courel, Steve, Abreu, Lisa, Powell, Eric, Danzi, Matt C., Martuscelli, Nicole B., Bis-Brewer, Dana M., Tao, Feifei, Zarei, Fariba, Habibzadeh, Parham, Yavarian, Majid, Modarresi, Farzaneh, Silawi, Mohammad, Tabatabaei, Zahra, Yousefi, Masoume, Farpour, Hamid Reza, Kessler, Christoph, Mangold, Elisabeth, Kobeleva, Xenia, Tournev, Ivailo, Chamova, Teodora, Mueller, Amelie J., Haack, Tobias B., Tarnopolsky, Mark, Gan-Or, Ziv, Rouleau, Guy A., Synofzik, Matthis, Sobrido, María-Jesús, Jordanova, Albena, Schüle, Rebecca, Zuchner, Stephan, Faghihi, Mohammad Ali

Get full text

Novel form of complicated hereditary spastic paraplegia (SPG78), due to mutations in the ATP13A2/PARK9 gene by Chamova, T., Estrada-Cuzcano, A., Martin, S., Holemans, T., Andreeva, A., Rycke, R.D., Chang, D.I., van Veen, S., Samuel, J., Sørensen, D.M., Asselbergh, B., Zuchner, S., Jordanova, A., Vangheluwe, P., Tournev, I.

Get full text

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia by Farazi Fard, Mohammad Ali, Rebelo, Adriana P., Buglo, Elena, Nemati, Hamid, Dastsooz, Hassan, Gehweiler, Ina, Reich, Selina, Reichbauer, Jennifer, Quintáns, Beatriz, Ordóñez-Ugalde, Andrés, Cortese, Andrea, Courel, Steve, Abreu, Lisa, Powell, Eric, Danzi, Matt C., Martuscelli, Nicole B., Bis-Brewer, Dana M., Tao, Feifei, Zarei, Fariba, Habibzadeh, Parham, Yavarian, Majid, Modarresi, Farzaneh, Silawi, Mohammad, Tabatabaei, Zahra, Yousefi, Masoume, Farpour, Hamid Reza, Kessler, Christoph, Mangold, Elisabeth, Kobeleva, Xenia, Tournev, Ivailo, Chamova, Teodora, Mueller, Amelie J., Haack, Tobias B., Tarnopolsky, Mark, Gan-Or, Ziv, Rouleau, Guy A., Synofzik, Matthis, Sobrido, María-Jesús, Jordanova, Albena, Schüle, Rebecca, Zuchner, Stephan, Faghihi, Mohammad Ali

Get full text

G.P.237 by 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

Get full text

Founder p.Arg 446 mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children by Ivanov, Ivan S., Azmanov, Dimitar N., Ivanova, Mariya B., Chamova, Teodora, Pacheva, Ilyana H., Panova, Margarita V., Song, Sharon, Morar, Bharti, Yordanova, Ralitsa V., Galabova, Fani K., Sotkova, Iglika G., Linev, Alexandar J., Bitchev, Stoyan, Shearwood, Anne-Marie J., Kancheva, Dalia, Gabrikova, Dana, Karcagi, Veronika, Guergueltcheva, Velina, Geneva, Ina E., Bozhinova, Veneta, Stoyanova, Vili K., Kremensky, Ivo, Jordanova, Albena, Savov, Aleksey, Horvath, Rita, Brown, Matthew A., Tournev, Ivailo, Filipovska, Aleksandra, Kalaydjieva, Luba

Get full text

G.P.237: Autosomal-dominant spinal muscular atrophy due to mutations in BICD2 gene in Bulgarian patients by 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.

Get full text

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

Get full text