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Преглед према Аутор Lochmüller, Hanns
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| Година | Наслов | Аутор(и) | Тип резултата | Мп-кат. |
|---|---|---|---|---|
| 2017 | A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population. (✓) | Perić, Stojan  ; Nikodinović-Glumac, Jelena; Töpf, Ana; Savić-Pavićević, Dušanka  ; Phillips, Lauren; Johnson, Katherine; Cassop-Thompson, Marcus; Xu, Liwen; Bertoli, Marta; Lek, Monkol;
MacArthur, Daniel; Brkušanin, Miloš
; Milenković, Sanja ; Milić-Rašić, Vedrana ; Banko, Bojan ; Maksimović, Ružica ; Lochmüller, Hanns; Stojanović, Vidosava ; Straub, Volker; | Научни чланак | 21M21 - Рад у врхунском међ. часопису |
| 2011 | A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome | Chaouch, Amina; Müller, Juliane S.; Guergueltcheva, Velina; Dusl, Marina; Schara, Ulrike; Stojanović, Vidosava ; Lindberg, Christopher; Scola, Rosana H.; Werneck, Lineu C.; Colomer, Jaume;
Nascimento, Andres; Vilchez, Juan J.; Muelas, Nuria; Argov, Zohar; Abicht, Angela; Lochmüller, Hanns;
| Научни чланак | 21M21 - Рад у врхунском међ. часопису |
| 2014 | ANO10 mutations cause ataxia and coenzyme Q10 deficiency | Balreira, Andrea; Boczonadi, Veronika; Barca, Emanuele; Pyle, Angela; Bansagi, Boglarka; Appleton, Marie; Graham, Claire; Hargreaves, Iain P.; Rasic, Vedrana Milic; Lochmüller, Hanns;
Griffin, Helen; Taylor, Robert W.; Naini, Ali; Chinnery, Patrick F.; Hirano, Michio; Quinzii, Catarina M.; Horvath, Rita;
| Научни чланак | 21M21 - Рад у врхунском међ. часопису |
| 2018 | Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease | Wood, Libby; Bassez, Guillaume; Bleyenheuft, Corinne; Campbell, Craig; Cossette, Louise; Jimenez-Moreno, Aura Cecilia; Dai, Yi; Dawkins, Hugh; Manera, Jorge Alberto Diaz; Dogan, Celine;
el, Sherif Rasha; Fossati, Barbara; Graham, Caroline; Hilbert, James; Kastreva, Kristinia; Kimura, En; Korngut, Lawrence; Kostera-Pruszczyk, Anna; Lindberg, Christopher; Lindvall, Bjorn; Luebbe, Elizabeth; Lusakowska, Anna; Mazanec, Radim; Meola, Giovani; Orlando, Liannna; Takahashi, Masanori P.; Perić, Stojan
; Puymirat, Jack; Stojanović, Vidosava ; Rodrigues, Miriam; Roxburgh, Richard; Schoser, Benedikt; Segovia, Sonia; Shatillo, Andriy; Thiele, Simone; Tournev, Ivailo; van, Engelen Baziel; Vohanka, Stanislav; Lochmüller, Hanns; | Научни чланак | 21M21 - Рад у врхунском међ. часопису |
| 2013 | 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;
| Научни чланак | 21M21 - Рад у врхунском међ. часопису |
| 2010 | Targeted Next-Generation Sequencing of a 12.5 Mb Homozygous Region Reveals ANO10 Mutations in Patients with Autosomal-Recessive Cerebellar Ataxia | Vermeer, Sascha; Hoischen, Alexander; Meijer, Rowdy P.P.; Gilissen, Christian; Neveling, Kornelia; Wieskamp, Nienke; de, Brouwer Arjan; Koenig, Michel; Anheim, Mathieu; Assoum, Mirna;
Drouot, Nathalie; Todorovic, Slobodanka; Milić Rašić, Vedrana
; Lochmüller, Hanns; Stevanin, Giovanni; Goizet, Cyril; David, Albert; Durr, Alexandra; Brice, Alexis; Kremer, Berry; van, de Warrenburg Bart P.C.; Schijvenaars, Mascha M.V.A.P.; Heister, Angelien; Kwint, Michael; Arts, Peer; van, der Wijst Jenny; Veltman, Joris; Kamsteeg, Erik-Jan; Scheffer, Hans; Knoers, Nine; | Научни чланак | 21aM21a - Рад у међ. часопису изузетних вредности |
| 2015 | The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations | Bladen, Catherine L.; Salgado, David; Monges, Soledad; Foncuberta, Maria E.; Kekou, Kyriaki; Kosma, Konstantina; Dawkins, Hugh; Lamont, Leanne; Roy, Anna J.; Chamova, Teodora;
Guergueltcheva, Velina; Chan, Sophelia; Korngut, Lawrence; Campbell, Craig; Dai, Yi; Wang, Jen; Barišić, Nina; Brabec, Petr; Lahdetie, Jaana; Walter, Maggie C.; Schreiber-Katz, Olivia; Karcagi, Veronika; Garami, Marta; Viswanathan, Venkatarman; Bayat, Farhad; Buccella, Filippo; Kimura, En; Koeks, Zaïda; van, den Bergen Janneke C.; Rodrigues, Miriam; Roxburgh, Richard; Lusakowska, Anna; Kostera-Pruszczyk, Anna; Zimowski, Janusz; Santos, Rosário; Neagu, Elena; Artemieva, Svetlana; Rasic, Vedrana Milic; Vojinovic, Dina; Posada, Manuel; Bloetzer, Clemens; Jeannet, Pierre-Yves; Joncourt, Franziska; Díaz-Manera, Jordi; Gallardo, Eduard; Karaduman, A. Ayşe; Topaloğlu, Haluk; El, Sherif Rasha; Stringer, Angela; Shatillo, Andriy V.; Martin, Ann S.; Peay, Holly L.; Bellgard, Matthew I.; Kirschner, Jan; Flanigan, Kevin M.; Straub, Volker; Bushby, Kate; Verschuuren, Jan; Aartsma-Rus, Annemieke; Béroud, Christophe; Lochmüller, Hanns;
| Научни чланак | 21M21 - Рад у врхунском међ. часопису |
| 2013 | The TREAT-NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia | Bladen, Catherine L.; Rafferty, Karen; Straub, Volker; Monges, Soledad; Moresco, Angélica; Dawkins, Hugh; Roy, Anna; Chamova, Teodora; Guergueltcheva, Velina; Korngut, Lawrence;
Campbell, Craig; Dai, Yi; Barišić, Nina; Kos, Tea; Brabec, Petr; Rahbek, Jes; Lahdetie, Jaana; Tuffery-Giraud, Sylvie; Claustres, Mireille; Leturcq, France; Ben, Yaou Rabah; Walter, Maggie C.; Schreiber, Olivia; Karcagi, Veronika; Herczegfalvi, Agnes; Viswanathan, Venkatarman; Bayat, Farhad; de, la caridad Guerrero Sarmiento Isis; Ambrosini, Anna; Ceradini, Francesca; Kimura, En; van, den Bergen Janneke C.; Rodrigues, Miriam; Roxburgh, Richard; Lusakowska, Anna; Oliveira, Jorge; Santos, Rosário; Neagu, Elena; Butoianu, Niculina; Artemieva, Svetlana; Rasic, Vedrana Milic; Posada, Manuel; Palau, Francesc; Lindvall, Björn; Bloetzer, Clemens; Karaduman, Ayşe; Topaloğlu, Haluk; Inal, Serap; Oflazer, Piraye; Stringer, Angela; Shatillo, Andriy V.; Martin, Ann S.; Peay, Holly; Flanigan, Kevin M.; Salgado, David; von, Rekowski Brigitta; Lynn, Stephen; Heslop, Emma; Gainotti, Sabina; Taruscio, Domenica; Kirschner, Jan; Verschuuren, Jan; Bushby, Kate; Béroud, Christophe; Lochmüller, Hanns;
| Научни чланак | 21M21 - Рад у врхунском међ. часопису |