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Browsing by Author Tournev, Ivailo
Showing results 1 to 5 of 5
| Issue Date | Title | Author(s) | Type | Мp-cat. |
|---|---|---|---|---|
| 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; | Article | 21M21 |
| 2012 | Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia | Zimoń, Magdalena; Baets, Jonathan; Almeida-Souza, Leonardo; De, Vriendt Els; Nikodinovic, Jelena; Parman, Yesim; Battaloǧlu, Esra; Matur, Zeliha; Guergueltcheva, Velina; Tournev, Ivailo;
Auer-Grumbach, Michaela; De, Rijk Peter; Petersen, Britt-Sabina; Müller, Thomas; Fransen, Erik; Van, Damme Philip; Löscher, Wolfgang N; Barišić, Nina; Mitrovic, Zoran; Previtali, Stefano C; Topaloǧlu, Haluk; Bernert, Günther; Beleza-Meireles, Ana; Todorovic, Slobodanka; Savić Pavićević, Dušanka
; Ishpekova, Boryana; Lechner, Silvia; Peeters, Kristien; Ooms, Tinne; Hahn, Angelika F; Züchner, Stephan; Timmerman, Vincent; Van, Dijck Patrick; Milić Rašić, Vedrana ; Janecke, Andreas R; De, Jonghe Peter; Jordanova, Albena; | Article | 21a+M21a+ |
| 2021 | Recommendations for the diagnosis and management of transthyretin amyloidosis with gastrointestinal manifestations | Nakov, Radislav; Suhr, Ole B; Ianiro, Gianluca; Kupcinskas, Juozas; Segal, Jonathon P; Dumitrascu, Dan L; Heinrich, Henriette; Mikolasevic, Ivana; Stojkovic-Lalosevic, Milica L; Barbov, Ivan;
Sarafov, Stayko; Tournev, Ivailo; Nakov, Ventsislav; Wixner, Jonas;
| Article | 22M22 |
| 2016 | Seemingly dominant inheritance of a recessive ANO10 mutation in romani families with cerebellar ataxia | Dragašević-Mišković, Nataša ; Domingo, Aloysius; Dobričić, Valerija ; Max, Christoph; Braenne, Ingrid; Petrović, Igor ; Grütz, Karen; Pawlack, Heike; Tournev, Ivailo; Kalaydjieva, Luba;
Svetel, Marina
; Lohmann, Katja; Kostić, Vladimir ; Westenberger, Ana; | Contribution to periodical | 21aM21a |
| 2016 | Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families | Sass, Jörn Oliver; Gemperle-Britschgi, Corinne; Tarailo Graovac, Maja ; Patel, Nisha; Walter, Melanie; Jordanova, Albena; Alfadhel, Majid; Barić, Ivo; Çoker, Mahmut; Damli-Huber, Aynur;
Faqeih, Eissa Ali; García, Segarra Nuria; Geraghty, Michael T.; Jåtun, Bjørn Magne; Kalkan, Uçar Sema; Kriewitz, Merten; Rauchenzauner, Markus; Bilić, Karmen; Tournev, Ivailo; Till, Claudia; Sayson, Bryan; Beumer, Daniel; Ye, Cynthia Xin; Zhang, Lin-Hua; Vallance, Hilary; Alkuraya, Fowzan S.; van, Karnebeek Clara D.M.;
| Article | 21M21 |