Претрага
Резултати
The international database of titin gene variations and their phenotypes [2018]
Hackman, P; Savarese, M; Bonnemann, C; Ferreiro, A; Beggs, A; Dawson, Jesse; Thompson, R; Evangelista, T; Lochmuller, H; Nikodinovic-Glumac, Jelena;
Jungbluth, H; Foye, S; Udd, B;
Detection of TRIM32 variants associated with LGMD2H in a large cohort of patients with unexplained limb-girdle weakness
[2017]
Johnson, Katherine; ...; Rakočević-Stojanović, Vidosava M. Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go
[2021]
Dangouloff, Tamara; Vrščaj, Eva; Servais, Laurent; Osredkar, Damjan; Adoukonou, Thierry; Aryani, Omid; Barisic, Nina; Bashiri, Fahad; Bastaki, Laila; Benitto, Afaf;
Omran, Tawfeg Ben; Bernert, Guenther; Bertini, Enrico; Borde, Patricia; Born, Peter; Boustani, Rose-Mary; Butoianu, Nina; Castiglioni, Claudia; Catibusic, Feriha; Chan, Sophelia; Chien, Yin Hsiu; Christodoulou, Kyproula; Dejsuphong, Donniphat; Farrar, Michelle; Filip, Duma; Goemans, Nathalie; Guinhouya, Kokou; Haberlova, Jana; Hadzsiev, Kinga; Hovhannesyan, Kristine; Isohanni, Pirjo; Ivanovic Radovic, Nelica; Jacquier, David; Jalloh, Alusine; Jedrzejowska, Maria; Kandawasvika, Gwen; Kaputu, Celestin; Kawatu, Nfwama; Kernohan, Kristin; Kirschner, Jan; Klink, Barbara; Kodsy, Sherry; Kouame-Assouan, Ange-Eric; Kravljanac, Ružica
; Kreile, Madara; Litvinenko, Ivan; McMillan, Hugh; Mesa, Sandra; Mohamed, Inaam; Muaremoska Kanzoska, Liljana; Nevo, Yoram; Nguefack, Seraphin; Nkole, Kafula; O'Grady, Gina; O'Rourke, Declan; Oskoui, Maryam; Piazzon, Flavia; Poddighe, Dimitri; Prasauskiene, Audrone; Prieto, Juan; Rasmussen, Magnhild; Razafindrasata, Santara; Saha, Narayan; Saito, Kayoko; Sakadi, Foksouna; Sangare, Modibo; Schroth, Mary; Shalkevich, Leanid; Shatillo, Andriy; Suthar, Renu; Szabo, Lena; Tatishvili, Nana; Tazir, Meriem; Tizzano, Eduardo; Topaloglu, Haluk; Tulinius, Mar; van der Pol, Ludo; Vazquez, Gabriel; Vlodavets, Dimitry; Wanigasinghe, Jithangi; Wilmshurst, Jo; Xiong, Hui; Zafeiriou, Dimitrios; Zamba, Eleni;
Efficacy of givinostat by age (6-7 and > 7 years): a post hoc analysis of EPIDYS [2025]
Vucinic, D; Laverty, C; Alessi, F; Coceani, N; Bettica, P; Nevo, YDisease burden in Serbian patients with facioscapulohumeral muscular dystrophy
[2025]
Ralić, Branislav; Albano, N.; Virić, Vanja Application of exome sequencing technologies: A case study of patients with unexplained limb-girdle muscle weakness harbouring GAA mutations
[2016]
Johnson, Katherine; Bertoli, Marta; Phillips, Lauren; Töpf, Ana; Claeys, Kristl; Rakočević-Stojanović, Vidosava M.
Akay, Ela; Bastian, Alexandra E.; Lusakowska, Anna; Lek, Monkol; Xu, Liwen; MacArthur, Daniel; Straub, Volker;
Short-term and long-term safety profile of Givinostat in Duchenne muscular dystrophy [2024]
Vucinic, Dragana M; Nascimento, A; Finkel, R; Brandsema, J; Finanger, E; Harper, A; Acsadi, G; Nevo, Y; Houwen, van Opstal S; Blaschek, A;
Coceani, N; Cazzaniga, S; Bettica, P; Muelas, N;
Impaired iron-sulfur cluster assembly due to biallelic variants in CIAO1 leads to a novel muscle disease
[2023]
Bach, Or R; ...; Perić, Stojan Z. Main features and disease outcome of congenital myotonic dystrophy- experience from a single tertiary center
[2024]
Ostojić, Slavica B.; Kovačević, Gordana S. Impact of discontinuation and reintroduction of alglucoidase alpha in patients with late-onset Pompe disease
[2024]
Andrejić, Nikola; Virić, Vanja Филтери
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