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Owolabi, Mayowa O; Leonardi, Matilde; Bassetti, Claudio; Jaarsma, Joke; Hawrot, Tadeusz; Makanjuola, Akintomiwa I; Dhamija, Rajinder K; Feng, Wuwei; Straub, Volker; Camaradou, Jennifer; Dodick, David W; Sunna, Rosita; Menon, Bindu; Wright, Claire; Lynch, Chris; Chadha, Antonella Santuccione; Ferretti, Maria Teresa; Dé, Anna; Catsman-Berrevoets, Coriene E; Gichu, Muthoni; ... (2023). Global synergistic actions to improve brain health for human development. Nature reviews. Neurology, 19(6), pp. 371-383. Nature Publishing Group 10.1038/s41582-023-00808-z
Kim, Hong Joo; Mohassel, Payam; Donkervoort, Sandra; Guo, Lin; O'Donovan, Kevin; Coughlin, Maura; Lornage, Xaviere; Foulds, Nicola; Hammans, Simon R; Foley, A Reghan; Fare, Charlotte M; Ford, Alice F; Ogasawara, Masashi; Sato, Aki; Iida, Aritoshi; Munot, Pinki; Ambegaonkar, Gautam; Phadke, Rahul; O'Donovan, Dominic G; Buchert, Rebecca; ... (2022). Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy. Nature Communications, 13(1), p. 2306. Springer Nature 10.1038/s41467-022-30015-1
Töpf, Ana; Johnson, Katherine; Bates, Adam; Phillips, Lauren; Chao, Katherine R; England, Eleina M; Laricchia, Kristen M; Mullen, Thomas; Valkanas, Elise; Xu, Liwen; Bertoli, Marta; Blain, Alison; Casasús, Ana B; Duff, Jennifer; Mroczek, Magdalena; Specht, Sabine; Lek, Monkol; Ensini, Monica; MacArthur, Daniel G and Straub, Volker (2020). Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness. Genetics in medicine, 22(9), pp. 1478-1488. Springer Nature 10.1038/s41436-020-0840-3
Barp, Andrea; Laforet, Pascal; Bello, Luca; Tasca, Giorgio; Vissing, John; Monforte, Mauro; Ricci, Enzo; Choumert, Ariane; Stojkovic, Tanya; Malfatti, Edoardo; Pegoraro, Elena; Semplicini, Claudio; Stramare, Roberto; Scheidegger, Oliver; Haberlova, Jana; Straub, Volker; Marini-Bettolo, Chiara; Løkken, Nicoline; Diaz-Manera, Jordi; Urtizberea, Jon A; ... (2020). European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A). Journal of neurology, 267(1), pp. 45-56. Springer-Medizin-Verlag 10.1007/s00415-019-09539-y
Strijkers, Gustav J; Araujo, Ericky C A; Azzabou, Noura; Bendahan, David; Blamire, Andrew; Burakiewicz, Jedrek; Carlier, Pierre G; Damon, Bruce; Deligianni, Xeni; Froeling, Martijn; Heerschap, Arend; Hollingsworth, Kieren G; Hooijmans, Melissa T; Karampinos, Dimitrios C; Loudos, George; Madelin, Guillaume; Marty, Benjamin; Nagel, Armin M; Nederveen, Aart J; Nelissen, Jules L; ... (2019). Exploration of New Contrasts, Targets, and MR Imaging and Spectroscopy Techniques for Neuromuscular Disease - A Workshop Report of Working Group 3 of the Biomedicine and Molecular Biosciences COST Action BM1304 MYO-MRI. Journal of neuromuscular diseases, 6(1), pp. 1-30. IOS Press 10.3233/JND-180333
Koeks, Zaïda; Bladen, Catherine L; Salgado, David; van Zwet, Erik; Pogoryelova, Oksana; McMacken, Grace; Monges, Soledad; Foncuberta, Maria E; Kekou, Kyriaki; Kosma, Konstantina; Dawkins, Hugh; Lamont, Leanne; Bellgard, Matthew I; Roy, Anna J; Chamova, Teodora; Guergueltcheva, Velina; Chan, Sophelia; Korngut, Lawrence; Campbell, Craig; Dai, Yi; ... (2017). Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database. Journal of neuromuscular diseases, 4(4), pp. 293-306. IOS Press 10.3233/JND-170280
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; ... (2015). The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations. Human mutation, 36(4), pp. 395-402. Wiley-Blackwell 10.1002/humu.22758
Brockington, Martin; Yuva, Yeliz; Prandini, Paola; Brown, Susan C.; Torelli, Silvia; Benson, Matthew A.; Herrmann, Ralf; Anderson, Louise V.B.; Bashir, Rumaisa; Burgunder, Jean-Marc; Fallet, Shari; Romero, Norma; Fardeau, Michel; Straub, Volker; Storey, Gillian; Pollitt, Christine; Richard, Isabelle; Sewry, Caroline A.; Bushby, Kate; Voit, Thomas; ... (2001). Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Human molecular genetics, 10(25), pp. 2851-2859. Oxford University Press 10.1093/hmg/10.25.2851
