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Kirschner, Janbernd; Bernert, Günther; Butoianu, Nina; De Waele, Liesbeth; Fattal-Valevski, Aviva; Haberlova, Jana; Moreno, Teresa; Klein, Andrea; Kostera-Pruszczyk, Anna; Mercuri, Eugenio; Quijano-Roy, Susana; Sejersen, Thomas; Tizzano, Eduardo F; van der Pol, W Ludo; Wallace, Sean; Zafeiriou, Dimitrios; Ziegler, Andreas; Muntoni, Francesco; Servais, Laurent (2024). 2024 update: European consensus statement on gene therapy for spinal muscular atrophy. European journal of paediatric neurology, 51, pp. 73-78. Elsevier 10.1016/j.ejpn.2024.06.001
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
