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Walter, Maggie C; Laforêt, Pascal; van der Pol, W Ludo; Pegoraro, Elena (2023). 254th ENMC international workshop. Formation of a European network to initiate a European data collection, along with development and sharing of treatment guidelines for adult SMA patients. Virtual meeting 28 - 30 January 2022. Neuromuscular disorders, 33(6), pp. 511-522. Elsevier 10.1016/j.nmd.2023.03.011
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
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
