@article{article99725c56, title = {Mutations in PTPN11 could lead to a congenital myasthenic syndrome phenotype: a Noonan syndrome case series}, author = {Pugliese, Alessia and Marina, Adela Della and Estephan, Eduardo de Paula and Zanoteli, Edmar and Roos, Andreas and Schara-Schmidt, Ulrike and Hentschel, Andreas and Azuma, Yoshiteru and Topf, Ana and Thompson, Rachel}, year = {2024}, doi = {10.1007/s00415-023-12070-w}, journal = {JOURNAL OF NEUROLOGY} }