Efthymiou, Stephanie ;
Salpietro, Vincenzo ;
Malintan, Nancy...
Efthymiou , S , Salpietro , V , Malintan , N , Poncelet , M , Kriouile , Y , Fortuna , S , De Zorzi , R , Payne , K , Henderson , L B , Cortese , A , Maddirevula , S , Alhashmi , N , Wiethoff , S , Ryten , M , Botia , J A , Provitera , V , Schuelke , M , Vandrovcova , J , SYNAPS Study Group , Walsh , L , Torti , E , Iodice , V , Najafi , M , Karimiani , E G , Maroofian , R , Siquier-Pernet , K , Boddaert , N , De Lonlay , P , Cantagrel , V , Aguennouz , M , El Khorassani , M , Schmidts , M , Alkuraya , F S , Edvardson , S , Nolano , M , Devaux , J & Houlden , H 2019 , ' Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination ' , Brain , vol. 142 , no. 10 , pp. 2948-2964 . https://doi.org/10.1093/brain/awz248.
,
2019