@article{article99b41414, title = {Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy}, author = {Mendonca, Rodrigo de Holanda and Matsui Junior, Ciro and Polido, Graziela Jorge and Silva, Andre Macedo Serafim and Kulikowski, Leslie and Dias, Alexandre Torchio and Zanardo, Evelin Aline and Marques Júnior, Wilson and Tomaselli, Pedro José and Kok, Fernando and Reed, Umbertina Conti and Zanoteli, Edmar}, year = {2020}, doi = {10.1212/NXG.0000000000000505}, journal = {Neurology-genetics} }