RT Journal Article SR Electronic T1 AP4S1 splice-site mutation in a case of spastic paraplegia type 52 with polymicrogyria JF Neurology Genetics JO Neurol Genet FD Lippincott Williams & Wilkins SP e273 DO 10.1212/NXG.0000000000000273 VO 4 IS 5 A1 Susana Carmona A1 Clara Marecos A1 Marta Amorim A1 Ana C. Ferreira A1 Carla Conceição A1 José Brás A1 Sofia T. Duarte A1 Rita Guerreiro YR 2018 UL http://ng.neurology.org/content/4/5/e273.abstract AB