Spastic paraplegia type 4: A novel SPAST splice site donor mutation and expansion of the phenotype variability

Spastic paraplegia type 4: A novel SPAST splice site donor mutation and expansion of the phenotype variability

Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of the Neurological Sciences - Volume 380, 15 September 2017, Pages 92-97

Toshitaka Kawarai, Celeste Montecchiani, Ryosuke Miyamoto, Fabrizio Gaudiello, Carlo Caltagirone, Yuishin Izumi, Ryuji Kaji, Antonio Orlacchio,