Spastic paraplegia type 31: A novel REEP1 splice site donor variant and expansion of the phenotype variability

Spastic paraplegia type 31: A novel REEP1 splice site donor variant and expansion of the phenotype variability

Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Parkinsonism & Related Disorders - Volume 46, January 2018, Pages 79-83

Masaki Kamada, Toshitaka Kawarai, Ryosuke Miyamoto, Rie Kawakita, Yuki Tojima, Celeste Montecchiani, Laura D'Onofrio, Carlo Caltagirone, Antonio Orlacchio, Ryuji Kaji,