| 1 | AP4E1, SPG51 |
| A Novel Homozygous p.R1105X Mutation of the AP4E1 Gene in Twins with Hereditary Spastic Paraplegia and Mycobacterial Disease. | |
| Kong XF, Bousfiha A, Rouissi A, Itan Y, Abhyankar A, Bryant V, Okada S, Ailal F, Bustamante J, Casanova JL, Hirst J, Boisson-Dupuis S. | |
| PLoS One. 8(3):e58286. 2013 | |
| 2 | AHDS, SPART, SPG1, SPG10, SPG11, SPG12, SPG13, SPG14, SPG15, SPG16, SPG17, SPG19, SPG2, SPG21, SPG23, SPG24, SPG25, SPG26, SPG27, SPG28, SPG29, SPG30, SPG31, SPG32, SPG33, SPG35, SPG36, SPG37, SPG38, SPG39, SPG41, SPG41, SPG42, SPG43, SPG44, SPG45, SPG46, SPG47, SPG48, SPG49, SPG50, SPG51, SPG52, SPG53, SPG54, SPG55, SPG56 |
| Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. | |
| Fink JK. | |
| Acta Neuropathol 126(3):307-28. doi: 10.1007/s00401-013-1115-8. Epub 2013 Jul 30. 2013 | |