TY  - GEN
AU  - Gregianin,E
AU  - Vazza,G
AU  - Scaramel,E
AU  - Boaretto,F
AU  - Vettori,A
AU  - Leonardi,E
AU  - Tosatto,S C E
AU  - Manara,R
AU  - Pegoraro,E
AU  - Mostacciuolo,M L
TI  - A novel SACS mutation results in non-ataxic spastic paraplegia and peripheral neuropathy
SN  - 1468-1331
PY  - 2015///1022
KW  - Adult
KW  - Consanguinity
KW  - Heat-Shock Proteins
KW  - genetics
KW  - Homozygote
KW  - Humans
KW  - Italy
KW  - Male
KW  - Middle Aged
KW  - Muscle Spasticity
KW  - Mutation, Missense
KW  - Paraplegia
KW  - Pedigree
KW  - Peripheral Nervous System Diseases
KW  - Phenotype
KW  - Spinocerebellar Ataxias
KW  - congenital
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1111/ene.12220
ER  -