TY  - GEN
AU  - Dor,Talya
AU  - Cinnamon,Yuval
AU  - Raymond,Laure
AU  - Shaag,Avraham
AU  - Bouslam,Naima
AU  - Bouhouche,Ahmed
AU  - Gaussen,Marion
AU  - Meyer,Vincent
AU  - Durr,Alexandra
AU  - Brice,Alexis
AU  - Benomar,Ali
AU  - Stevanin,Giovanni
AU  - Schuelke,Markus
AU  - Edvardson,Simon
TI  - KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction
SN  - 1468-6244
PY  - 2014///0908
KW  - Adolescent
KW  - Amino Acid Sequence
KW  - Base Sequence
KW  - Cerebellar Diseases
KW  - genetics
KW  - Child
KW  - Child, Preschool
KW  - Consanguinity
KW  - DNA Mutational Analysis
KW  - Female
KW  - Genetic Association Studies
KW  - Genetic Linkage
KW  - HEK293 Cells
KW  - Humans
KW  - Infant
KW  - Kinesins
KW  - Male
KW  - Molecular Sequence Data
KW  - Paraparesis, Spastic
KW  - Pedigree
KW  - Polymorphism, Single Nucleotide
KW  - Young Adult
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1136/jmedgenet-2013-102012
ER  -