TY  - GEN
AU  - Samaranch,L
AU  - Riverol,M
AU  - Masdeu,J C
AU  - Lorenzo,E
AU  - Vidal-Taboada,J M
AU  - Irigoyen,J
AU  - Pastor,M A
AU  - de Castro,P
AU  - Pastor,P
TI  - SPG11 compound mutations in spastic paraparesis with thin corpus callosum
SN  - 1526-632X
PY  - 2008///0826
KW  - Adult
KW  - Agenesis of Corpus Callosum
KW  - Child
KW  - Chromosome Disorders
KW  - genetics
KW  - Chromosomes, Human, Pair 15
KW  - Corpus Callosum
KW  - diagnostic imaging
KW  - DNA Mutational Analysis
KW  - Energy Metabolism
KW  - Frontal Lobe
KW  - Gene Frequency
KW  - Genes, Recessive
KW  - Genetic Markers
KW  - Genetic Predisposition to Disease
KW  - Genetic Testing
KW  - Genotype
KW  - Humans
KW  - Intellectual Disability
KW  - complications
KW  - Mutation
KW  - Nervous System Malformations
KW  - Paraparesis, Spastic
KW  - Proteins
KW  - Radionuclide Imaging
KW  - Spain
KW  - Syndrome
KW  - Thalamus
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1212/01.wnl.0000319646.23052.d1
ER  -