SPG11 compound mutations in spastic paraparesis with thin corpus callosum

Neurology

Volumn 71, Issue 5, 2008, Pages 332-336

  Samaranch, L ^a   Riverol, M ^b   Masdeu, J C ^b   Lorenzo, E ^a   Vidal Taboada, J M ^a   Irigoyen, J ^a,b   Pastor, M A ^b   De Castro, P ^b   Pastor, P ^a,b  

^a UNIVERSITY OF NAVARRA   (Spain)

^b UNIVERSITY CLINIC OF NAVARRA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

FLUORODEOXYGLUCOSE F 18; PROTEIN; SPG11 PROTEIN, HUMAN;

ADOLESCENT; ADULT; ARTICLE; CHILD; CHROMOSOME SEGREGATION; CORPUS CALLOSUM; FRAMESHIFT MUTATION; FRONTAL LOBE; GENE; GENE MUTATION; GENETIC ASSOCIATION; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; POSITRON EMISSION TOMOGRAPHY; SCHOOL CHILD; SEQUENCE ANALYSIS; SPASTIC PARAPLEGIA; SPG11 GENE; THALAMUS; YOUNG ADULT; CASE REPORT; CHROMOSOME 15; CHROMOSOME DISORDER; CONGENITAL MALFORMATION; ENERGY METABOLISM; GENE FREQUENCY; GENETIC MARKER; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; GENOTYPE; MENTAL DEFICIENCY; METABOLISM; MUTATION; NERVOUS SYSTEM MALFORMATION; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; RECESSIVE GENE; SCINTISCANNING; SPAIN; SYNDROME;

ADULT; CHILD; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 15; CORPUS CALLOSUM; DNA MUTATIONAL ANALYSIS; ENERGY METABOLISM; FRONTAL LOBE; GENE FREQUENCY; GENES, RECESSIVE; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GENOTYPE; HUMANS; MENTAL RETARDATION; MUTATION; NERVOUS SYSTEM MALFORMATIONS; PARAPARESIS, SPASTIC; PROTEINS; SPAIN; SYNDROME; THALAMUS;

EID: 67649286473     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/01.wnl.0000319646.23052.d1     Document Type: Article

References (10)

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