A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum

Journal of the Neurological Sciences

Volumn 305, Issue 1-2, 2011, Pages 67-70

  Blumkin, Lubov ^a,b   Lerman Sagie, Tally ^a,b   Lev, Dorit ^a,b   Yosovich, Keren ^a,b   Leshinsky Silver, Esther ^a,b  

^a WOLFSON MEDICAL CENTER   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

Author keywords

Hereditary spastic paraplegia; Locus; Thin corpus callosum; White matter

Indexed keywords

NEUROTRANSMITTER; VALPROIC ACID;

AGAR GEL ELECTROPHORESIS; ARTICLE; ASIA; BLADDER DYSFUNCTION; BRAIN VENTRICLE DILATATION; CASE REPORT; CEREBROSPINAL FLUID; CHROMOSOME 1P; COGNITIVE DEFECT; COMPREHENSION; COMPUTER ASSISTED TOMOGRAPHY; CONVERGENT STRABISMUS; CORPUS CALLOSUM; ELECTROENCEPHALOGRAPHY; EPILEPTIC DISCHARGE; FEMALE; FOCAL EPILEPSY; GENE LOCUS; GENE MAPPING; HEAD CIRCUMFERENCE; HOMOZYGOSITY; HUMAN; HYPERSALIVATION; JAW OPENING REFLEX; LIMB WEAKNESS; MALE; MENTAL DEFICIENCY; MICROSATELLITE MARKER; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT; SINGLE NUCLEOTIDE POLYMORPHISM; SPASTIC PARAPLEGIA; TENDON REFLEX; VAGINAL DELIVERY; WALKING AID; WHITE MATTER;

ARABS; CHILD, PRESCHOOL; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 1; CORPUS CALLOSUM; FEMALE; GENETIC HETEROGENEITY; GENETIC LOCI; HUMANS; MALE; MUTATION; PROTEINS; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 79955703942     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2011.03.011     Document Type: Article

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