Novel SPG11 mutations in Chinese families with hereditary spastic paraplegia with thin corpus callosum

Parkinsonism and Related Disorders

Volumn 19, Issue 3, 2013, Pages 367-370

  Cao, Li ^a   Rong, Tian Yi ^a   Huang, Xiao Jun ^a   Fang, Rong ^a   Wu, Zhi Yuan ^a   Tang, Hui Dong ^a   Chen, Sheng Di ^a  

^a SHANGHAI SECOND MEDICAL UNIVERSITY   (China)

Author keywords

Diffusion tensor imaging; Hereditary spastic paraplegia; Neuropsychological assessment; SPG11; Thin corpus callosum

Indexed keywords

ARGININE; CYTOSINE; GENOMIC DNA; GLUTAMINE; SERINE; THYMINE;

ADULT; ALLELE; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BRAIN MAPPING; CASE REPORT; CHINESE; CLINICAL EXAMINATION; COGNITIVE DEFECT; CONTROLLED STUDY; CORPUS CALLOSUM; DIFFUSION TENSOR IMAGING; DISEASE SEVERITY; DNA SEQUENCE; DYSARTHRIA; FEMALE; FRACTIONAL ANISOTROPY; FRONTAL CORTEX; GENE; GENE DELETION; GENE MUTATION; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; LEARNING DISORDER; MALE; MEMORY DISORDER; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PSYCHOLOGIC ASSESSMENT; SEQUENCE ANALYSIS; SLURRED SPEECH; SPASTIC PARAPLEGIA; SPG11 GENE; TEMPORAL CORTEX; UNSTEADINESS; URINARY URGENCY; WEAKNESS; WHITE MATTER;

ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CORPUS CALLOSUM; DIFFUSION TENSOR IMAGING; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MUTATION; NEUROPSYCHOLOGICAL TESTS; PROTEINS; SPASTIC PARAPLEGIA, HEREDITARY; YOUNG ADULT;

EID: 84874258027     PISSN: 13538020     EISSN: 18735126     Source Type: Journal    
DOI: 10.1016/j.parkreldis.2012.10.007     Document Type: Article

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