Two novel CYP7B1 mutations in Italian families with SPG5: A clinical and genetic study

Journal of Neurology

Volumn 256, Issue 8, 2009, Pages 1252-1257

  Criscuolo, Chiara ^a   Filla, Alessandro ^a   Coppola, Giovanni ^c   Rinaldi, Carlo ^a   Carbone, Rosa ^a   Pinto, Stefano ^a   Wang, Qing ^c   De Leva, Maria Fulvia ^a   Salvatore, Elena ^a   Banfi, Sandro ^b   Brunetti, Arturo ^a   Quarantelli, Mario ^a   Geschwind, Daniel H ^c   Pappatà, Sabina ^a   De Michele, Giuseppe ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^c UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

CYP7B1; Spastic paraplegia; SPG5; White matter abnormalities

Indexed keywords

CYTOCHROME P450; CYTOCHROME P450 7B1; FLUORODEOXYGLUCOSE F 18; MESSENGER RNA; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; BRAIN METABOLISM; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CHILD; CLINICAL ASSESSMENT; CONTROLLED STUDY; DISEASE COURSE; EXON; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENETIC ANALYSIS; HEREDITARY MOTOR SENSORY NEUROPATHY; HOMOZYGOSITY; HUMAN; ITALY; LOSS OF FUNCTION MUTATION; MALE; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; POSITRON EMISSION TOMOGRAPHY; PRIORITY JOURNAL; RECESSIVE GENE; RNA DEGRADATION; SPASTIC PARAPLEGIA; STOP CODON; TENDON REFLEX; VIBRATION SENSE; WHITE MATTER;

ADULT; CEREBELLUM; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; FEMALE; FRAMESHIFT MUTATION; GENE FREQUENCY; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; GENOTYPE; HUMANS; ITALY; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUTATION; PEDIGREE; POLYMORPHISM, GENETIC; POSITRON-EMISSION TOMOGRAPHY; RNA, MESSENGER; SPASTIC PARAPLEGIA, HEREDITARY; STEROID HYDROXYLASES;

EID: 68349147777     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-009-5109-3     Document Type: Article

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