Infantile neuroaxonal dystrophy: What's most important for the diagnosis?

European Journal of Paediatric Neurology

Volumn 12, Issue 6, 2008, Pages 491-500

  Carrilho, Inês ^a   Santos, Manuela ^a   Guimarães, António ^b   Teixeira, João ^b   Chorão, Rui ^a   Martins, Márcia ^c   Dias, Cristina ^c   Gregory, Allison ^d   Westaway, Shawn ^d   Nguyen, Thuy ^d   Hayflick, Susan ^d   Barbot, Clara ^a  

^a HOSPITAL MARIA PIA   (Portugal)

^b HOSPITAL DE SANTO ANTÓNIO   (Portugal)

^c NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

^d OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

Cerebellar atrophy; EEG fast rhythms; Infantile neuroaxonal dystrophy; PLA2G6 gene

Indexed keywords

PHOSPHOLIPASE A2; PHOSPHOLIPASE A2 G6; UNCLASSIFIED DRUG;

ARTICLE; BRAIN ATROPHY; CEREBELLUM ATROPHY; CEREBELLUM CORTEX; CEREBELLUM VERMIS; CLINICAL ARTICLE; COMPUTER ASSISTED TOMOGRAPHY; DEMENTIA; DEVELOPMENTAL DISORDER; DIFFUSION WEIGHTED IMAGING; DNA DETERMINATION; ELECTROENCEPHALOGRAPHY; ELECTROMYOGRAM; FEMALE; GENE; GENE IDENTIFICATION; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; INFANT; MALE; MEDICAL RECORD REVIEW; MENTAL DETERIORATION; MOTOR DYSFUNCTION; MUSCLE HYPOTONIA; NERVE FIBER; NEUROAXONAL DYSTROPHY; NEUROIMAGING; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; OPTIC NERVE ATROPHY; PLA2G6 GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; PYRAMIDAL SIGN; QUADRIPLEGIA; RETROSPECTIVE STUDY; SEIZURE; SENSORIMOTOR FUNCTION; SKIN BIOPSY; VISUAL DISORDER; WALKING;

ADOLESCENT; ADULT; ATROPHY; BRAIN; CEREBELLAR CORTEX; CEREBELLUM; DNA; DNA MUTATIONAL ANALYSIS; ELECTROENCEPHALOGRAPHY; ELECTROMYOGRAPHY; FEMALE; GROUP VI PHOSPHOLIPASES A2; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; NEUROAXONAL DYSTROPHIES; TOMOGRAPHY, X-RAY COMPUTED; YOUNG ADULT;

EID: 53049095219     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2008.01.005     Document Type: Article

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