Late onset MLD with normal nerve conduction associated with two novel missense mutations in the ASA gene

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 75, Issue 4, 2004, Pages 655-657

  Gallo, S ^a   Randi, D ^a   Bertelli, M ^a   Salviati, Al ^b   Pandolfo, M ^c  

^a BIRD Europe Institute   (Italy)

^b UNIVERSITY OF VERONA   (Italy)

^c ERASME HOSPITAL   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ADULT; ARTICLE; CASE REPORT; DNA SEQUENCE; ENZYME DEFICIENCY; GENE MUTATION; HUMAN; MALE; METACHROMATIC LEUKODYSTROPHY; MISSENSE MUTATION; NERVE CONDUCTION; NUCLEAR MAGNETIC RESONANCE IMAGING; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ALLELES; CEREBRAL VENTRICLES; CEREBROSIDE-SULFATASE; CORPUS CALLOSUM; DEMENTIA; DISEASE PROGRESSION; DOMINANCE, CEREBRAL; EXONS; FOLLOW-UP STUDIES; FRONTAL LOBE; HETEROZYGOTE DETECTION; HUMANS; IMAGE ENHANCEMENT; LEUKODYSTROPHY, METACHROMATIC; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUTATION, MISSENSE; NEUROLOGIC EXAMINATION; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; SYNAPTIC TRANSMISSION;

EID: 1642523690     PISSN: 00223050     EISSN: None     Source Type: Journal    
DOI: 10.1136/jnnp.2003.017400     Document Type: Article

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