A novel mutation in the GFAP gene in a familial adult onset Alexander disease [1]

Journal of Neurology

Volumn 254, Issue 9, 2007, Pages 1278-1280

  Salmaggi, Andrea ^a   Botturi, Andrea ^a   Lamperti, Elena ^a   Grisoli, Marina ^a   Fischetto, Rita ^b   Ceccherini, Isabella ^c   Caroli, Francesco ^c   Boiardi, Amerigo ^a  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

^b Ospedale Giovanni XXIII   (Italy)

^c G GASLINI INSTITUTE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

GLIAL FIBRILLARY ACIDIC PROTEIN;

ADULT; ALEXANDER DISEASE; ATAXIA; BABINSKI REFLEX; CASE REPORT; CEREBROSPINAL FLUID ANALYSIS; DISEASE COURSE; DNA DETERMINATION; DYSARTHRIA; DYSPHAGIA; ELECTROENCEPHALOGRAM; ELECTROMYOGRAM; ELECTRONYSTAGMOGRAPHY; ENZYME ACTIVITY; FEMALE; FOLLOW UP; GENE MUTATION; HUMAN; HYPERREFLEXIA; LETTER; MEDICAL ASSESSMENT; MENTAL DEFICIENCY; MULTIPLE SCLEROSIS; NEUROLOGIC DISEASE; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; QUADRIPLEGIA; SPASTIC PARAPLEGIA; TENDON REFLEX; TONIC CLONIC SEIZURE;

ADULT; ALEXANDER DISEASE; ATAXIA; CHILD; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; ELECTROENCEPHALOGRAPHY; FEMALE; GLIAL FIBRILLARY ACIDIC PROTEIN; HUMANS; ITALY; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; PEDIGREE; RARE DISEASES; SEIZURES;

EID: 36148941724     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-006-0361-2     Document Type: Letter

References (10)

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