Adult-onset leukoencephalopathy with vanishing white matter with a missense mutation in EIF2B5

Neurology

Volumn 62, Issue 9, 2004, Pages 1601-1603

  Ohtake, H ^a   Shimohata, T ^a   Terajima, K ^a   Kimura, T ^a   Jo, R ^a   Kaseda, R ^a   Iizuka, O ^a   Takano, M ^a   Akaiwa, Y ^a   Goto, H ^c   Kobayashi, H ^a   Sugai, T ^b   Muratake, T ^b   Hosoki, T ^b   Shioiri, T ^b   Okamoto, K ^a   Onodera, O ^a   Tanaka, K ^a   Someya, T ^b   Nakada, T ^a   Tsuji, S ^d,e   more..

^a NIIGATA UNIVERSITY   (Japan)

^b NIIGATA UNIVERSITY   (Japan)

^c Nagasaki Kawatana Medical Center   (Japan)

^d UNIVERSITY OF TOKYO   (Japan)

^e UNIVERSITY OF TOKYO   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

EUKARYOTIC INITIATION FACTOR 2B5; GUANINE NUCLEOTIDE EXCHANGE FACTOR; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CONFABULATION; CONSANGUINEOUS MARRIAGE; DELUSION; DEMENTIA; FEMALE; GENE MUTATION; HOMOZYGOSITY; HUMAN; LEUKOENCEPHALOPATHY; MENTAL INSTABILITY; MISSENSE MUTATION; PRIORITY JOURNAL; SPASTICITY; VANISHING WHITE MATTER;

EID: 2342547021     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000123117.11264.0E     Document Type: Article

References (9)

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