DEFECTIVE BIOSYNTHESIS OF PROTEOLIPID PROTEIN IN PELIZAEUS-MERZBACHER DISEASE

被引:79
|
作者
KOEPPEN, AH [1 ]
RONCA, NA [1 ]
GREENFIELD, EA [1 ]
HANS, MB [1 ]
机构
[1] UNION UNIV ALBANY MED COLL,DEPT NEUROL,ALBANY,NY 12208
关键词
D O I
10.1002/ana.410210208
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:159 / 170
页数:12
相关论文
共 50 条
  • [41] A new missense mutation in exon 6 of the proteolipid protein gene in a patient with Pelizaeus-Merzbacher disease
    Kawanishi, C
    Osaka, H
    Owa, K
    Inoue, K
    Miyakawa, T
    Onishi, H
    Yamada, Y
    Suzuki, K
    Kimura, S
    Kosaka, K
    HUMAN MUTATION, 1997, 9 (05) : 475 - 476
  • [42] GENETICS OF PELIZAEUS-MERZBACHER DISEASE
    HODES, ME
    PRATT, VM
    DLOUHY, SR
    DEVELOPMENTAL NEUROSCIENCE, 1993, 15 (06) : 383 - 394
  • [43] Pelizaeus-Merzbacher disease in siblings
    Mittal, Amit
    Maini, Baljeet
    Sharma, P. D.
    Aggarwal, Amit
    JOURNAL OF PEDIATRIC NEUROSCIENCES, 2010, 5 (02) : 167 - +
  • [44] DEMYELINATION IN PELIZAEUS-MERZBACHER DISEASE
    LOTT, IT
    PARKER, SW
    HERNDON, RM
    MOSER, HW
    PEDIATRIC RESEARCH, 1981, 15 (04) : 708 - 708
  • [45] Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: Molecular mechanism and phenotypic manifestations
    Inoue, K
    Osaka, H
    Imaizumi, K
    Nezu, A
    Takanashi, J
    Arii, J
    Murayama, K
    Ono, J
    Kikawa, Y
    Mito, T
    Shaffer, LG
    Lupski, JR
    ANNALS OF NEUROLOGY, 1999, 45 (05) : 624 - 632
  • [46] NEW VARIANT IN EXON 3 OF THE PROTEOLIPID PROTEIN (PLP) GENE IN A FAMILY WITH PELIZAEUS-MERZBACHER DISEASE
    PRATT, VM
    TROFATTER, JA
    LARSEN, MB
    HODES, ME
    DLOUHY, SR
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1992, 43 (03): : 642 - 646
  • [47] Connatal Pelizaeus-Merzbacher disease: A missense mutation in exon 4 of the proteolipid protein (PLP) gene
    M. Nagao
    Jun-ichi Kadowaki
    Journal of Human Genetics, 1998, 43 : 206 - 208
  • [48] The issue of the Pelizaeus-Merzbacher disease
    Bodechtel, G
    ZEITSCHRIFT FUR DIE GESAMTE NEUROLOGIE UND PSYCHIATRIE, 1929, 121 : 487 - 507
  • [49] CONNATAL PELIZAEUS-MERZBACHER DISEASE
    HAENGGELI, CA
    ENGEL, E
    PIZZOLATO, GP
    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 1989, 31 (06): : 803 - 807
  • [50] Pelizaeus-Merzbacher disease: pathogenic mechanisms and insights into the roles of proteolipid protein 1 in the nervous system
    Garbern, JY
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2005, 228 (02) : 201 - 203