Virtual Demyelination in pmp22 Deficiency

被引:0
|
作者
Glass, Jonathan D.
Boulis, Nicholas
Polak, Meraida
Kelly, Crystal
Federici, Thais
Bordeau, Jane
Rutkove, Seward
Johe, Karl
Hazel, Tom
Feldman, Eva
机构
关键词
D O I
暂无
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:S86 / S86
页数:1
相关论文
共 50 条
  • [31] MLPA method for PMP22 gene analysis
    Herodez, SS
    Zagradisnik, B
    Vokac, NK
    ACTA CHIMICA SLOVENICA, 2005, 52 (02) : 105 - 110
  • [32] Neuropathy in Human and Mice with PMP22 Null
    Saporta, Mario A.
    Katona, Istvan
    Zhang, Xuebao
    Roper, Helen P.
    Carr, Louise
    Macdonald, Fiona
    Brueton, Louise
    Blake, Julian
    Suter, Ueli
    Reilly, Mary M.
    Shy, Michael E.
    Li, Jun
    NEUROLOGY, 2011, 76 (09) : A455 - A455
  • [33] PMP22 overexpression causes dysmyelination in mice
    Robaglia-Schlupp, A
    Pizant, J
    Norreel, JC
    Passage, E
    Sabéran-Djoneidi, D
    Ansaldi, JL
    Vinay, L
    Figarella-Branger, D
    Lévy, N
    Clarac, F
    Cau, P
    Pellissier, JF
    Fontés, M
    BRAIN, 2002, 125 : 2213 - 2221
  • [34] PMP22 related congenital hypomyelination neuropathy
    Fabrizi, GM
    Simonati, A
    Taioli, F
    Cavallaro, T
    Ferrarini, M
    Rigatelli, F
    Pini, A
    Mostacciuolo, ML
    Rizzuto, N
    JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2001, 70 (01): : 123 - 126
  • [35] Identification of a new Pmp22 mouse mutant and trafficking analysis of a Pmp22 allelic series suggesting that protein aggregates may be protective in Pmp22-associated peripheral neuropathy
    Isaacs, AM
    Jeans, A
    Oliver, PL
    Vizor, L
    Brown, SDM
    Hunter, AJ
    Davies, KE
    MOLECULAR AND CELLULAR NEUROSCIENCE, 2002, 21 (01) : 114 - 125
  • [36] PMP22 EXPRESSION IN CMT1A NEUROPATHY
    HANEMANN, CO
    STOLL, G
    MULLER, HW
    ANNALS OF NEUROLOGY, 1995, 37 (01) : 136 - 136
  • [37] Variable phenotypes are associated with pmp22 missense mutations
    Russo, M.
    Laura, M.
    Polke, J.
    Davis, M. B.
    Blake, J.
    Bradner, S.
    Hughes, R. A.
    Houlden, H.
    Lunn, M. P.
    Reilly, M.
    JOURNAL OF NEUROLOGY, 2010, 257 : S40 - S40
  • [38] Recessive PMP22 mutations:: Quantitative and qualitative aspects
    Beckmann, A
    Schröder, JM
    ANNALS OF NEUROLOGY, 2000, 48 (01) : 131 - 132
  • [39] PROTEIN INTERACTORS OF PMP22-SHEDDING LIGHT ON THE MOLECULAR ROLE OF PMP22 IN HEALTH AND DISEASE
    Stausberg, Daniela
    Ewers, David
    Arlt, Friederike
    Nave, Klaus-Armin
    Sereda, Michael
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2022, 27 : S176 - S176
  • [40] PMP22 EXON 4 DELETION CAUSES ER RETENTION OF PMP22 AND A GAIN-OF-FUNCTION ALLELE IN CMT1E
    Wang, D.
    Wu, X.
    Bai, Y.
    Zaidman, C.
    Grider, T.
    Kamholz, J.
    Lupski, J. R.
    Connolly, A. M.
    Shy, M. E.
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2017, 22 (03) : 408 - 408