PMP22 immunoreactivity on biopsied sural nerves in Charcot-Marie-Tooth disease 1A and hereditary neuropathy with liability to pressure palsies

被引：0
|
作者：
Vallat, JM
Sindou, P
Preux, PM
Tabaraud, F
Couratier, P
Milor, AM
Brice, A
LeGuern, E
机构：
来源：
NEUROLOGY | 1996年 / 46卷 / 02期
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：35004 / 35004
页数：1
相关论文
共 50 条
  • [41] Ultrastructural quantification of PO immunoreactivity on biopsied sural nerves from patients with Charcot-Marie-Tooth disease type 1B
    Vallat, JM
    Sindou, P
    Chapan, F
    Archelos, JJ
    Tabaraud, F
    Braund, KG
    Maisonobe, T
    Haun, JJ
    Vandenberghe, A
    ANNALS OF NEUROLOGY, 1997, 42 (03) : M96 - M96
  • [42] Recombination hot spot in a 3.2-kb region of the Charcot-Marie-Tooth type 1A repeat sequences: New tools for molecular diagnosis of hereditary neuropathy with liability to pressure palsies and of Charcot-Marie-Tooth type 1A
    Lopes, J
    LeGuern, E
    Gouider, R
    Tardieu, S
    Abbas, N
    Birouk, N
    Gugenheim, M
    Bouche, P
    Agid, Y
    Brice, A
    ArneBes, MC
    Brichet, B
    Chapon, F
    Chazot, G
    Clavelou, P
    Desnuelle, C
    Diraison, P
    Dubas, F
    Gonnaud, PM
    Hurtevent, JF
    Kuntzer, T
    Lagueny, A
    Mabin, D
    Mayer, M
    Ochsner, F
    OllagnonRoman, E
    Pouget, J
    Tabaraud, F
    Vallat, JM
    Vandenberghe, A
    AMERICAN JOURNAL OF HUMAN GENETICS, 1996, 58 (06) : 1223 - 1230
  • [43] DUPLICATION OF THE PMP22 GENE IN 17P PARTIAL TRISOMY PATIENTS WITH CHARCOT-MARIE-TOOTH TYPE 1A NEUROPATHY
    ROA, BB
    GREENBERG, F
    GUNARATNE, P
    SAUER, CM
    LUBINSKY, MS
    KOZMA, C
    MECK, JM
    MAGENIS, RE
    SHAFFER, LG
    LUPSKI, JR
    AMERICAN JOURNAL OF HUMAN GENETICS, 1995, 57 (04) : 171 - 171
  • [44] DUPLICATIONS AND DELETIONS IN CHARCOT-MARIE-TOOTH (CMT) DISEASE AND HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES (HNPP) - A REFINED MUTATION MODEL
    VANDENBERGHE, A
    DUTHEL, S
    BOST, M
    BONNEBOUCHE, C
    BOUCHERAT, M
    CHAZOT, G
    LATOUR, P
    AMERICAN JOURNAL OF HUMAN GENETICS, 1995, 57 (04) : 1335 - 1335
  • [45] Severe phenotypes in a Charcot–Marie–Tooth 1A patient with PMP22 triplication
    Sung Min Kim
    Jinho Lee
    Bo Ram Yoon
    Ye Jin Kim
    Byung-Ok Choi
    Ki Wha Chung
    Journal of Human Genetics, 2015, 60 : 103 - 106
  • [46] Left ventricular hypertrabeculation/noncompaction with PMP22 duplication-based Charcot-Marie-Tooth disease type 1A
    Corrado, Giovanni
    Checcarelli, Nicoletta
    Santarone, Mauro
    Stoellberger, Claudia
    Finsterer, Josef
    CARDIOLOGY, 2006, 105 (03) : 142 - 145
  • [47] CRISPR/Cas9-mediated downregulation of PMP22 ameliorates Charcot-Marie-Tooth disease 1A in mice
    Lee, J. Y.
    Song, D. W.
    Lee, J.
    Bae, H.
    Yu, H. S.
    Lee, K. J.
    Kim, H. K.
    Hwang, H.
    Kwak, G.
    Kim, D.
    Kim, S.
    Hong, Y. B.
    Lee, J. M.
    Choi, B.
    HUMAN GENE THERAPY, 2018, 29 (12) : A26 - A26
  • [48] PATTERNS OF SONOGRAPHIC NERVE ENLARGEMENT IN CHARCOT-MARIE-TOOTH AND HEREDITARY NEUROPATHY WITH PRESSURE PALSIES
    Goedee, S. H.
    Brekelmans, G. J. F.
    Visser, L. H.
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2013, 18 : 41 - 42
  • [49] Accumulation of peripheral myelin protein 22 (PMP22) in onion bulbs of nerves biopsied from patients with different subtypes of Charcot-Marie-Tooth disease type 1 - Reply
    Nishimura, T
    Yoshikawa, H
    Fujimura, H
    Sakoda, S
    Yanagihara, T
    ACTA NEUROPATHOLOGICA, 1997, 94 (05) : 516 - 516
  • [50] Impairment of PMP22 transgenic Schwann cells differentiation in culture: implications for Charcot-Marie-Tooth type 1A disease
    Nobbio, L
    Vigo, T
    Abbruzzese, M
    Levi, G
    Brancolini, C
    Mantero, S
    Grandis, M
    Benedetti, L
    Mancardi, G
    Schenone, A
    NEUROBIOLOGY OF DISEASE, 2004, 16 (01) : 263 - 273
12345