Axonal Charcot-Marie-tooth disease - The fog is slowly lifting

被引：12
作者：
Reilly, MM
机构：
[1] UCL Natl Hosp Neurol & Neurosurg, Inst Neurol, Ctr Neuromuscular Dis, London WC1N 3BG, England
[2] UCL Natl Hosp Neurol & Neurosurg, Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England
来源：
NEUROLOGY | 2005年 / 65卷 / 02期
关键词：
D O I：
10.1212/01.wnl.0000173904.97549.94
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：186 / 187
页数：2
相关论文
共 7 条
  • [1] Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V
    Antonellis, A
    Ellsworth, RE
    Sambuughin, N
    Puls, I
    Abel, A
    Lee-Lin, SQ
    Jordanova, A
    Kremensky, I
    Christodoulou, K
    Middleton, LT
    Sivakumar, K
    Ionasescu, V
    Funalot, B
    Vance, JM
    Goldfarb, LG
    Fischbeck, KH
    Green, ED
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 72 (05) : 1293 - 1299
  • [2] Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A
    Kijima, K
    Numakura, C
    Izumino, H
    Umetsu, K
    Nezu, A
    Shiiki, T
    Ogawa, M
    Ishizaki, Y
    Kitamura, T
    Shozawa, Y
    Hayasaka, K
    [J]. HUMAN GENETICS, 2005, 116 (1-2) : 23 - 27
  • [3] The gene for HMSN2C maps to 12q23-24 - A region of neuromuscular disorders
    Klein, CJ
    Cunningham, JM
    Atkinson, EJ
    Schaid, DJ
    Hebbring, SJ
    Anderson, SA
    Klein, DM
    Dyck, PJB
    Litchy, WJ
    Thibodeau, SN
    [J]. NEUROLOGY, 2003, 60 (07) : 1151 - 1156
  • [4] Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene
    Lawson, VH
    Graham, BV
    Flanigan, KM
    [J]. NEUROLOGY, 2005, 65 (02) : 197 - 204
  • [5] Nelis E, 1996, EUR J HUM GENET, V4, P25
  • [6] Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy
    Verhoeven, K
    De Jonghe, P
    Coen, K
    Verpoorten, N
    Auer-Grumbach, M
    Kwon, JM
    FitzPatrick, D
    Schmedding, E
    De Vriendt, E
    Jacobs, A
    Van Gerwen, V
    Wagner, K
    Hartung, HP
    Timmerman, V
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 72 (03) : 722 - 727
  • [7] Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A
    Züchner, S
    Mersiyanova, IV
    Muglia, M
    Bissar-Tadmouri, N
    Rochelle, J
    Dadali, EL
    Zappia, M
    Nelis, E
    Patitucci, A
    Senderek, J
    Parman, Y
    Evgrafov, O
    De Jonghe, P
    Takahashi, Y
    Tsuji, S
    Pericak-Vance, MA
    Quattrone, A
    Battologlu, E
    Polyakov, AV
    Timmerman, V
    Schröder, JM
    Vance, JM
    [J]. NATURE GENETICS, 2004, 36 (05) : 449 - 451
1