CHARCOT-MARIE-TOOTH DISEASE: A CASE REPORT WITH A NEW TRUNCATING MUTATION IN MPZ GENE

被引：0
|
作者：
Piazza, S. [1 ]
Ricci, G. [1 ]
Baldinotti, F. [2 ]
Fogli, A. [2 ]
Molesti, E. [1 ]
Conidi, M. E. [2 ]
Michelacci, A. [2 ]
Migliore, L. [3 ]
Simi, P. [2 ]
Siciliano, G. [1 ]
机构：
[1] Dept Neurosci, Pisa, Italy
[2] Maternal & Childhood Dept, Pisa, Italy
[3] Dept Human & Environm Sci, Pisa, Italy
来源：
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM | 2009年 / 14卷
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：23 / 23
页数：1
相关论文
共 50 条
  • [21] Homomeric interactions of the MPZ Ig domain and their relation to Charcot-Marie-Tooth disease
    Ptak, Christopher P.
    Peterson, Tabitha A.
    Hopkins, Jesse B.
    Ahern, Christopher A.
    Shy, Michael E.
    Piper, Robert C.
    [J]. BRAIN, 2023, 146 (12) : 5110 - 5123
  • [22] Atypical presentation of Charcot-Marie-Tooth disease type 1C with a new mutation: a case report
    Koprusakova, Monika Turcanova
    Grofik, Milan
    Kantorova, Ema
    Jungova, Petra
    Chandoga, Jan
    Kolisek, Martin
    Valkovic, Peter
    Skorvanek, Matej
    Ploski, Rafal
    Kurca, Egon
    Sivak, Stefan
    [J]. BMC NEUROLOGY, 2021, 21 (01)
  • [23] Charcot-Marie-Tooth disease
    Gregory T. Carter
    Michael D. Weiss
    Jay J. Han
    Phillip F. Chance
    John D. England
    [J]. Current Treatment Options in Neurology, 2008, 10 : 94 - 102
  • [24] Charcot-Marie-Tooth disease
    Szigeti, Kinga
    Lupski, James R.
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2009, 17 (06) : 703 - 710
  • [25] CHARCOT-MARIE-TOOTH DISEASE
    MARTEL, J
    MIERAU, D
    DONAT, J
    [J]. JOURNAL OF MANIPULATIVE AND PHYSIOLOGICAL THERAPEUTICS, 1995, 18 (03) : 168 - 171
  • [26] Charcot-Marie-Tooth disease
    Birouk, Nazha
    [J]. PRESSE MEDICALE, 2009, 38 (02): : 200 - 209
  • [27] CHARCOT-MARIE-TOOTH DISEASE
    BRODY, IA
    WILKINS, RH
    [J]. ARCHIVES OF NEUROLOGY, 1967, 17 (05) : 552 - &
  • [28] Charcot-Marie-Tooth disease
    Carter, Gregory T.
    Weiss, Michael D.
    Han, Jay J.
    Chance, Phillip F.
    England, John D.
    [J]. CURRENT TREATMENT OPTIONS IN NEUROLOGY, 2008, 10 (02) : 94 - 102
  • [29] Charcot-Marie-Tooth disease
    Maria Carolina, Duarte-Martinez
    Carlos Andres, Penaherrera-Oviedo
    [J]. REVISTA MEXICANA DE NEUROCIENCIA, 2015, 16 (06): : 54 - 62
  • [30] CHARCOT-MARIE-TOOTH DISEASE
    BERCIANO, J
    CALLEJA, J
    COMBARROS, O
    [J]. NEUROLOGY, 1994, 44 (10) : 1985 - 1985
12345