IMPLEMENTING A NEXT-GENERATION-SEQUENCING (NGS) PANEL FOR CHARCOT-MARIE-TOOTH DISEASE TYPE 2 (CMT2)

被引：0
|
作者：
Ferrarini, M. [1 ]
Testi, S. [1 ]
Taioli, F. [1 ]
Cabrini, I [1 ]
Fabrizi, G. M. [1 ]
机构：
[1] Univ Verona, Dept Neurol & Movement Sci, Univ Hosp GB Rossi, I-37100 Verona, Italy
来源：
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM | 2015年 / 20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：S11 / S11
页数：1
相关论文
共 50 条
  • [21] Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease
    Cortese, Andrea
    Wilcox, Janel E.
    Polke, James M.
    Poh, Roy
    Skorupinska, Mariola
    Rossor, Alexander M.
    Laura, Matilde
    Tomaselli, Pedro J.
    Houlden, Henry
    Shy, Michael E.
    Reilly, Mary M.
    NEUROLOGY, 2020, 94 (01) : E51 - E61
  • [22] CHARCOT-MARIE-TOOTH TYPE I DISEASE (CMT-1)
    Adoukonou, Thierry Armel
    Vallat, Jean-Michel
    Mathis, Stephane
    AFRICAN JOURNAL OF NEUROLOGICAL SCIENCES, 2015, 34 (01): : 72 - 84
  • [23] NEPHROPATHY ASSOCIATED WITH CHARCOT-MARIE-TOOTH (CMT) DISEASE
    GUILLOT, M
    GUBLER, MC
    AICARDI, J
    BROYER, M
    LANDTHALER, G
    PARAIN, D
    INTERNATIONAL JOURNAL OF PEDIATRIC NEPHROLOGY, 1985, 6 (03): : 232 - 232
  • [24] Electrophysiological trends in Charcot-Marie-Tooth disease type 2
    Jerath, Nivedita
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2018, 23 (04) : 252 - 252
  • [25] Charcot-Marie-Tooth Disease Type 2B
    Durdu, Senay
    Koc, Kadriye
    Balaban, Deniz
    Karaoglu, Aynur
    TURKDERM-TURKISH ARCHIVES OF DERMATOLOGY AND VENEROLOGY, 2009, 43 (02): : 65 - 67
  • [26] Mutation analysis of the CMT2A locus in Charcot-Marie-Tooth type 2 cases
    Züchner, S
    Mersiyanova, IV
    Senderek, J
    Polyakov, AV
    Dadali, EL
    Bergmann, C
    Schröder, JM
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2002, 199 : S64 - S64
  • [27] Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform
    Vaeth, Signe
    Christensen, Rikke
    Duno, Morten
    Lildballe, Dorte Launholt
    Thorsen, Kasper
    Vissing, John
    Svenstrup, Kirsten
    Hertz, Jens Michael
    Andersen, Henning
    Jensen, Uffe Birk
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2019, 62 (01) : 1 - 8
  • [28] Charcot-Marie-Tooth Disease Complicating Type 2 Diabetes
    Win, Htet Htet Ne
    Davenport, Colin
    Delaney, Siobhan
    Kelly, Margaret
    Smith, Diarmuid
    JOURNAL OF THE AMERICAN PODIATRIC MEDICAL ASSOCIATION, 2011, 101 (04) : 349 - 352
  • [29] Disease course of Charcot-Marie-Tooth disease type 2 and comorbidity
    Gemignani, F
    Marbini, A
    ARCHIVES OF NEUROLOGY, 2004, 61 (09) : 1470 - 1470
  • [30] Murine therapeutic models for Charcot-Marie-Tooth (CMT) disease
    Fledrich, Robert
    Stassart, Ruth M.
    Sereda, Michael W.
    BRITISH MEDICAL BULLETIN, 2012, 102 (01) : 89 - 113
12345