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
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
  • [31] Gait Patterns in Pediatric Charcot-Marie-Tooth Disease (CMT)
    Acsadi, Gyula
    Ounpuu, Sylvia
    NEUROLOGY, 2013, 80
  • [32] Dynamin 2 in Charcot-Marie-Tooth Disease
    Tanabe, Kenji
    Takei, Kohji
    ACTA MEDICA OKAYAMA, 2012, 66 (03) : 183 - 190
  • [33] Gait Patterns in Pediatric Charcot-Marie-Tooth Disease (CMT)
    Acsadi, Gyula
    Ounpuu, Sylvia
    NEUROLOGY, 2013, 80
  • [34] Rapid and efficient generation of neurons from Charcot-Marie-Tooth disease (CMT2A) patient IPSCS
    De La Cruz-Sevilla, Josue
    Zhou, Yueqin
    Bell, Shaughn
    Baloh, Robert
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2021, 26 (01) : 135 - 135
  • [35] NEXT GENERATION SEQUENCING BY ION TORRENT PLATFORM: OUR EXPERIENCE IN MUTATIONAL ANALYSIS OF CHARCOT-MARIE-TOOTH TYPE2
    Ferrarini, M.
    Taioli, F.
    Cabrini, I
    Testi, S.
    Ferrari, S.
    Cavallaro, T.
    Fabrizi, G. M.
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2017, 22 : S18 - S18
  • [36] Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2
    McCorquodale, Donald S., III
    Montenegro, Gladys
    Peguero, Ainsley
    Carlson, Nicole
    Speziani, Fiorella
    Price, Justin
    Taylor, Sean W.
    Melanson, Michel
    Vance, Jeffery M.
    Zuechner, Stephan
    JOURNAL OF NEUROLOGY, 2011, 258 (07) : 1234 - 1239
  • [37] Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2
    Donald S. McCorquodale
    Gladys Montenegro
    Ainsley Peguero
    Nicole Carlson
    Fiorella Speziani
    Justin Price
    Sean W. Taylor
    Michel Melanson
    Jeffery M. Vance
    Stephan Züchner
    Journal of Neurology, 2011, 258 : 1234 - 1239
  • [38] Charcot-Marie-Tooth Neuropathy (CMT) Type 2A2 in Children: A Retrospective Case Series
    Beeravolu, Lakshmi R.
    Iannaccone, Susan T.
    Sparagana, Steven P.
    NEUROLOGY, 2009, 72 (11) : A295 - A295
  • [39] Case Report: Charcot-Marie-Tooth Disease Type 2 with Psychosis
    Padmanabhan, Sanjeev
    Lavanya, Sr.
    Nambi, Shanthi
    INDIAN JOURNAL OF PSYCHIATRY, 2024, 66 : S178 - S179
  • [40] Charcot-Marie-Tooth disease type 2 with restless legs syndrome
    Gemignani, F
    Marbini, A
    Di Giovanni, G
    Salih, S
    Terzano, MG
    NEUROLOGY, 1999, 52 (05) : 1064 - 1066