Next generation sequencing technologies in the genetic diagnosis of Congenital Myasthenic Syndrome

被引:0
|
作者
Toepf, A. [1 ]
Azuma, Y. [1 ]
Gorokhova, S. [2 ]
O'Connor, E. [1 ]
Porter, A. [1 ]
Lorenzoni, P. [3 ]
McMacken, G. [1 ]
Alrohaif, H. [1 ]
Harris, E. [1 ]
Mueller, J. [1 ]
Chaouch, A. [1 ]
Cox, D. [1 ]
Evangelista, T. [1 ]
MacArthur, D. [4 ]
Magnusson, O. [5 ]
Nicole, S. [6 ]
Roos, A. [1 ]
Senderek, J. [7 ]
Bartoli, M. [2 ]
Abicht, A. [8 ]
Lochmueller, H.
机构
[1] Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England
[2] Univ Aix Marseille, INSERM, Marseille, France
[3] UFPR, Neurol Hosp Clin, Curitiba, Parana, Brazil
[4] Massachusetts Gen Hosp, Analyt & Translat Genet Unit, Boston, MA 02114 USA
[5] deCODE Genet, Reykjavik, Iceland
[6] Sorbonne Univ, INSERM, Paris, France
[7] Ludwig Maximilians Univ Munchen, Friedrich Baur Inst, Munich, Germany
[8] Med Genet Ctr, Munich, Germany
关键词
D O I
暂无
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
P10.44D
引用
收藏
页码:442 / 442
页数:1
相关论文
共 50 条
  • [1] Next generation sequencing technologies in the genetic diagnosis of congenital myasthenic syndrome
    Topf, A.
    Azuma, Y.
    Gorokhova, S.
    O'Connor, E.
    Porter, A.
    Harris, E.
    Evangelista, T.
    Cox, D.
    Lorenzoni, P.
    McMacken, G.
    Barton, M.
    McArthur, D.
    Magnusson, O.
    Abicht, A.
    Senderek, J.
    Roos, A.
    Abicht, A.
    Lochmuller, H.
    [J]. NEUROMUSCULAR DISORDERS, 2017, 27 : S196 - S197
  • [2] Use of Next-Generation Sequencing as a Diagnostic Tool for Congenital Myasthenic Syndrome
    Das, Alvin S.
    Agamanolis, Dimitri P.
    Cohen, Bruce H.
    [J]. PEDIATRIC NEUROLOGY, 2014, 51 (05) : 717 - 720
  • [3] Genetic diagnosis of rett syndrome by Next Generation Sequencing
    Vidal, S.
    Brandi, N. M.
    Pacheco, P.
    Gerotina, E.
    Blasco, L.
    Garcia, A.
    O'Callaghan, M.
    Gean, E.
    Pineda, M.
    Armstrong, J.
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 354 - 355
  • [4] A COMPARISON OF ARRAY TECHNOLOGIES AND NEXT GENERATION SEQUENCING TECHNOLOGIES IN PRECONCEPTION GENETIC DIAGNOSIS
    Bisignano, A.
    Ketterson, K.
    Fischer, J.
    Wells, D.
    Horcajadas, J.
    Bush, E.
    [J]. FERTILITY AND STERILITY, 2012, 98 (03) : S195 - S195
  • [5] Validation of next-generation sequencing technologies in genetic diagnosis of dementia
    Beck, John
    Pittman, Alan
    Adamson, Gary
    Campbell, Tracy
    Kenny, Joanna
    Houlden, Henry
    Rohrer, Jon D.
    de Silva, Rohan
    Shoai, Maryam
    Uphill, James
    Poulter, Mark
    Hardy, John
    Mummery, Catherine J.
    Warren, Jason D.
    Schott, Jonathan M.
    Fox, Nick C.
    Rossor, Martin N.
    Collinge, John
    Mead, Simon
    [J]. NEUROBIOLOGY OF AGING, 2014, 35 (01) : 261 - 265
  • [6] Next generation sequencing technologies for a successful diagnosis in a cold case of Leigh syndrome
    Paolo Aretini
    Chiara Maria Mazzanti
    Marco La Ferla
    Sara Franceschi
    Francesca Lessi
    Veronica De Gregorio
    Claudia Nesti
    Angelo Valetto
    Veronica Bertini
    Benedetta Toschi
    Roberta Battini
    Maria Adelaide Caligo
    [J]. BMC Neurology, 18
  • [7] Next generation sequencing technologies for a successful diagnosis in a cold case of Leigh syndrome
    Aretini, Paolo
    Mazzanti, Chiara Maria
    La Ferla, Marco
    Franceschi, Sara
    Lessi, Francesca
    De Gregorio, Veronica
    Nesti, Claudia
    Valetto, Angelo
    Bertini, Veronica
    Toschi, Benedetta
    Battini, Roberta
    Caligo, Maria Adelaide
    [J]. BMC NEUROLOGY, 2018, 18
  • [8] Next Generation Sequencing and the Future of Genetic Diagnosis
    Lohmann, Katja
    Klein, Christine
    [J]. NEUROTHERAPEUTICS, 2014, 11 (04) : 699 - 707
  • [9] Next Generation Sequencing and the Future of Genetic Diagnosis
    Katja Lohmann
    Christine Klein
    [J]. Neurotherapeutics, 2014, 11 : 699 - 707
  • [10] Next generation sequencing in HHT genetic diagnosis
    Giraud, S.
    Auboiroux, C.
    Chambe
    Dupuis-Girod, S.
    Riviere, S.
    Harle, J. R.
    Gerard, M.
    Astudillo, L.
    Mohamed, S.
    Lesca, G.
    Calender, A.
    [J]. ANGIOGENESIS, 2018, 21 (01) : 127 - 127