Next generation sequencing for genetic diagnosis and gene identification in myopathies

被引：0
|
作者：
Bohm, J. [1 ]
Vasli, N. [1 ]
Schaffer, U. [1 ]
Le Gras, S. [1 ]
Jost, B. [1 ]
Romero, N. B. [2 ]
Levy, N. [3 ]
Malfatti, E. [2 ]
Biancalana, V. [1 ]
Laporte, J. [1 ]
机构：
[1] IGBMC, Illkirch Graffenstaden, France
[2] Inst Myol, Unite Morphol Neuromusculaire, Paris, France
[3] INSERM, Fac Med Marseille, UMRS 910, F-13258 Marseille, France
来源：
NEUROMUSCULAR DISORDERS | 2012年 / 22卷 / 9-10期
关键词：
D O I：
10.1016/j.nmd.2012.06.018
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：806 / 806
页数：1
相关论文
共 50 条
  • [21] Metabolic Myopathies in the Era of Next-Generation Sequencing
    Urtizberea, Jon Andoni
    Severa, Gianmarco
    Malfatti, Edoardo
    GENES, 2023, 14 (05)
  • [22] Molecular Diagnostic Approaches to Metabolic Myopathies by Target Gene Capture and Next Generation Sequencing
    Zhang, Victor
    Cui, Hong
    Wang, Jing
    Wong, Lee-jun
    NEUROLOGY, 2012, 78
  • [23] Next-generation sequencing in genetic diagnosis of skin disease
    Scott, C.
    Bland, P.
    Plagnol, V.
    Nitoiu, D.
    Poon, D.
    O'Toole, E.
    Kelsell, D.
    BRITISH JOURNAL OF DERMATOLOGY, 2012, 166 (04) : e34 - e34
  • [24] Diagnosis of genetic disorders in childhood with next-generation sequencing
    Otilia, Menyhart
    Balazs, Gyorffy
    Andras, Szabo
    ORVOSI HETILAP, 2022, 163 (51) : 2027 - 2040
  • [25] TARGETED NEXT GENERATION SEQUENCING FOR GENETIC DIAGNOSIS OF FAMILIAL HYPERCHOLESTEROLEMIA
    Maglio, C.
    Mancina, R. M.
    Motta, B. M.
    Pirazzi, C.
    Wiklund, O.
    Romeo, S.
    ATHEROSCLEROSIS, 2014, 235 (02) : E100 - E100
  • [26] Targeted next-generation sequencing for the genetic diagnosis of dysferlinopathy
    Shin, H.
    Jang, H.
    Park, H.
    Lee, J.
    Kim, S.
    Choi, Y.
    Lee, J.
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2015, 357 : E345 - E345
  • [27] Targeted next-generation sequencing for the genetic diagnosis of dysferlinopathy
    Shin, Ha Young
    Jong, Hoon
    Han, Joo Hyung
    Park, Hyung Jun
    Lee, Jung Hwan
    Kim, So Won
    Kim, Seung Min
    Park, Young-Bun
    Kim, Dae-Seong
    Bang, Duhee
    Lee, Min Goo
    Lee, Ji Hyun
    Choi, Young-Chul
    NEUROMUSCULAR DISORDERS, 2015, 25 (06) : 502 - 510
  • [28] Combined biochemical and targeted-next generation sequencing panel for differential diagnosis of inherited myopathies
    Kasper, David C.
    Mechtler, Thomas P.
    Oliva, Petra
    Schwarz, Markus
    Wiesinger, Thomas
    Lukacs, Zoltan
    Streubel, Berthold
    MOLECULAR GENETICS AND METABOLISM, 2020, 129 (02) : S85 - S85
  • [29] Extending genetic analysis of hereditary myopathies beyond next-generation targeted and exome sequencing
    Goncalves, Ana
    Santos, Manuela
    Fortuna, Ana
    Coelho, Teresa
    Taipa, Ricardo
    Melo-Pires, Manuel
    Den Dunnen, Johan T.
    Sousa, Mario
    Santos, Rosario
    Oliveira, Jorge
    MEDICINE, 2019, 98 (26)
  • [30] Next generation sequencing technologies in the genetic diagnosis of Congenital Myasthenic Syndrome
    Toepf, A.
    Azuma, Y.
    Gorokhova, S.
    O'Connor, E.
    Porter, A.
    Lorenzoni, P.
    McMacken, G.
    Alrohaif, H.
    Harris, E.
    Mueller, J.
    Chaouch, A.
    Cox, D.
    Evangelista, T.
    MacArthur, D.
    Magnusson, O.
    Nicole, S.
    Roos, A.
    Senderek, J.
    Bartoli, M.
    Abicht, A.
    Lochmueller, H.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 442 - 442
12345