WHOLE EXOME SEQUENCING IN INHERITED NEUROPATHIES FROM SOUTH INDIA

被引:0
|
作者
Perrain, Valentine [1 ]
Record, Christopher [1 ]
Wilson, Lindsay [1 ]
Macken, William [1 ]
Vandrovcova, Jana [1 ]
Tallapaka, Karthik [2 ]
Dalal, Ashwin [2 ]
Govindaraj, P. [2 ]
Jabeen, Shaik [3 ]
Yareeda, Sireesha [3 ]
Mahesh, Bandari [3 ]
Naveena, M.
Thangaraj, K. [2 ]
Reilly, Mary [1 ]
机构
[1] UCL, Queen Sq Ctr Neuromuscular Dis, London, England
[2] CCMB, Hyderabad, India
[3] NIMS, Hyderabad, India
关键词
Hereditary neuropathy; next-generation sequencing; CMT;
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
P 093
引用
收藏
页码:S40 / S41
页数:2
相关论文
共 50 条
  • [2] Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges
    Maria Schabhüttl
    Thomas Wieland
    Jan Senderek
    Jonathan Baets
    Vincent Timmerman
    Peter De Jonghe
    Mary M. Reilly
    Karl Stieglbauer
    Eva Laich
    Reinhard Windhager
    Wolfgang Erwa
    Slave Trajanoski
    Tim M. Strom
    Michaela Auer-Grumbach
    Journal of Neurology, 2014, 261 : 970 - 982
  • [3] Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges
    Schabhuettl, Maria
    Wieland, Thomas
    Senderek, Jan
    Baets, Jonathan
    Timmerman, Vincent
    De Jonghe, Peter
    Reilly, Mary M.
    Stieglbauer, Karl
    Laich, Eva
    Windhager, Reinhard
    Erwa, Wolfgang
    Trajanoski, Slave
    Strom, Tim M.
    Auer-Grumbach, Michaela
    JOURNAL OF NEUROLOGY, 2014, 261 (05) : 970 - 982
  • [4] Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families
    Hartley, T.
    Wagner, J. D.
    Warman-Chardon, J.
    Tetreault, M.
    Brady, L.
    Baker, S.
    Tarnopolsky, M.
    Bourque, P. R.
    Parboosingh, J. S.
    Smith, C.
    McInnes, B.
    Innes, A. M.
    Bernier, F.
    Curry, C. J.
    Yoon, G.
    Horvath, G. A.
    Bareke, E.
    Gillespie, M.
    Majewski, J.
    Bulman, D. E.
    Dyment, D. A.
    Boycott, K. M.
    CLINICAL GENETICS, 2018, 93 (02) : 301 - 309
  • [5] Application of whole exome sequencing in undiagnosed inherited polyneuropathies
    Klein, Christopher J.
    Middha, Sumit
    Duan, Xiaohui
    Wu, Yanhong
    Litchy, William J.
    Gu, Weihong
    Dyck, P. James B.
    Gavrilova, Ralitza H.
    Smith, David I.
    Kocher, Jean-Pierre
    Dyck, Peter J.
    JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2014, 85 (11): : 1265 - 1272
  • [6] Application of whole exome sequencing for patients with inherited platelet disorders
    Simons, A.
    Stevens-Kroef, M.
    van Heerde, W.
    Schols, S.
    Brons, P.
    de Munnik, S.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 1369 - 1369
  • [7] Analysis of yield and utility of whole exome and whole genome sequencing in neuropathies from a specialized adult neurology clinic
    Gunko, Alex
    Murphy, Michael
    Bogdanova-Mihaylova, Petya
    Murphy, Sinead
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2021, 26 (03) : 434 - 434
  • [8] Whole exome sequencing in familial primary glaucoma from eastern India
    Rao, Aparna
    Narta, Kiran
    Padhy, Debananda
    Reddy, Mamatha M.
    Mukhopadhyay, Arijit
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2016, 57 (12)
  • [9] Rare inherited mitochondrial neuropathies with recessive mutations in MPV17 and SCO2 identified by whole exome sequencing
    Polavarapu, Kiran
    Preethish-Kumar, Veeramani
    Raju, Sanita
    Chawla, Tanushree
    Shinghavi, Leena
    Arunachal, Gautham
    Vengalil, Seena
    Nashi, Saraswati
    Nalini, Atchayaram
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2021, 26 (01) : 130 - 131
  • [10] Evaluation of Secondary Findings from Whole Genome and Whole Exome Sequencing in Inherited Retinal Disease Patients
    Mehta, Setu
    Aguirre, Bani
    Esposito, Edward
    Pan, Annabelle
    Singh, Mandeep
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2024, 65 (07)