Evaluation of clinico-pathological and genetic spectrum of RYR1 mutations in Indian cohort

被引：0
|
作者：
Sharma, M. C. [1 ]
Dhall, A. [1 ]
Jassal, B. [1 ]
Suri, V. [1 ]
Faruq, M. [1 ]
Shamim, U. [1 ]
Bhatia, R. [1 ]
Chakarwarti, B. [1 ]
Gulati, S. [1 ]
Venugopalan, V. Y. [1 ]
机构：
[1] All India Inst Med Sci, Neuropathol, Delhi, India
来源：
BRAIN PATHOLOGY | 2023年 / 33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：
S16-MN-A26
引用
收藏
页数：2
相关论文
共 50 条
  • [1] Evaluation of clinico-pathological and genetic spectrum of FLNC mutations in Indian cohort
    Sharma, M.
    Dhall, A.
    Jassal, B.
    Suri, V.
    Faruq, M.
    Shamim, U.
    Bhatia, R.
    Venugopalan, Y. V.
    Chakarwarti, B.
    Gulati, S.
    NEUROMUSCULAR DISORDERS, 2024, 43
  • [2] Evaluation of clinico-pathological and genetic spectrum of Ullrich congenital muscular dystrophy patients from Indian cohort
    Dhall, Aishwarya
    Jassal, Bandana
    Mohammed, Faruq
    Bhatia, Rohit
    Gulati, Sheffali
    Suri, Vaishali
    Sharma, Mehar
    Shamim, Uzma
    Venugopalan, Y. Vishnu
    Chakrabarty, Biswaroop
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2023, 455
  • [3] Pathological RyR1 Mutations to Identify RyR1 Functional Domains
    Cacheux, Marine
    Faure, Julien
    Brocard, Julie
    Monnier, Nicole
    Lunardi, Joel
    Marty, Isabelle
    BIOPHYSICAL JOURNAL, 2011, 100 (03) : 592 - 593
  • [4] Clinico-pathological and Molecular Spectrum of Mitochondrial Polymerase γ Mutations in a Cohort from India
    Sekar Deepha
    Periyasamy Govindaraj
    Bindu Parayil Sankaran
    Shwetha Chiplunkar
    Chetan Kashinkunti
    Vandana Nunia
    Madhu Nagappa
    Sanjib Sinha
    Tripti Khanna
    Kumarasamy Thangaraj
    Arun B. Taly
    Narayanappa Gayathri
    Journal of Molecular Neuroscience, 2021, 71 : 2219 - 2228
  • [5] Clinico-pathological and Molecular Spectrum of Mitochondrial Polymerase γ Mutations in a Cohort from India
    Deepha, Sekar
    Govindaraj, Periyasamy
    Sankaran, Bindu Parayil
    Chiplunkar, Shwetha
    Kashinkunti, Chetan
    Nunia, Vandana
    Nagappa, Madhu
    Sinha, Sanjib
    Khanna, Tripti
    Thangaraj, Kumarasamy
    Taly, Arun B.
    Gayathri, Narayanappa
    JOURNAL OF MOLECULAR NEUROSCIENCE, 2021, 71 (11) : 2219 - 2228
  • [6] The pathological spectrum associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene
    Sewry, C.
    Jungbluth, H.
    Feng, L.
    Muntoni, F.
    NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, 2011, 37 : 30 - 30
  • [7] The pathological spectrum associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene
    Sewry, C.
    Jungbluth, H.
    Feng, L.
    Muntoni, F.
    NEUROMUSCULAR DISORDERS, 2011, 21 : S26 - S26
  • [8] The pathological spectrum associated with mutations in the skeletal muscle ryanodine receptor 1 (RYR1) gene
    Feng, L.
    Jungbluth, H.
    Jimenez-Mallebrera, C.
    Zhou, H.
    Brown, S. C.
    Quinlivan, R.
    Muntoni, F.
    Sewry, C. A.
    NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, 2009, 35 : 15 - 16
  • [9] Gastritis: The clinico-pathological spectrum
    Rugge, Massimo
    Savarino, Edoardo
    Sbaraglia, Marta
    Bricca, Ludovica
    Malfertheiner, Peter
    DIGESTIVE AND LIVER DISEASE, 2021, 53 (10) : 1237 - 1246
  • [10] TERT promoter mutations in gliomas, genetic associations and clinico-pathological correlations
    M Labussière
    A L Di Stefano
    V Gleize
    B Boisselier
    M Giry
    S Mangesius
    A Bruno
    R Paterra
    Y Marie
    A Rahimian
    G Finocchiaro
    R S Houlston
    K Hoang-Xuan
    A Idbaih
    J-Y Delattre
    K Mokhtari
    M Sanson
    British Journal of Cancer, 2014, 111 : 2024 - 2032
12345