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
  • [41] Screening for mutations in the RYR1 gene in families with malignant hyperthermia
    Viviane P. Muniz
    Helga C. A. Silva
    Ana Maria C. Tsanaclis
    Mariz Vainzof
    Journal of Molecular Neuroscience, 2003, 21 : 35 - 42
  • [42] Screening for mutations in the RYR1 gene in families with malignant hyperthermia
    Muniz, VP
    Silva, HCA
    Tsanaclis, AMC
    Vainzof, M
    NEUROMUSCULAR DISORDERS, 2003, 13 (7-8) : 627 - 627
  • [43] First Correction by Prime Editing of Mutations in the RYR1 Gene
    Godbout, Kelly
    Rousseau, Joel
    Tremblay, Jacques P.
    MOLECULAR THERAPY, 2024, 32 (04) : 343 - 343
  • [44] Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis
    Dlamini, N.
    Voermans, N. C.
    Lillis, S.
    Stewart, K.
    Kamsteeg, E. -J.
    Drost, G.
    Quinlivan, R.
    Snoeck, M.
    Norwood, F.
    Radunbvic, A.
    Straub, V.
    Roberts, M.
    Vrancken, A. F. J. E.
    van der Pol, W. L.
    de Coo, R. I. F. M.
    Manzur, A. Y.
    Yau, S.
    Abbs, S.
    King, A.
    Lammens, M.
    Hopkins, P. M.
    Mohammed, S.
    Treves, S.
    Muntoni, F.
    Wraige, E.
    Davis, M. R.
    van Engelen, B.
    Jungbluth, H.
    NEUROMUSCULAR DISORDERS, 2013, 23 (07) : 540 - 548
  • [45] Mutations in RYR1 in malignant hyperthermia and central core disease
    Robinson, Rachel
    Carpenter, Danielle
    Shaw, Marie-Anne
    Halsall, Jane
    Hopkins, Philip
    HUMAN MUTATION, 2006, 27 (10) : 977 - 989
  • [46] Myopathic dropped head syndrome. An expanding clinico-pathological spectrum
    Waclawik, AJ
    Lotz, BP
    Salamat, SM
    Beinlich, BR
    Brooks, BR
    NEUROLOGY, 1997, 48 (03) : 6142 - 6142
  • [47] Pediatric Myxopapillary Ependymomas: Clinico-Pathological Evaluation of 7 Cases
    Eschbacher, Kathryn
    Rao, Amulya Nageswara
    Raghunathan, Aditya
    JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 2019, 78 (06): : 536 - 536
  • [48] Clinical and genetic findings in a large cohort of patients with congenital myopathies due to mutations in the skeletal muscle ryanodine receptor (RYR1) gene
    Klein, A.
    Lillis, S.
    Oprea, I.
    Scoto, M.
    Robb, S.
    Manzur, A.
    Straub, V.
    Roper, H.
    Jeannet, P. Y.
    Kingston, H.
    Jensen, U. B.
    Wraige, E.
    Trump, N.
    Rakowicz, W.
    Roberts, M.
    Longman, C.
    Lochmuller, H.
    Bushby, K.
    Hughes, M. I.
    Abbs, S.
    Jungbluth, H.
    Muntoni, F.
    NEUROMUSCULAR DISORDERS, 2011, 21 (9-10) : 694 - 694
  • [49] Stage 1 Ovarian Carcinoma: Clinico-Pathological Correlations
    Deligdisch, L.
    Pradhan, T. S.
    Mares, A.
    18TH WORLD CONGRESS ON CONTROVERSIES IN OBSTETRICS, GYNECOLOGY & INFERTILITY (COGI), 2014, : 421 - 427
  • [50] Involvement of μ-protocadherin in colorectal carcinogenesis: a promise for clinico-pathological evaluation
    Losi, Lorena
    Grande, Alexis
    HISTOLOGY AND HISTOPATHOLOGY, 2014, 29 (01) : 11 - 19
12345