The pathological spectrum associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene

被引：0
|
作者：
Sewry, C. [1 ]
Jungbluth, H. [1 ]
Feng, L. [1 ]
Muntoni, F. [1 ]
机构：
[1] St Thomas Hosp, Dept Paediat Neurol, Evelina Childrens Hosp, London, England
来源：
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY | 2011年 / 37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：
引用
收藏
页码：30 / 30
页数：1
相关论文
共 50 条
  • [41] Late-onset axial myopathy with cores due to a novel dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene
    Jungbluth, H.
    Lillis, S.
    Zhou, H.
    Abbs, S.
    Swash, M.
    Muntoni, F.
    NEUROMUSCULAR DISORDERS, 2008, 18 (9-10) : 809 - 809
  • [42] Expanding range of phenotypes associated with mutations in the skeletal muscle ryanodine receptor gene
    Jungbluth, H
    Zhou, H
    Treves, S
    Sewry, C
    Muntoni, F
    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 2006, 48 : 7 - 8
  • [43] Sequence polymorphism of exon 17 of the ryanodine receptor gene (ryr1) in the Canidae
    Gronek, P
    Nuc, K
    Napierala, D
    Plawski, A
    Zajac, M
    Banasiewicz, T
    Slomski, R
    JOURNAL OF ANIMAL AND FEED SCIENCES, 2000, 9 (04): : 721 - 726
  • [44] PCR genotyping of the ryanodine receptor gene RYR1 in Yugoslav meat swine
    Sarac, M
    Jovanovic, S
    Gagrcin, M
    ACTA VETERINARIA-BEOGRAD, 1996, 46 (04): : 185 - 191
  • [45] Ryanodine receptor gene (RyR1): Its polymorphism and relation to pig reproduction
    Szczepankiewicz, D
    Lechniak, D
    MEDYCYNA WETERYNARYJNA-VETERINARY MEDICINE-SCIENCE AND PRACTICE, 2005, 61 (03): : 262 - 265
  • [46] Skeletal muscle ryanodine receptor: spectrum of associated pathologies
    Romero, NB
    Ferreiro, A
    Monnier, N
    Nivoche, Y
    Leroy, JP
    Guicheney, P
    Fardeau, M
    Lunardi, J
    NEUROMUSCULAR DISORDERS, 2003, 13 (7-8) : 616 - 616
  • [47] Regulation of the Skeletal Muscle Ryanodine Receptor/Ca2+ -release Channel RyR1 by S-Palmitoylation
    Chaube, Ruchi
    Hess, Douglas T.
    Wang, Ya-Juan
    Plummer, Bradley
    Sun, Qi-An
    Laurita, Kennneth
    Stamler, Jonathan S.
    JOURNAL OF BIOLOGICAL CHEMISTRY, 2014, 289 (12) : 8612 - 8619
  • [48] Late-onset axial myopathy with cores due to a novel heterozygous dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene
    Jungbluth, Heinz
    Lillis, Suzanne
    Zhou, Haiyan
    Abbs, Stephen
    Sewry, Caroline
    Swash, Michael
    Muntoni, Francesco
    NEUROMUSCULAR DISORDERS, 2009, 19 (05) : 344 - 347
  • [49] GENOMIC ORGANIZATION OF THE PORCINE SKELETAL-MUSCLE RYANODINE RECEPTOR (RYR1) GENE CODING REGION-4624 TO REGION-7929
    LEEB, T
    SCHMOLZL, S
    BREM, G
    BRENIG, B
    GENOMICS, 1993, 18 (02) : 349 - 354
  • [50] Unraveling RYR1 mutations and muscle biopsies
    Morrison, Leslie
    NEUROLOGY, 2008, 70 (02) : 99 - 100
12345