Concepedia

Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene

Haiyan Zhou, Suzanne Lillis, Ryan E. Loy, Farshid Ghassemi, Michael R. Rose, Fiona Norwood, Kerry Mills, Safa Al‐Sarraj, Russell J.M. Lane, Lucy Feng,

Neuromuscular Disorders · 2010 · 90 citations · 29 references

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References

29

Enhanced dihydropyridine receptor channel activity in the presence of ryanodine receptor

Junichi Nakai, Robert T. Dirksen, Hanh T. Nguyen et al. · Nature · 1996 · 447 citations

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Malignant-Hyperthermia Susceptibility Is Associated with a Mutation of the a1-Subunit of the Human Dihydropyridine-Sensitive L-Type Voltage-Dependent Calcium-Channel Receptor in Skeletal Muscle

Nicole Monnier, Vincent Procaccio, P Stieglitz et al. · The American Journal of Human Genetics · 1997 · 416 citations · Full text

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Excitation-contraction uncoupling and muscular degeneration in mice lacking functional skeletal muscle ryanodine-receptor gene

Hiroshi Takeshima, Masamitsu lino, Hiroaki Takekura et al. · Nature · 1994 · 373 citations

, , +16

Mutations of the Selenoprotein N Gene, Which Is Implicated in Rigid Spine Muscular Dystrophy, Cause the Classical Phenotype of Multiminicore Disease: Reassessing the Nosology of Early-Onset Myopathies

Ana Ferreiro, Susana Quijano-Roy, Claire Pichereau et al. · The American Journal of Human Genetics · 2002 · 363 citations · Full text

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A mutation in the human ryanodine receptor gene associated with central core disease

Yilin Zhang, Hai Shiene Chen, Vijay K. Khanna et al. · Nature Genetics · 1993 · 328 citations

, , +10