Concepedia

Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel

Andrea I. McClatchey, Diane McKenna‐Yasek, Didier Cros, Hilary G. Worthen, Ralph W. Kuncl, Shari DeSilva, David R. Cornblath, James F. Gusella, Robert H. Brown

Nature Genetics · 1992 · 141 citations · 18 references

DOI

Concepts

References

18

Loss of genes on chromosome 22 in tumorigenesis of human acoustic neuroma

Bernd R. Seizinger, Robert L. Martuza, James F. Gusella · Nature · 1986 · 531 citations

, , +10

Identification of a mutation in the gene causing hyperkalemic periodic paralysis

Louis J. Ptáček, Alfred L. George, Robert C. Griggs et al. · Cell · 1991 · 388 citations

, , +9

A Met-to-Val mutation in the skeletal muscle Na+ channel α-subunit in hyperkalaemic periodic paralysis

Cecilia Rojas, Jianzhou Wang, Lisa Schwartz et al. · Nature · 1991 · 318 citations

, , +16

A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia

Elizabeth F. Gillard, Kinya Otsu, Junichi Fujii et al. · Genomics · 1991 · 317 citations

, , +6

Hyperkalemic Periodic Paralysis and the Adult Muscle Sodium Channel α-Subunit Gene

Bertrand Fontaine, Tejvir S. Khurana, Eric P. Hoffman et al. · Science · 1990 · 307 citations

, , +17