Genotype-phenotype correlations in recessive RYR1-related myopathies.
Orphanet Journal Of Rare Diseases
Amburgey, Kimberly K; Bailey, Angela A; Hwang, Jean H JH; Tarnopolsky, Mark A MA; Bonnemann, Carsten G CG; Medne, Livija L; Mathews, Katherine D KD; Collins, James J; Daube, Jasper R JR; Wellman, Gregory P GP; Callaghan, Brian B; Clarke, Nigel F NF; Dowling, James J JJ
Flow cytometry for the analysis of α-dystroglycan glycosylation in fibroblasts from patients with dystroglycanopathies.
Plos One
Stevens, Elizabeth E; Torelli, Silvia S; Feng, Lucy L; Phadke, Rahul R; Walter, Maggie C MC; Schneiderat, Peter P; Eddaoudi, Ayad A; Sewry, Caroline A CA; Muntoni, Francesco F
A recessive ryanodine receptor 1 mutation in a CCD patient increases channel activity.
Cell Calcium
Ghassemi, Farshid F; Vukcevic, Mirko M; Xu, Le L; Zhou, Haiyan H; Meissner, Gerhard G; Muntoni, Francesco F; Jungbluth, Heinz H; Zorzato, Francesco F; Treves, Susan S