Defective excitation-contraction coupling and mitochondrial respiration precede mitochondrial Ca2+ accumulation in spinobulbar muscular atrophy skeletal muscle

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

Albert R. La Spada, Elizabeth Wilson, Dennis B. Lubahn et al. · Nature · 1991 · 2.8K citations

Developmental Biology, Somatic Variant, Mendelian Disorder +6

Integrative genomics identifies MCU as an essential component of the mitochondrial calcium uniporter

Joshua M. Baughman, Fabiana Perocchi, Hany S. Girgis et al. · Nature · 2011 · 1.9K citations · Full text

Molecular Physiology, Mitochondrial Function, Natural Sciences +9

A forty-kilodalton protein of the inner membrane is the mitochondrial calcium uniporter

Diego De Stefani, Anna Raffaello, Enrico Teardo et al. · Nature · 2011 · 1.9K citations · Full text

Membrane Fusion, Forty-kilodalton Protein, Molecular Physiology +13

Identification of a Mutation in Porcine Ryanodine Receptor Associated with Malignant Hyperthermia

Junichi Fujii, Kinya Otsu, Francesco Zorzato et al. · Science · 1991 · 1.5K citations

Progressive proximal spinal and bulbar muscular atrophy of late onset

William R. Kennedy, Milton Alter, Joo Ho Sung · Neurology · 1998 · 681 citations

Motor Dysfunction, Genetics, Spine Deformity +21