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Spinal muscular atrophy (SMA) is an autosomal recessive disorder that is the leading genetic cause of infantile death. SMA is… Expand Here we report a Japanese family with amyotrophic lateral sclerosis (ALS) characterized by very rapid progression, high… Expand Abnormal accumulation of disease-causing protein is a commonly observed characteristic in chronic neurodegenerative disorders… Expand Spinal and bulbar muscular atrophy (SBMA) is a late-onset motor neuron disease characterized by proximal muscle atrophy, weakness… Expand SummaryCreatinine clearance is commonly used as a parameter for individualization of dosages of drugs primarily excreted by the… Expand Spinal and bulbar muscular atrophy (SBMA) is a late-onset motor neuron disease characterized by proximal muscle atrophy, weakness… Expand We report a Japanese family with chronic progressive external ophthal‐moplegia (CPEO) with autosomal dominant inheritance, and… Expand We report the clinical, laboratory, functional and histological features of 100 male alcoholic patients of whom 44 had chronic… Expand 1. Muscle protein breakdown in vivo has been studied by measurements of urinary 3-methyl-histidine/creatinine ratios. No… Expand Two adult Ashkenazi Jewish siblings have had slowly progressive deterioration of gait and posture since early childhood, distal… Expand