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51,673 results
  • COL6A and LAMA2 Mutation Congenital Muscular Dystrophy: A Clinical and Electrophysiological Study. [Journal Article]
  • JCJ Clin Neuromuscul Dis 2018; 19(3):108-116
  • Verma S, Goyal P, … Barkhaus PE
  • CONCLUSIONS: COL6A has unique skin changes, central cloud appearance on muscle ultrasound. LAMA2 has demyelinating polyneuropathy and white matter changes on brain imaging. The presence of neurogenic changes on EMG and muscle histology in COL6A suggests motor axonal neuropathy. Genetic testing remains the gold standard in confirming COL6A congenital muscular dystrophy.
  • The metabolic and endocrine characteristics in spinal and bulbar muscular atrophy. [Journal Article]
  • JNJ Neurol 2018 Feb 20
  • Rosenbohm A, Hirsch S, … Ludolph AC
  • CONCLUSIONS: Metabolic alterations in glucose homeostasis (diabetes) and fat metabolism (combined hyperlipidemia), and sex hormone abnormalities (androgen insensitivity) could be observed among SBMA patients without association with the neuromuscular phenotype. Dehydroepiandrosterone sulfate was the only biomarker that correlated strongly with both weakness duration and the CAG repeat length after adjusting for age and BMI, indicating its potential as a biomarker for both disease severity and duration and, therefore, its possible use as a reliable outcome measure in future therapeutic studies.
  • Acute steroid myopathy: a highly overlooked entity. [Journal Article]
  • QJMQJM 2018 Feb 15
  • Haran M, Schattner A, … Shvidel L
  • CONCLUSIONS: A high index of suspicion for the possibility of ASM is necessary, to ensure drug discontinuation and recovery. This is particularly true since the entity is not widely recognized and its symptoms are often erroneously interpreted as due to the patient's underlying disease.
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