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175,091 results
  • MR Imaging of Atraumatic Muscle Disorders. [Journal Article]
  • RRadiographics 2018 Feb 16; :170112
  • Smitaman E, Flores DV, … Pathria MN
  • Atraumatic disorders of skeletal muscles include congenital variants; inherited myopathies; acquired inflammatory, infectious, or ischemic disorders; neoplastic diseases; and conditions leading to mu...
  • MERRF Classification: Implications for Diagnosis and Clinical Trials. [Review]
  • PNPediatr Neurol 2017 Dec 13
  • Finsterer J, Zarrouk-Mahjoub S, Shoffner JM
  • CONCLUSIONS: MERRF is primarily an MT-TK disease, with pathogenic variants in this gene accounting for ~90% of MERRF patients. Although MERRF is phenotypically and genotypically heterogeneous, myoclonic epilepsy is the clinical feature that distinguishes MERRF from other categories of mitochondrial disorders. Given its low frequency in mitochondrial disorders, myoclonic epilepsy is not explained simply by an impairment of cellular energetics. Although MERRF phenocopies can occur in other genes, additional data are needed to establish a MERRF disease-gene association. This approach to MERRF emphasizes standardized classification rather than clinical phenomenology, thus improving patient diagnosis and clinical trial design.
  • Autoimmune necrotising myopathy and HMGCR antibodies. [Journal Article]
  • PNPract Neurol 2018 Feb 08
  • Karunaratne K, Amiras D, … Viegas S
  • Statins lower serum cholesterol concentrations by inhibiting the enzyme 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR). Muscle side effects are relatively common and include asymptomatic ele...
  • Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families. [Journal Article]
  • EJEur J Neurol 2018 Feb 13
  • Jonson PH, Palmio J, … Udd B
  • CONCLUSIONS: The mutational and phenotypical spectrum of DNAJB6-caused muscle disease is larger than previously reported, including also dysphagia. The originally reported c.279C>G (p.Phe93Leu) mutation is now identified in four different populations and appears to be a mutational hotspot. Our report confirms that some DNAJB6 mutations cause distal-onset myopathy and hence DNAJB6 defects should be considered broadly in dominant muscular dystrophy families. This article is protected by copyright. All rights reserved.
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