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Myotonic dystrophy (DM1), the most common muscular dystrophy in adults, is caused by an expanded (CTG)n tract in the 3' UTR of the gene encoding myotonic dystrophy protein kinase (DMPK), which results in nuclear entrapment of the 'toxic' mutant RNA and interacting RNA-binding proteins (such as MBNL1) in ribonuclear inclusions. It is unclear if therapy aimed(More)
OBJECTIVES To assess the effects that the recent seasonal change in rugby league from winter to summer has had on the incidence of injury. METHODS All injuries that occurred during games and training were recorded throughout four consecutive seasons (three winter, one summer) for the first team squad of a British professional rugby league club. Data(More)
DAP12 is an ITAM-bearing membrane adaptor molecule implicated in the activation of NK and myeloid cells. In mice rendered DAP12 deficient by targeted gene disruption, lymphoid and myeloid development was apparently normal, although the activating Ly49 receptors on NK cells were downregulated and nonfunctional. To analyze the consequences of DAP12 deficiency(More)
Mechanisms of hypnotic analgesia were investigated by examining changes in the R-III, a nociceptive spinal reflex, during hypnotic reduction of pain sensation and unpleasantness. The R-III was measured in 15 healthy volunteers who gave VAS-sensory and VAS-affective ratings of an electrical stimulus during conditions of resting wakefulness, suggestions for(More)
Sera from 30 patients with sporadic amyotrophic lateral sclerosis (ALS) were tested to determine their effects at the neuromuscular junction. Spontaneous transmitter release was significantly increased, as evidenced by a 151% increase in MEPP frequency, by sera from 16 ALS patients. In addition, 16 patients' sera elevated EEP quantal content by an average(More)
Intraoperative electrophysiological monitoring of the spinal cord has traditionally been done by recording somatosensory evoked potentials (SEP). There is a risk that SEPs can be unaltered when significant injury to the anterior spinal cord has occurred. The purpose of this report is to describe a simple technique for intraoperative spinal cord stimulation(More)
OBJECTIVE To survey the epidemiologic literature for evidence of an increasing prevalence of myasthenia gravis (MG) over time, and to explore the reasons for the increase. DATA SOURCES We found population-based reports of the epidemiology of MG by searching bibliographic databases. We used MG, epidemiology, prevalence, incidence, and mortality as search(More)
The average annual incidence of subarachnoid hemorrhage (SAH) from aneurysm rupture in Rochester, Minnesota, has remained remarkably constant at about 11 per 100,000 population. Age-specific incidence increased with age. Survival after SAH depended on: (1) clinical grade, (2) time after onset of SAH, and (3) presence of intracerebral hematoma. Among those(More)
Mitochondria are abnormal in persons with amyotrophic lateral sclerosis (ALS) for unknown reasons. We explored whether aberration of mitochondrial DNA (mtDNA) could play a role in this by transferring mitochondrial DNA (mtDNA) from ALS subjects to mtDNA-depleted human neuroblastoma cells. Resulting ALS cytoplasmic hybrids (cybrids) exhibited abnormal(More)
Stiff-man syndrome is a rare disorder of unknown etiology in which progressive rigidity, spasms, and continuous motor unit activity may be due to dysfunction of GABAergic inhibition of alpha motor neurons. Some patients with this disorder have evidence of autoantibodies reactive with glutamic acid decarboxylase (GAD). We describe a patient with progressive(More)