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We performed a retrospective chart review on 53 muscle-specific kinase antibody (MuSK-Ab)-positive myasthenia gravis (MG) patients at nine university-based centers in the U.S. Of these, 66% were Caucasian, 85% were women, and age of onset was 9-79 years. Twenty-seven patients were nonresponsive to anticholinesterase therapy. Myasthenia Gravis Foundation of(More)
Our knowledge of the specific root innervation of skeletal muscles is derived from accumulated clinical experience. While performing selective posterior rhizotomy for treatment of spasticity in children with cerebral palsy, we made direct electrophysiologic measurement of the root innervation of the lower extremity. We stimulated ventral roots from L2 to S2(More)
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)
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)
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)
A major decline in the incidence of stroke occurred in the population of Rochester, Minnesota, during the period 1945 to 1974. For every 100 first episodes of stroke that occurred per unit of population during the period 1945--49, only 55 occurred in the period 1970--74. Although the decline was present in both sexes and in all age groups, the reduction in(More)
Sarcoidosis is multisystem granulomatous disease of unknown etiology. Although the nervous system is involved in only 5% to 16% of patients, neurosarcoidosis is one of the more serious manifestations of the disease. Cranial neuropathies are common, but involvement of the mininges or the brain or spinal cord parenchyma causes more severe morbidity. MR(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)
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)