Lawrence H. Phillips

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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)
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)
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)
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)
BACKGROUND There is some evidence that patients with Parkinson's disease may impaired in prospective memory performance (planning and self initiated realisation of delayed intentions). Little is known about the effect of the disease on distinct phases of prospective memory and the potential mechanisms underlying these effects. OBJECTIVE To investigate(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)
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)
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)
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)
Our objective was to determine the effect of creatine monohydrate on disease progression in patients with amyotrophic lateral sclerosis (ALS). One hundred and seven patients with the diagnosis of probable or definite ALS, of less than five years duration from symptom onset, were randomized to either treatment with daily creatine monohydrate (5 g/d) or(More)