C. Michel Harper

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The authors found that fluoxetine significantly shortens at 5 microM/L and nearly normalizes at 10 microM/L the prolonged opening bursts of slow-channel congenital myasthenic syndrome (SCCMS) acetylcholine receptors (AChR) expressed in fibroblasts. Prompted by this observation, they treated two SCCMS patients allergic to quinidine with up to 80 to 120 mg of(More)
Congenital myasthenic syndromes (CMSs) stem from genetic defects in endplate (EP)-specific presynaptic, synaptic, and postsynaptic proteins. The postsynaptic CMSs identified to date stem from a deficiency or kinetic abnormality of the acetylcholine receptor (AChR). All CMSs with a kinetic abnormality of AChR, as well as many CMSs with a deficiency of AChR,(More)
OBJECTIVE Detailed analysis of phenotypic and molecular genetic aspects of Dok-7 myasthenia in 16 patients. METHODS We assessed our patients by clinical and electromyographic studies, by intercostal muscle biopsies for in vitro microelectrode analysis of neuromuscular transmission and quantitative electron microscopy EM of 409 end plates (EPs), and by(More)
The aim of this study was to evaluate the utility of repetitive nerve stimulation (RNS) of the trigeminal nerve in assessing patients with myasthenia gravis (MG). In 26 normal controls and 21 patients with myasthenia gravis (MG), 2-Hz repetitive stimulation of the trigeminal nerve was performed using a monopolar needle for percutaneous nerve stimulation and(More)
OBJECTIVE To identify the molecular basis of a fatal syndrome of microcephaly, cortical hyperexcitability, and myasthenia. METHODS We performed clinical and in vitro microelectrode studies of neuromuscular transmission, examined neuromuscular junctions cytochemically and by electron microscopy (EM), and searched for mutations by Sanger and exome(More)
UNLABELLED Regenerative technologies strive to boost innate repair processes and restitute normative impact. Deployment of regenerative principles into practice is poised to usher in a new era in health care, driving radical innovation in patient management to address the needs of an aging population challenged by escalating chronic diseases. There is(More)
OBJECTIVE To describe the clinical and electrophysiologic features of an unselected population of patients diagnosed clinically or genetically with oculopharyngeal muscular dystrophy (OPMD), and to discern any association with a peripheral neuropathy. METHODS Patients with a clinical or genetic diagnosis of OPMD were retrospectively identified and(More)
The objective of this study was to compare the sensitivity of needle electromyography of the abductor hallucis and peroneus tertius muscles in the diagnosis of mild length-dependent peripheral neuropathy (PN). Nerve conduction studies and needle examination were performed on 50 patients with clinical evidence of mild PN. Results demonstrated that the(More)