onset Alzheimer ' s disease in Argentina . Apolipoprotein E polymorphism and late
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چکیده
seem to be the origin of spontaneous activities in our patient. Pharmacological studies support this hypothesis. Stimulation SFEMG confirmed a normal neuromuscular transmission in Schwartz-Jampel syndrome, whereas voluntary SFEMG was not helpful due to technical difficulties. Jitter studies have been performed in three previous reports of Schwartz-Jampel syndrome.2 4 However, adequate numbers of single fibre action potential pairs for quantitative measurement were not obtained in these studies. Their data showed abnormal jitter with rare blocking. In one case,4 electrophysiological and morphological studies, including a quantitative end plate measurement, suggested no abnormalities in the
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Apolipoprotein E: high-avidity binding to beta-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease.
Apolipoprotein E is immunochemically localized to the senile plaques, vascular amyloid, and neurofibrillary tangles of Alzheimer disease. In vitro, apolipoprotein E in cerebrospinal fluid binds to synthetic beta A4 peptide (the primary constituent of the senile plaque) with high avidity. Amino acids 12-28 of the beta A4 peptide are required. The gene for apolipoprotein E is located on chromosom...
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