Sarah Helen Evans

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A microfluorometric (MF) method for measuring areal density and fiber intensity of fluorescent catecholamine fibers and varicosities was described in the previous paper. This method was then used to quantify sympathetic growth observed in the hippocampus after damage to the septal area. Because this MF method does not distinguish between catecholamine(More)
If a body of knowledge in a scientific discipline is to be extended beyond empirical observation and into the realm of laws and principles, one of the fundamental requirements is a taxonomy which supports the systematic integration of observations. Psychobiology benefits from taxonomies provided by biology and chemistry, which include not only object(More)
Mutations in genes encoding aminoacyl-tRNA synthetases are known to cause leukodystrophies and genetic leukoencephalopathies-heritable disorders that result in white matter abnormalities in the central nervous system. Here we report three individuals (two siblings and an unrelated individual) with severe infantile epileptic encephalopathy, clubfoot, absent(More)
Here we report whole exome sequencing (WES) on a cohort of 71 patients with persistently unresolved white matter abnormalities with a suspected diagnosis of leukodystrophy or genetic leukoencephalopathy. WES analyses were performed on trio, or greater, family groups. Diagnostic pathogenic variants were identified in 35% (25 of 71) of patients. Potentially(More)
Intra-septal injections of specific monoamine and cell body neurotoxins were used to determine the anatomical and biochemical elements critical to both short and longer term changes in reactivity normally seen after septal lesions. A multivariate discrimination performed on the basis of tactile, foot-shock and heat responsiveness revealed that septal(More)
OBJECTIVE Pelizaeus-Merzbacher-like disease is a rare hypomyelinating leukodystrophy caused by autosomal recessive mutations in GJC2, encoding a gap junction protein essential for production of a mature myelin sheath. A previously identified GJC2 mutation (c.-167G>A) in the promoter region is hypothesized to disrupt a putative SOX10 binding site; however,(More)
Leukodystrophies are a broad class of genetic disorders that result in disruption or destruction of central myelination. Although the mechanisms underlying these disorders are heterogeneous, there are many common symptoms that affect patients irrespective of the genetic diagnosis. The comfort and quality of life of these children is a primary goal that can(More)
Obstetrical brachial plexus palsy is a disorder of the peripheral nervous system and occurs in as many as 0.4% of infants born. It is associated with shoulder dystocia, use of mechanical extraction, and macrosomia; it occurs more frequently in infants born by vaginal delivery. The unilateral injury to the brachial plexus complex occurs during the delivery(More)
Myelomeningocele, commonly known as spina bifida, is a birth defect in which the spinal cord does not develop properly due to incomplete closure of the neural tube at 28 days of gestation. With advances in treatment modalities, technologies, and medical knowledge, people with spina bifida in the United States are living well into adulthood. Myelomeningocele(More)