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X-linked motor-sensory neuropathy type-II with deafness and mental retardation: a new disorder.
We report on a family with an apparently X-linked neuromuscular disease. Electrophysiologic tests and electron microscopic studies are consistent with the diagnosis of hereditary motor sensoryExpand
Diffuse liplfuscinosis of the central nervous system
MOST PREVIOUS OBSERVATIONS on the pathology of the “storage” diseases have centered on cellular appearances as seen with light microscopy and on the chemical nature of the stored material. MoreExpand
The cells of Cajal-Retzius in the developing human brain.
Tellurium‐induced neuropathy: correlative physiological, morphological and electron microprobe studies
Myokymia and impaired muscular relaxation with continuous motor unit activity.
We have studied two cases of the syndrome of myokymia and impaired muscular relaxation with continuous motor unit activity. Both patients complained of muscle twitching, weakness, stiffness, andExpand
Correlative morphological and biochemical studies of the human fetal sciatic nerve.
Abstract Correlative biochemical and morphological studies are reported concerning the sciatic nerves of 39 human fetuses ranging in age from 9 to 23 weeks. The period of premyelination — 9 to 17Expand
Neuropathological and neurochemical aspects of generalized glycogen storage disease
Some 30 cases of generalized glycogenosis have been reported and many of the accounts contain brief references to the presence of glycogen in some part of the central nervous system. Very few appearExpand
The relationship between parkinson syndrome and vascular siderosis: An electron microprobe study
Vascular siderosis (VS) refers to the presence of mineralized small and medium‐sized arteries in the globus pallidus, usually regarded as reflecting an aging process. The electron probe analysis ofExpand
Proliferation of schwann cells in tellurium-induced demyelination in young rats
SummaryThis is a study of DNA synthesis of Schwann cells during the demyelination and the remyelination of peripheral nerves secondary to the intoxication of young rats with tellurium (Te).Expand
Biopsy diagnosis of familial Alexander's disease.
A 26-year-old woman presented with headaches, incoordination and a cerebellar mass (1982). The CT scan revealed dilated ventricles and a hypodense space-occupying lesion adjacent to the fourthExpand