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Spinocerebellar ataxia type 6: Gaze‐evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset
Clinical and quantitative measurement of extraocular movements demonstrated a characteristic pattern of ocular motor and vestibular abnormalities, including horizontal and vertical nystagmus and an abnormal vestibulo‐ocular reflex, which identifies a distinct phenotype associated with this newly recognized form of dominant SCA. Expand
A rostral-caudal concentration gradient in cerebrospinal fluid adrenocorticotropin.
It is suggested that lumbar CSF ACTH-IR concentrations in humans may be interpreted as indexes of ACTH changes at higher levels in the central nervous system. Expand
Characterization of glucuronide metabolites of carbamazepine in human urine by gas chromatography and mass spectrometry.
Glucuronide metabolites of carbamazepine were identified in human urine following chromatography on XAD-2 resin, permethylation, and combined gas chromatography and mass spectrometry with an SE-30 capillary column. Expand
Conjugation of fatty acids to DDT in the rat: possible mechanism for retention.
Palmitic, stearic, oleic, and linoleic fatty acid conjugates ofDDT were retained in vivo in livers and spleens of male and female rats given chronic i.p. injections of DDT and may be a mechanism by which it is retained in the body and ultimately exerts its toxic effect. Expand
Propionyl coenzyme A carboxylase deficiency presenting as non-ketotic hyperglycinaemia.
A 4-month-old girl presented with myoclonic seizures and an electroencephalogram showing hypsarrhythmia. Hyperglycinuria and a cerebrospinal fluid to plasma glycine ratio of 0.2 suggested theExpand
A new N-glucuronide metabolite of carbamazepine
An N-glucuronide metabolite of carbamazepine was identified in the bile of the isolated perfused rat liver by means of permethylation, gas chromatography and mass spectrometry.
Quantifying distortion from ideal closest-packing in a crystal structure with analysis and application.
A parameter, U(cp), that quantifies the distortion of the anion skeleton in a crystal from ideal closest-packing has been developed. It is a measure of the average isotropic displacement of theExpand
Isolation of sterol mutants inChlamydomonas reinhardi: Chromatographic analyses
Several sterol mutants of Chlamydomonas reinhardi were isolated by selecting for single colonies resistant to the polyene antibiotic, nystatin, suggesting that these strains are 22(23)-desaturase mutants. Expand
Systematic generation of all nonequivalent closest-packed stacking sequences of length N using group theory.
An algorithm has been developed that generates all of the nonequivalent closest-packed stacking sequences of length N and a generalized symmetry group, Q approximately equal to D(N) x S(3), is derived to sort these into crystallographic equivalence classes. Expand