Zobrazeno 1 - 10 of 13 pro vyhledávání: '"D G Glaze"'
2
Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes
Autor: R E, Amir, I B, Van den Veyver, R, Schultz, D M, Malicki, C Q, Tran, E J, Dahle, A, Philippi, L, Timar, A K, Percy, K J, Motil, O, Lichtarge, E O, Smith, D G, Glaze, H Y, Zoghbi
Publikováno v: Annals of neurology. 47(5)
We screened 71 sporadic and 7 familial Rett syndrome (RTT) patients for MECP2 mutations by direct sequencing and determined the pattern of X chromosome inactivation (XCI) in 39 RTT patients. We identified 23 different disease-causing MECP2 mutations
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::13364c0be929d2307da04ad01167f981
https://pubmed.ncbi.nlm.nih.gov/10805343
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3
Alpha rhythm slowing during initiation of carbamazepine therapy: implications for future cognitive performance
Autor: J D, Frost, R A, Hrachovy, D G, Glaze, G M, Rettig
Publikováno v: Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society. 12(1)
A prospective study comparing the immediate changes in occipital electroencephalographic (EEG) frequency following institution of carbamazepine therapy to long-term alterations of neuropsychological performance is reported. The patient group consiste
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::1578149c3d7e0c6c71f5538064220f19
https://pubmed.ncbi.nlm.nih.gov/7896910
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4
Coupling of focal electrical seizure discharges with infantile spasms: incidence during long-term monitoring in newly diagnosed patients
Autor: R A, Hrachovy, J D, Frost, D G, Glaze
Publikováno v: Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society. 11(4)
To investigate the coupling of focal electrical seizure discharges (FS) and infantile spasms, we analyzed the video/polygraphic monitoring studies performed on 96 consecutive patients newly diagnosed with infantile spasms and hypsarrhythmic EEGs. A F
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::47cd1ba8a6cbee0964427975727bc9dd
https://pubmed.ncbi.nlm.nih.gov/7962492
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5
Epidemiology of Rett syndrome: a population-based registry
Autor: C A, Kozinetz, M L, Skender, N, MacNaughton, M J, Almes, R J, Schultz, A K, Percy, D G, Glaze
Publikováno v: Pediatrics. 91(2)
The Texas Rett Syndrome Registry maintains the largest population-based registry of cases and potential cases of Rett syndrome in the world. The most precise estimate of the prevalence of Rett syndrome of 1 per 22800 (0.44/10000) females aged 2 throu
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::aa6f196581a83780131c670679d71351
https://pubmed.ncbi.nlm.nih.gov/8424025
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8
Elevated myelin basic protein levels in the cerebrospinal fluid of children with acute lymphoblastic leukemia
Autor: S R Cohen, D J Fernbach, Donald H. Mahoney, D G Glaze
Publikováno v: Journal of Clinical Oncology. 2:58-61
Cerebrospinal fluid was examined from 70 children with acute lymphoblastic leukemia for evidence of active myelin breakdown based on the release of myelin basic protein (MBP). Fifty-three asymptomatic children were followed from diagnosis with serial
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f107438c68f055f13d4a3013c17c498
https://doi.org/10.1200/jco.1984.2.1.58
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