Zobrazeno 1 - 10
of 72
pro vyhledávání: '"M. R. Del Bigio"'
Publikováno v:
Paediatrics Publications
Introduction and objectives Rett Syndrome (RTT) is a neurodevelopmental disorder caused by Methyl CpG Binding Protein 2 (MECP2) gene mutations. Previous studies of MeCP2 in the human brain showed variable and inconsistent mosaic-pattern immunolabelli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::589b2e0dc0c50d1a0cf1875d0da0a891
https://ir.lib.uwo.ca/paedpub/420
https://ir.lib.uwo.ca/paedpub/420
Autor:
Sherry Krawitz, M. R. Del Bigio
Publikováno v:
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. 46:S62-S63
Hypochondroplasia, achondroplasia, and thanatophoric dysplasia are related at the molecular level, all caused by fibroblast growth factor receptor 3 (FGFR3) gene mutations. They differ in severity. FGFR3 has critical roles in fibroblast growth factor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9ce4e60f493837482113d64ded3f9952
https://doi.org/10.1017/cjn.2019.262
https://doi.org/10.1017/cjn.2019.262
Autor:
Benedict C. Albensi, M. Z. Kastyak-Ibrahim, Carol J. Hirschmugl, Kathleen M. Gough, Michael J. Nasse, M. R. Del Bigio, M. Rak
Publikováno v:
NeuroImage. 60:376-383
The critical questions into the cause of neural degeneration, in Alzheimer disease and other neurodegenerative disorders, are closely related to the question of why certain neurons survive. Answers require detailed understanding of biochemical change
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::040d14bf6f3443e01b1dd65951f350b3
https://doi.org/10.1016/j.neuroimage.2011.11.069
https://doi.org/10.1016/j.neuroimage.2011.11.069
Publikováno v:
Journal of Inherited Metabolic Disease. 27:819-824
Glutaric acidaemia type I (GA I) is caused by the deficiency of glutaryl-CoA dehydrogenase, resulting in accumulation of glutaric acid (GA) and 3- hydroxyglutaric acid (3-OH-GA) in blood and cerebrospinal fluid (CSF). Neuropathological changes with o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::306fae3c2e18c69609009e60d6a9853d
https://doi.org/10.1023/b:boli.0000045764.14721.b6
https://doi.org/10.1023/b:boli.0000045764.14721.b6
Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers
Autor:
Paul J. Hagerman, Randi J Hagerman, M. R. Del Bigio, Claudia M. Greco, Albert E. Chudley, Maureen A. Leehey, Flora Tassone, Sébastien Jacquemont
Publikováno v:
Brain. 125:1760-1771
A neurological syndrome involving progressive action tremor with ataxia, cognitive decline and generalized brain atrophy has been described recently in some adult males with pre-mutation alleles of the fragile X syndrome (FXS) fragile X mental retard
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b0c9ae75c4a02605d26005e5c353314
https://doi.org/10.1093/brain/awf184
https://doi.org/10.1093/brain/awf184
Autor:
P. Orr, M. R. Del Bigio, James B. Johnston, R. McKenna, Christopher Power, R.T. Ross, Seyed M. Mirsattari
Publikováno v:
Scopus-Elsevier
Background: MS is common in people of northern European ethnicity who live in northern geographic areas; however, MS is rarely identified among aboriginal peoples living in the same areas. Objectives: To determine the prevalence, clinical features, H
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38c56c89f6da1f5845cffbdb09fe6173
https://doi.org/10.1212/wnl.56.3.317
https://doi.org/10.1212/wnl.56.3.317
Publikováno v:
Experimental Neurology. 167:272-281
We examined whether following a hypoxic–ischemic insult in young animals there are long-lasting functional deficits that correlate either to histological tissue damage or to potential compensatory plasticity changes. Four-week-old rats were subject
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23ae16682609e7314f11e56193ac420b
https://doi.org/10.1006/exnr.2000.7565
https://doi.org/10.1006/exnr.2000.7565
Autor:
M. R. Del Bigio
Publikováno v:
Pediatric Neurosurgery. 34:172-181
A personal perspective on the study of experimental models of hydrocephalus is offered. Many animal models are available; each has its own advantages and disadvantages. Detailed study of more than one model is needed to clarify the pathogenesis of hy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21b67baa28cbd2369cc658ba66793b6b
https://doi.org/10.1159/000056016
https://doi.org/10.1159/000056016
Autor:
Christopher Power, M. R. Del Bigio, W. Ni, J. B. Johnston, Mengzhou Xue, James Peeling, Michael Mayne, Hui-Jin Yan
Publikováno v:
Scopus-Elsevier
Background and Purpose —Tumor necrosis factor-α (TNF-α) expression is increased in brain after cerebral ischemia, although little is known about its abundance and role in intracerebral hemorrhage (ICH). A TNF-α–specific antisense oligodeoxynuc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5d0f40ece7155ecc0cea7f75edec81f
https://doi.org/10.1161/01.str.32.1.240
https://doi.org/10.1161/01.str.32.1.240
Autor:
Richard Buist, James Peeling, W. Ni, Christopher Power, M. R. Del Bigio, M. R. Dawood, James B. Johnston
Publikováno v:
Scopus-Elsevier
Feline immunodeficiency virus (FIV) is a lentivirus that causes immune suppression and neurological disease in cats. Among animal viruses, individual viral strains have been shown to be neurovirulent, but the role of viral strain specificity among le
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ede57f2d359678049cd3a1a8afd83a9
https://doi.org/10.1128/jvi.72.11.9109-9115.1998
https://doi.org/10.1128/jvi.72.11.9109-9115.1998