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Year Number of Results
1978 1
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2003 3
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2006 4
2007 4
2008 3
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2012 5
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61 results

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Page 1
Leukodystrophies.
Perlman SJ, Mar S. Perlman SJ, et al. Adv Exp Med Biol. 2012;724:154-71. doi: 10.1007/978-1-4614-0653-2_13. Adv Exp Med Biol. 2012. PMID: 22411242 Review.
Though the ultimate diagnosis is not found in many patients with leukodystrophies, distinctive features unique to them aid in diagnosis, treatment and prognostication. The clinical characteristics, etiologies, diagnostic testing and treatment options are reviewed in detail …
Though the ultimate diagnosis is not found in many patients with leukodystrophies, distinctive features unique to them aid in diagnosis, tre …
Type I Alexander disease: Update and validation of the clinical evolution-based classification.
Vaia Y, Mura E, Tonduti D. Vaia Y, et al. Mol Genet Metab. 2023 Mar;138(3):107540. doi: 10.1016/j.ymgme.2023.107540. Epub 2023 Feb 10. Mol Genet Metab. 2023. PMID: 36804850 Review.
Recently, we proposed a new classification, which is based on taking into consideration not only the presenting features, but also data related to the clinical course. In this study, we tried to apply this modified classification system to the cases of pediatric-onset AxD …
Recently, we proposed a new classification, which is based on taking into consideration not only the presenting features, but also data rela …
Leukodystrophies with astrocytic dysfunction.
Rodriguez D. Rodriguez D. Handb Clin Neurol. 2013;113:1619-28. doi: 10.1016/B978-0-444-59565-2.00030-7. Handb Clin Neurol. 2013. PMID: 23622383 Review.
Mutations in MLC1, which is mainly expressed in astrocyte endfeet, produce megalencephaly, whereas the mild clinical course contrasts with severe MRI features. An increased concentration of NAA in the urine is sufficient to diagnose Canavan disease, which is due to mutatio …
Mutations in MLC1, which is mainly expressed in astrocyte endfeet, produce megalencephaly, whereas the mild clinical course contrasts …
Translational potential of astrocytes in brain disorders.
Verkhratsky A, Steardo L, Parpura V, Montana V. Verkhratsky A, et al. Prog Neurobiol. 2016 Sep;144:188-205. doi: 10.1016/j.pneurobio.2015.09.003. Epub 2015 Sep 16. Prog Neurobiol. 2016. PMID: 26386136 Free PMC article. Review.
Here, we challenge this neuron-centric view and present neuroglia as a key element in neuropathology, a process that has a toll on astrocytes, which undergo complex morpho-functional changes that can in turn affect the course of the disorder. Such changes can be grossly id …
Here, we challenge this neuron-centric view and present neuroglia as a key element in neuropathology, a process that has a toll on astrocyte …
Alexander's disease: reassessment of a neonatal form.
Singh N, Bixby C, Etienne D, Tubbs RS, Loukas M. Singh N, et al. Childs Nerv Syst. 2012 Dec;28(12):2029-31. doi: 10.1007/s00381-012-1868-8. Epub 2012 Aug 14. Childs Nerv Syst. 2012. PMID: 22890470 Review.
RESULTS AND DISCUSSION: Though the neonatal form of Alexander disease is not well acknowledged, a uniform and distinct presentation of the disease in neonates has been observed, suggesting the need for a different course of identification and treatment. Clinical presentati …
RESULTS AND DISCUSSION: Though the neonatal form of Alexander disease is not well acknowledged, a uniform and distinct presentation of the d …
Acquisition and Loss of Developmental Milestones and Time to Disease-Related Outcomes in Cerebral Alexander Disease.
Joung J, Gallison K, Sollee JJ, Vigilante N, Cooper H, Liu GW, Ballester L, Faig W, Waldman AT. Joung J, et al. J Child Neurol. 2023 Dec;38(13-14):672-678. doi: 10.1177/08830738231210040. Epub 2023 Nov 3. J Child Neurol. 2023. PMID: 37920915
Loss of independent ambulation occurred in 11 of the 34 (32%) children who had acquired ambulation (range 3.41-15.10 years). Presence of seizures or macrocephaly did not predict the achievement or loss of ambulation. Conclusions: The clinical triad of developmental delay, …
Loss of independent ambulation occurred in 11 of the 34 (32%) children who had acquired ambulation (range 3.41-15.10 years). Presence of sei …
Prediction of clinical progression in nervous system diseases: plasma glial fibrillary acidic protein (GFAP).
Zheng X, Yang J, Hou Y, Shi X, Liu K. Zheng X, et al. Eur J Med Res. 2024 Jan 12;29(1):51. doi: 10.1186/s40001-023-01631-4. Eur J Med Res. 2024. PMID: 38216970 Free PMC article. Review.
The reason plasma GFAP could serve as a promising biomarker for diagnosis and prediction of Alzheimer's disease (AD) is that it effectively distinguished AD dementia from multiple neurodegenerative diseases and predicted the individual risk of AD progression. ...Thi …
The reason plasma GFAP could serve as a promising biomarker for diagnosis and prediction of Alzheimer's disease (AD) is that it effec …
Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature.
Pareyson D, Fancellu R, Mariotti C, Romano S, Salmaggi A, Carella F, Girotti F, Gattellaro G, Carriero MR, Farina L, Ceccherini I, Savoiardo M. Pareyson D, et al. Brain. 2008 Sep;131(Pt 9):2321-31. doi: 10.1093/brain/awn178. Epub 2008 Aug 6. Brain. 2008. PMID: 18684770 Review.
Less frequent findings include sleep disorders and dysautonomia. Fluctuations may occur. The course is variable, usually slowly progressive and less severe than the AD forms with earlier onset. ...
Less frequent findings include sleep disorders and dysautonomia. Fluctuations may occur. The course is variable, usually slowly progr …
61 results