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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1997 1
2006 2
2008 1
2009 1
2010 1
2013 1
2015 3
2016 4
2017 1
2019 2
2020 3
2021 2
2023 1
2024 1

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Page 1
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.
Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR. Ashrafi MR, et al. Expert Rev Neurother. 2020 Jan;20(1):65-84. doi: 10.1080/14737175.2020.1699060. Epub 2019 Dec 12. Expert Rev Neurother. 2020. PMID: 31829048 Review.
New genetic methods and stem cell transplantation are also under investigation to further increase the quality and duration of life in affected population.Expert opinion: The improvements in molecular diagnostic tools allow us to identify the meticulous underlying etiology of leu …
New genetic methods and stem cell transplantation are also under investigation to further increase the quality and duration of life in affec …
Proteolytic processing of Neuregulin-1.
Willem M. Willem M. Brain Res Bull. 2016 Sep;126(Pt 2):178-182. doi: 10.1016/j.brainresbull.2016.07.003. Epub 2016 Jul 5. Brain Res Bull. 2016. PMID: 27393467 Review.
Neuregulin-1 was identified as a major physiological substrate of BACE1 during early postnatal development when similarities in BACE1 KO mice and NRG1 heterozygous mice were discovered. Both display severe hypomyelination of peripheral nerves. Later it was shown with genet …
Neuregulin-1 was identified as a major physiological substrate of BACE1 during early postnatal development when similarities in BACE1 KO mic …
RARS1-related developmental and epileptic encephalopathy.
Wan L, Yu D, Li Z, Liu X, Liang Y, Yan H, Zhu G, Zhang B, Yang G. Wan L, et al. Epilepsia Open. 2023 Sep;8(3):867-876. doi: 10.1002/epi4.12751. Epub 2023 May 5. Epilepsia Open. 2023. PMID: 37186453 Free PMC article. Review.
OBJECTIVE: Biallelic variants of RARS1, a gene that encodes the cytoplasmic tRNA synthetase for arginine (ArgRS), are associated with central nervous system (CNS) manifestations, such as hypomyelinating leukodystrophy-9 and developmental and epileptic encephalopathy …
OBJECTIVE: Biallelic variants of RARS1, a gene that encodes the cytoplasmic tRNA synthetase for arginine (ArgRS), are associated with centra …
Hypomyelinating leukodystrophies - unravelling myelin biology.
Wolf NI, Ffrench-Constant C, van der Knaap MS. Wolf NI, et al. Nat Rev Neurol. 2021 Feb;17(2):88-103. doi: 10.1038/s41582-020-00432-1. Epub 2020 Dec 15. Nat Rev Neurol. 2021. PMID: 33324001 Review.
Hypomyelinating leukodystrophies constitute a subset of genetic white matter disorders characterized by a primary lack of myelin deposition. ...Improved understanding of the process of myelination, the metabolic axonal support functions of myelin and the proposed contribut …
Hypomyelinating leukodystrophies constitute a subset of genetic white matter disorders characterized by a primary lack of myelin depo …
Aberrant Oligodendrogenesis in Down Syndrome: Shift in Gliogenesis?
Reiche L, Küry P, Göttle P. Reiche L, et al. Cells. 2019 Dec 7;8(12):1591. doi: 10.3390/cells8121591. Cells. 2019. PMID: 31817891 Free PMC article. Review.
Neuropathological changes of DS brains are characterized by a reduction in the number of neurons and oligodendrocytes, accompanied by hypomyelination and astrogliosis. Recent studies mainly focused on neuronal development in DS, but underestimated the role of glial cells a …
Neuropathological changes of DS brains are characterized by a reduction in the number of neurons and oligodendrocytes, accompanied by hyp …
Concise Review: Stem Cell-Based Treatment of Pelizaeus-Merzbacher Disease.
Osorio MJ, Rowitch DH, Tesar P, Wernig M, Windrem MS, Goldman SA. Osorio MJ, et al. Stem Cells. 2017 Feb;35(2):311-315. doi: 10.1002/stem.2530. Epub 2016 Nov 23. Stem Cells. 2017. PMID: 27882623 Free PMC article. Review.
PMD exhibits phenotypic variability that reflects its considerable genotypic heterogeneity, but all forms of the disease result in central hypomyelination, associated in most cases with early neurological dysfunction, progressive deterioration, and ultimately death. ...A n …
PMD exhibits phenotypic variability that reflects its considerable genotypic heterogeneity, but all forms of the disease result in central …
Inborn errors of brain myelin formation.
Boespflug-Tanguy O. Boespflug-Tanguy O. Handb Clin Neurol. 2013;113:1581-92. doi: 10.1016/B978-0-444-59565-2.00027-7. Handb Clin Neurol. 2013. PMID: 23622380 Review.
Inborn errors of brain myelin formation or hypomyelinating leukodystrophies (HLD) represent a heterogeneous group of white matter diseases related to a primitive impairment of oligodendrocytes to produce myelin in the central nervous system (CNS). ...The X-linked HD …
Inborn errors of brain myelin formation or hypomyelinating leukodystrophies (HLD) represent a heterogeneous group of white matter dis …
Cholesterol in myelin biogenesis and hypomyelinating disorders.
Saher G, Stumpf SK. Saher G, et al. Biochim Biophys Acta. 2015 Aug;1851(8):1083-94. doi: 10.1016/j.bbalip.2015.02.010. Epub 2015 Feb 24. Biochim Biophys Acta. 2015. PMID: 25724171 Review.
Moreover, disorders that interfere with sterol synthesis or intracellular trafficking of cholesterol and other lipids cause hypomyelination and neurodegeneration. This review summarizes recent results on the roles of cholesterol in CNS myelin biogenesis in normal de …
Moreover, disorders that interfere with sterol synthesis or intracellular trafficking of cholesterol and other lipids cause hypomyelinati …
Thyroid Hormone Signaling in Oligodendrocytes: from Extracellular Transport to Intracellular Signal.
Lee JY, Petratos S. Lee JY, et al. Mol Neurobiol. 2016 Nov;53(9):6568-6583. doi: 10.1007/s12035-016-0013-1. Epub 2016 Jul 18. Mol Neurobiol. 2016. PMID: 27427390 Review.
Thyroid hormone plays an important role in central nervous system (CNS) development, including the myelination of variable axonal calibers. ...In this review, we discuss the known and potential thyroid hormone signaling pathways that may regulate oligodendrocyte developmen …
Thyroid hormone plays an important role in central nervous system (CNS) development, including the myelination of variable axonal cal …
Oligodendrocytes and myelination: the role of iron.
Todorich B, Pasquini JM, Garcia CI, Paez PM, Connor JR. Todorich B, et al. Glia. 2009 Apr 1;57(5):467-78. doi: 10.1002/glia.20784. Glia. 2009. PMID: 18837051 Review.
Although the brain has a relatively high rate of oxygen consumption compared to other organs, oligodendrocytes are the principal cells in the CNS that stain for iron under normal conditions. The importance of iron in myelin production has been demonstrated by studies showi …
Although the brain has a relatively high rate of oxygen consumption compared to other organs, oligodendrocytes are the principal cells in th …
20 results