Results 41 to 50 of about 24,692 (277)
BMC Pediatrics, 2019 Background POLR3-related leukodystrophy is an autosomal recessive neurodegenerative disorder characterized by onset time ranging from the neonatal period to late childhood, progressive motor decline that manifests as spasticity, ataxia, tremor, and ...
Shuiyan Wu +7 more
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MicroRNA-23a promotes myelination in the central nervous system. [PDF]
, 2013 Demyelinating disorders including leukodystrophies are devastating conditions that are still in need of better understanding, and both oligodendrocyte differentiation and myelin synthesis pathways are potential avenues for developing treatment ...
Fu, Ying-Hui +5 more
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Frontiers in Cellular Neuroscience, 2022 Hematopoietic stem cells have been investigated and applied for the treatment of certain neurological disorders for a long time. Currently, their therapeutic potential is harnessed in autologous and allogeneic hematopoietic stem cell transplantation ...
Pedro de Vasconcelos +2 more
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Clinical and genetic characterization of leukoencephalopathies in adults [PDF]
, 2017 Leukodystrophies and genetic leukoencephalopathies are a rare group of disorders leading to progressive degeneration of cerebral white matter. They are associated with a spectrum of clinical phenotypes dominated by dementia, psychiatric changes, movement
Adams, M +28 more
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Hereditary leukoencephalopathy with axonal spheroids: a spectrum of phenotypes from CNS vasculitis to parkinsonism in an adult onset leukodystrophy series [PDF]
, 2015 Background: Hereditary diffuse leukoencephalopathy with neuroaxonal spheroids (HDLS) is a hereditary, adult onset leukodystrophy which is characterised by the presence of axonal loss, axonal spheroids and variably present pigmented macrophages on ...
Bajaj, Nin +16 more
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HDAC-6 inhibition ameliorates the early neuropathology in a mouse model of Krabbe disease
Frontiers in Molecular Neuroscience, 2023 IntroductionIn Krabbe disease (KD), mutations in β-galactosylceramidase (GALC), a lysosomal enzyme responsible for the catabolism of galactolipids, leads to the accumulation of its substrates galactocerebroside and psychosine.
Sandra O. Braz +8 more
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inPHAP: Interactive visualization of genotype and phased haplotype data [PDF]
, 2014 Background: To understand individual genomes it is necessary to look at the variations that lead to changes in phenotype and possibly to disease. However, genotype information alone is often not sufficient and additional knowledge regarding the phase of ...
Jäger, Günter +2 more
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Journal of Clinical Endocrinology and Metabolism, 2020 Context 4H or POLR3-related leukodystrophy is an autosomal recessive disorder typically characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism, caused by biallelic pathogenic variants in POLR3A, POLR3B, POLR1C, and POLR3K.
Félixe +149 more
semanticscholar +1 more source
Minor Loops in Major Folds: Enhancer-Promoter Looping, Chromatin Restructuring, and Their Association with Transcriptional Regulation and Disease. [PDF]
, 2015 The organization and folding of chromatin within the nucleus can determine the outcome of gene expression. Recent technological advancements have enabled us to study chromatin interactions in a genome-wide manner at high resolution.
Ahituv, Nadav, Matharu, Navneet
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Seminars in Pediatric Neurology, 1995 The clinicopathologic profiles of the major leukodystrophies (adreno-leukodystrophy, metachromatic leukodystrophy, globoid cell leukodystrophy or Krabbe's disease, Pelizaeus-Merzbacher disease, and spongy degeneration of infancy or Canavan's disease) are reviewed.
J M, Powers, A, Rubio
openaire +2 more sources