Results 101 to 110 of about 5,681 (206)
Brain magnetic resonance imaging (MRI) pattern recognition in Pol III-related leukodystrophies
, 2014 Pol III-related leukodystrophies are caused by mutations in POLR3A and POLR3B genes and all share peculiar imaging and clinical features. The objectives of this study are (1) to define the neuroradiologic pattern in a cohort of POLR3A and POLR3B subjects
H. Dressman +7 more
core +1 more source
Glia, Volume 74, Issue 10, October 2026.Cell type–specific EVs were isolated from mouse brain and profiled by proteomics. Each EV subtype exhibited proteomic signatures consistent with the specialized functions of its cell of origin. Astrocyte‐derived EVs (ADEVs) were enriched for the GlialCAM/MLC1 network and GPCRs.
Alba M. Lucart‐Sanchez +7 more
wiley +1 more source
Contribution of Conventional and Quantitative MRI in Leukodystrophies [PDF]
We explored the contribution of magnetic resonance imaging (MRI) in leukodystrophies. Leukodystrophies are genetic diseases mainly affecting the white matter of the central nervous system.
Stellingwerff, Menno Daniël
core +1 more source
Adult-onset adrenoleukodystrophy presenting as a psychiatric disorder: MRI findings
Dementia & NeuropsychologiaA 35-year-old, previously healthy man presented psychiatric symptoms lasting four years, receiving treatment with neuroleptics. One year later he evolved with gait disequilibrium.
Antonio Cézar Ribeiro Galvão +4 more
doaj +1 more source
Overview of Neuro-Ophthalmic Findings in Leukodystrophies
Background: Leukodystrophies are a group of rare genetic diseases that primarily affect the white matter of the central nervous system. The broad spectrum of metabolic and pathological causes leads to manifestations at any age, most often in childhood ...
Jonas Denecke +17 more
core +1 more source
Clinical and Genetic Characteristics of Leukodystrophies in Africa
, 2017 Recent understanding of the genetic basis of neurological disorders in Africa has grown rapidly in the last two decades. Africa harbors the largest genetic repertoire in the world which gives unique opportunity to discover novel variant, genes, and ...
Liena Elsayed +2 more
core +1 more source
Gene therapy for leukodystrophies
, 2011 Leukodystrophies (LDs) refer to a group on inherited diseases in which molecular abnormalities of glial cells are responsible for exclusive or predominant defects in myelin formation and/or maintenance within the central and, sometimes, the peripheral ...
Aubourg P., Cartier N., Biffi A.
core +1 more source
Assessing Chitinases and Neurofilament Light Chain as Biomarkers for Adult-Onset Leukodystrophies
Current Issues in Molecular BiologyLeukodystrophies represent a large and complex group of inherited disorders affecting the white matter of the central nervous system. Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare leukodystrophy which still ...
Paulo de Lima Serrano +13 more
doaj +1 more source
Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies
, 2017 Leukodystrophies are a broad class of genetic disorders that result in disruption or destruction of central myelination. Although the mechanisms underlying these disorders are heterogeneous, there are many common symptoms that affect patients ...
Eichler, Florian +86 more
core +1 more source