Infantile Alexander disease with late onset infantile spasms and hypsarrhythmia
Balkan Journal of Medical Genetics, 2019 Alexander disease (AxD) is a rare autosomal dominant leukodystrophy with three clinical subtypes: infantile, juvenile and adult. Forms differ by age of symptoms occurrence and the clinical presentation.
Paprocka J +4 more
doaj +1 more source
The Unity of Aristotle\u2019s Metaphysics: Book \u395 according to the Interpretation of the Ancient Commentators [PDF]
, 2018 This paper discusses the three ancient commentaries on Book E of Aristotle\u2019s Metaphysics, that have been handed down to us. It aims to demonstrate the fundamental part played by their particular interpretation of Aristotle\u2019s doctrines in the ...
Salis, RITA MARIA GAVINA
core +2 more sources
Lessons Learned: Quality Analysis of Optical Coherence Tomography in Neuromyelitis Optica
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Introduction Optical coherence tomography (OCT)‐derived retina measurements are markers for neuroaxonal visual pathway status. High‐quality OCT scans are essential for reliable measurements, but their acquisition is particularly challenging in eyes with severe visual impairment, as often observed in neuromyelitis optica spectrum disorders ...
Hadi Salih +40 more
wiley +1 more source
Recessively‐Inherited Adult‐Onset Alexander Disease Caused by a Homozygous Mutation in the GFAP Gene
Movement Disorders, 2020 Alexander disease (AxD) is an autosomal‐dominant leukodystrophy caused by heterozygous mutations in the glial fibrillary acidic protein (GFAP) gene.
M. Fu +9 more
semanticscholar +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To compare the effectiveness and safety of tenecteplase (TNK) versus alteplase (TPA) in patients with basilar artery occlusion prior to endovascular treatment (EVT). Methods In this retrospective multicenter study (BAO‐TNK), we analyzed consecutive BAO patients from 14 U.S.
Rahul R. Karamchandani +38 more
wiley +1 more source
Non cell autonomous upregulation of CDKN2 transcription linked to progression of chronic hepatitis C disease [PDF]
, 2013 Chronic hepatitis C virus infection (C-HC) is associated with higher mortality arising from hepatic and extrahepatic disease. This may be due to accelerated biological aging; however, studies in C-HC have thus far been based solely on telomere length as ...
Barclay, Stephen +7 more
core +2 more sources
bioRxiv, 2019 Alexander disease results from gain of function mutations in the gene encoding glial fibrillary acidic protein (GFAP), an intermediate filament protein expressed in astrocytes.
G. Helman +17 more
semanticscholar +1 more source
Alexander Disease Modeling in Zebrafish: An In Vivo System Suitable to Perform Drug Screening
Genes, 2020 Alexander disease (AxD) is a rare astrogliopathy caused by heterozygous mutations, either inherited or arising de novo, on the glial fibrillary acid protein (GFAP) gene (17q21).
S. Candiani +11 more
semanticscholar +1 more source
Frailty Exacerbates Disability in Progressive Multiple Sclerosis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background To evaluate frailty in severe progressive multiple sclerosis (PMS) and to investigate the underlying mechanisms. Methods This prospective, cross‐sectional, multicenter study enrolled a late severe PMS group requiring skilled nursing (n = 53) and an age, sex, and disease duration‐matched control PMS group (n = 53).
Taylor R. Wicks +10 more
wiley +1 more source
Using neurite orientation dispersion and density imaging and tracts constrained by underlying anatomy to differentiate between subjects along the Alzheimer's disease continuum [PDF]
, 2019 OBJECTIVE: To assess the involvement of the white matter of the brain in the pathology of Alzheimer’s disease. Using Neurite Orientation Density and Dispersion Imaging (NODDI) and the probabilistic white matter parcellation tool Tracula as a means for ...
Zhang, Zannan
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