Results 71 to 80 of about 1,172,899 (298)
Central Dysmyelination in SSADH‐Deficient Humans and Mice
ABSTRACT Objectives Succinic semialdehyde dehydrogenase deficiency (SSADHD) is an inherited metabolic disorder characterized by an accumulation of γ‐aminobutyric (GABA). In addition to its synaptic role as an inhibitory neurotransmitter, GABA also plays an important role in myelination.
Itay Tokatly Latzer+11 more
wiley +1 more source
The rs10191329 Risk Allele Is Associated With Pronounced Retinal Layer Atrophy in Multiple Sclerosis
ABSTRACT Objective To investigate whether the rs10191329 risk allele in the DYSF–ZNF638 locus, which is implicated in central nervous system resilience rather than immune‐mediated pathology, is associated with retinal layer thinning, a biomarker of neuroaxonal damage in relapsing multiple sclerosis (RMS). Methods From a prospective observational study,
Gabriel Bsteh+22 more
wiley +1 more source
ABSTRACT Objective Neurodegeneration with brain iron accumulation (NBIA) comprises rare genetic disorders characterized by predominantly extrapyramidal symptoms and iron deposition in the basal ganglia. Conventional magnetic resonance imaging (MRI) detects qualitative changes but cannot accurately quantify iron accumulation. Quantitative susceptibility
Özge Uygun+19 more
wiley +1 more source
"In this edition the text has again been revised. No great changes have been made, but there have been some additions to the text and illustrations"-Pref. ; "Printed in Great Britain." ; Some plates accompanied by guard sheet with descriptive letterpress. ; Mode of access: Internet.
openaire +3 more sources
SARS-CoV-2 and the Eye: A Relationship for a Possible Prognostic Tool in COVID-19 Patients
Rosario Gulias-Cañizo,1 Estela D’Abril Ruíz-Leyja,2 Valeria Sánchez-Huerta,2 Lenin Ochoa-de la Paz2,3 1Facultad de Ciencias de la Salud, Universidad Anáhuac México, Huixquilucan, Edo.
Gulias-Cañizo R+3 more
doaj
The glomerular filtration barrier (GFB) is the first step of blood filtration by the kidneys. The concerning increase of kidney diseases makes the development of new models essential. In this context, microphysiological glomerular filtration barriers focus on closely reproducing the physiological architecture of the in vivo GFB: podocytes, glomerular ...
Manon Miran+5 more
wiley +1 more source
The Molecular Basis of Human Anophthalmia and Microphthalmia
Human eye development is coordinated through an extensive network of genetic signalling pathways. Disruption of key regulatory genes in the early stages of eye development can result in aborted eye formation, resulting in an absent eye (anophthalmia) or ...
Philippa Harding, Mariya Moosajee
doaj +1 more source
The Origin of a New Eye-Color in Drosophila repleta and Its Behavior in Heredity [PDF]
Roscoe R. Hyde
openalex +1 more source
Primary phases and a fatigue crack are studied in a forged blank of an aluminum alloy using synchrotron and laboratory X‐ray computed tomography. To image the crack, the fatigue test is interrupted, and a static tensile load is applied to open the crack.
Jakob Schröder+6 more
wiley +1 more source
An Eye for an Eye; A Tooth for a Tooth
A 24-year-old man experienced the sudden onset of a painless superior-temporal visual field defect of the left eye. Fundoscopy showed peripapillary pigmentary changes and a few nasal retinal white spots. Automated perimetry demonstrated an enlarged blind spot.
Departments of Ophthalmology ( host institution )+3 more
openaire +4 more sources