Results 141 to 150 of about 71,528 (269)

Perception of the Body in Space: Mechanisms [PDF]

open access: yes
The principal topic is the perception of body orientation and motion in space and the extent to which these perceptual abstraction can be related directly to the knowledge of sensory mechanisms, particularly for the vestibular apparatus.
Young, Laurence R.
core   +1 more source

Novel LAMA1 Mutations in a Pedigree With Poretti‐Boltshauser Syndrome: Implications for Hypomyelination

open access: yesMolecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
This study reports novel compound heterozygous LAMA1 variants in two siblings with Poretti‐Boltshauser syndrome presenting with cerebral hypomyelination. It provides the first clinical evidence linking LAMA1 to CNS dysmyelination, expanding the phenotypic spectrum and offering mechanistic insights into this rare association. ABSTRACT Background Poretti‐
Si Huang   +8 more
wiley   +1 more source

A Torque Motor Servorotator for Vestibular Application [PDF]

open access: yes
Torque motor servorotator for vestibular ...
Hixson, W. C., Niven, J. I.
core   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

open access: yesPregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld   +5 more
wiley   +1 more source

Assessment of semicircular canal function. Part 1 - Measurements of subjective effects produced by triangular waveforms of angular velocity [PDF]

open access: yes
Nystagmus and sensation of rotation from semicircular canal stimulation by triangular waveforms of angular ...
Guedry, F. E., Jr.   +2 more
core   +1 more source

MELAS‐Like Mitochondrial Encephalopathy With Catatonia Associated With a Pathogenic MT‐ND3 (m.10158 T > C) Mutation: A Case Report and Literature Review

open access: yesProgress in Neurology and Psychiatry, Volume 30, Issue 2, May 2026.
Abstract Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke‐like episodes (MELAS) is a rare multisystem mitochondrial disorder primarily caused by mutations in mitochondrial DNA. While it typically presents with stroke‐like episodes, seizures, and lactic acidosis, recent evidence highlights a broader clinical spectrum, including ...
Faezeh Khorshidian   +3 more
wiley   +1 more source

Longitudinal Study of Plasma NFL and GFAP as Biomarkers of Alcohol Withdrawal–Associated Brain Injury

open access: yesAddiction Biology, Volume 31, Issue 5, May 2026.
Brain injury could occur within the first days of alcohol withdrawal, especially in patients with severe pharmacological dependence. Plasma NFL and GFAP are promising biomarkers of alcohol withdrawal‐related brain pathology. ABSTRACT Plasma neurofilament light chain (NFL), glial fibrillary acidic protein (GFAP), tau protein and ubiquitin carboxy ...
Virgile Clergue‐Duval   +14 more
wiley   +1 more source

Congenital aniridia: European COST action ANIRIDIA‐NET guidelines for diagnosis, management and care

open access: yesActa Ophthalmologica, Volume 104, Issue 3, Page 267-279, May 2026.
Abstract Congenital aniridia is a rare ocular disorder affecting the majority of eye structures and can be associated with systemic manifestations. The main visible phenotypic characteristic is the partial or complete absence of the iris; however, foveal hypoplasia is a more frequent and reliable clinical sign. Other ocular comorbidities are associated
Davide Romano   +26 more
wiley   +1 more source

Differentiating Atypical BPPV from Central Positional Vertigo: A Narrative Review. [PDF]

open access: yesNeuroSci
Sideris G   +5 more
europepmc   +1 more source

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