Results 121 to 130 of about 103,722 (368)
Australian Veterinary Journal, EarlyView.Nearly all cases of cryptococcosis in koalas are caused by Cryptococcus gattii species complex. A rare case of meningitis due to Cryptococcus neoformans VNI/AFLP1 (abbreviated VNI) is described in a koala with nasal colonisation by both species complexes.
A Teh +6 more
wiley +1 more source
International Journal of Otolaryngology, 2012 The aim of this study is to verify the hypothesis that free-floating particles could sometimes localize into the distal portion of the non ampullary arm of the posterior semicircular canal (PSC) so that assuming the Dix-Hallpike's positions, the clot ...
P. Vannucchi, R. Pecci, B. Giannoni
semanticscholar +1 more source
Clinical Genetics, EarlyView.Variants in the DNM1 gene cause a progressive cone‐rod synaptic dysfunction, evidenced by the electroretinogram. This is due to retinal synaptic abnormality due to poor endocytic scission of synaptic buds at the synapse consequent on Dynamin‐1 abnormalities.
Oliver R. Marmoy +3 more
wiley +1 more source
Causes and Treatment of Congenital Eccentric Nystagmus [PDF]
, 1953 Jonathan Anderson
openalex +1 more source
The Natural Course of Bosch‐Boonstra‐Schaaf Optic Atrophy Syndrome
Clinical Genetics, EarlyView.Here, we present data on genetic variants and phenotype development of 47 individuals with Bosch‐Boonstra‐Schaaf optic atrophy syndrome, a rare neurodevelopmental disorder, highlighting the fact that the disease does not appear to be fundamentally progressive.
Ilia Valentin +4 more
wiley +1 more source
Instruments and attachments for electronystagmography [PDF]
A portable set of instruments and devices was developed which makes it possible to record spontaneous nystagmus with open and closed eyes.
Mironenko, Y. T., Vilenskiy, A. A.
core +1 more source
Clinical Genetics, EarlyView.Our Translational Loop integrates patient genetic data with Drosophila models to study disease mechanisms. We identified ACO2 variants in a patient linked to ICRD and show that our animal model mirrors key aspects of the disease. These insights help pinpoint therapeutic targets, advancing research toward treatments for rare genetic disorders.
Edgar Buhl +15 more
wiley +1 more source
Clinical Genetics, EarlyView.Key features of paralogous GRIA2 and GRIA3 gain‐of‐function variants. ABSTRACT GRIA‐related disorders arise from disease‐causing variants in GRIA1, GRIA2, GRIA3, or GRIA4 that encode α‐amino‐3‐hydroxy‐5‐methyl‐4‐isoxazole propionic acid (AMPA)‐type glutamate receptors (AMPARs).
Emilie Sjøstrøm +24 more
wiley +1 more source
Nystagmus in enlarged vestibular aqueduct: a case series
Audiology Research, 2015 Enlarged vestibular aqueduct (EVA) is one of the commonly identified congenital temporal bone abnormalities associated with sensorineural hearing loss.
Judith White, Paul Krakovitz
doaj +1 more source