Results 121 to 130 of about 60,185 (237)

Some Biochemical Studies in Retinitis Pigmentosa [PDF]

open access: bronze, 1961
Harry Wagreich   +2 more
openalex   +1 more source

Actigraphy‐based assessment of circadian rhythmicity and sleep in patients with Usher syndrome type 2a: A case–control study

open access: yesJournal of Sleep Research, EarlyView.
Patients with Usher syndrome type 2a experience significant sleep disturbances, including increased sleep latency, reduced sleep quality and increased variability in sleep efficiency, manifesting independently of the progressive visual impairment. These findings highlight the need to recognize sleep disturbances as a comorbidity, which is a critical ...
Jessie M. Hendricks   +5 more
wiley   +1 more source

Alternative Splicing Regulation in Metabolic Disorders

open access: yesObesity Reviews, EarlyView.
ABSTRACT Alternative splicing (AS) is a fundamental mechanism for enhancing transcriptome diversity and regulating gene expression, crucial for various cellular processes and the development of complex traits. This review examines the role of AS in metabolic disorders, including obesity, weight loss, dyslipidemias, and metabolic syndrome.
Dorota Kaminska
wiley   +1 more source

Copper metabolism in retinitis pigmentosa. [PDF]

open access: bronze, 1976
DK Gahlot   +4 more
openalex   +1 more source

Exploring standard and low luminance visual acuity and the Moorfields Acuity Chart as outcome measures in inherited retinal disease

open access: yesOphthalmic and Physiological Optics, EarlyView.
Abstract Introduction Standard visual acuity (VA) is often insensitive to subtle changes in vision that result from inherited retinal disease. Low luminance VA (LLVA) has grown in popularity as an alternative acuity measure. A new test, the Moorfields Acuity Chart (MAC) has been designed as a more sensitive and repeatable test for use in patients with ...
Laura J. Taylor   +2 more
wiley   +1 more source

Chronic non-communicable diseases in patients and families with retinitis pigmentosa

open access: yesMedisur, 2023
Background: retinitis pigmentosa, an ocular disease of genetic origin and low prevalence, slowly progresses over years towards severe visual impairment and affects social performance. In the Ophthalmology Service of the Dr.
Raisa Hernández Baguer   +5 more
doaj  

Unilateral retinitis pigmentosa sine pigmento. [PDF]

open access: bronze, 1976
Jerome T. Pearlman   +2 more
openalex   +1 more source

Delayed‐onset cord1 progressive retinal atrophy in English Springer Spaniels genetically affected with the RPGRIP1 variant

open access: yesVeterinary Ophthalmology, EarlyView.
Abstract Objective Cone‐rod dystrophy (cord1) is a form of progressive retinal atrophy. It is linked to an RPGRIP1 genetic variant which is the third most common canine disease variant thus far. While the variant affects various breeds, it is highly prevalent in English Springer Spaniels (ESSs).
Jennifer C. Kwok   +5 more
wiley   +1 more source

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