Results 121 to 130 of about 60,943 (273)

Some Biochemical Studies in Retinitis Pigmentosa [PDF]

, 1961
Harry Wagreich, Mortimer A. Lasky, B Elkan   +2 more
openalex   +1 more source

Retinitis pigmentosa-associated cystoid macular oedema: pathogenesis and avenues of intervention

British Journal of Ophthalmology, 2016
Hereditary retinal diseases are now the leading cause of blindness certification in the working age population (age 16–64 years) in England and Wales, of which retinitis pigmentosa (RP) is the most common disorder.
S. Strong, S. Strong, Gerald Liew, M. Michaelides, M. Michaelides   +4 more
semanticscholar   +1 more source

Alternative Splicing Regulation in Metabolic Disorders

Obesity 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

The mechanistic functional landscape of retinitis pigmentosa: a machine learning-driven approach to therapeutic target discovery

Journal of Translational Medicine
Background Retinitis pigmentosa is the prevailing genetic cause of blindness in developed nations with no effective treatments. In the pursuit of unraveling the intricate dynamics underlying this complex disease, mechanistic models emerge as a tool of ...
Marina Esteban-Medina, Carlos Loucera, Kinza Rian, Sheyla Velasco, Lorena Olivares-González, Regina Rodrigo, Joaquin Dopazo, Maria Peña-Chilet   +7 more
doaj   +1 more source

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

Veterinary 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, Yu Sato, Jessica K. Niggel, Emma Ozdogan, Leonardo Murgiano, Keiko Miyadera   +5 more
wiley   +1 more source

B. Hallgren: Retinitis Pigmentosa combined with congenital deafness; with vestibulocerebellar ataxia and mental Abnormality in a Proportion of cases: a Clinical and Genetico-Statistical Study, geh., 97 S., ohne Preis. Ejnar Munksgaard, Kopenhagen, 1959. [PDF]

, 1960
Grebe
openalex   +1 more source

Photoreceptor degeneration has heterogeneous effects on functional retinal ganglion cell types

The Journal of Physiology, EarlyView.
Abstract figure legend Photoreceptor loss has heterogeneous effects on functional retinal ganglion cell (RGC) types. A, illustrations of cross‐sections of rd10 retinae at different time points during degeneration. Left: P30, rod degeneration has commenced, cones are still unaffected.
Nadine Dyszkant, Jonathan Oesterle, Yongrong Qiu, Merle Harrer, Timm Schubert, Dominic Gonschorek, Thomas Euler   +6 more
wiley   +1 more source

Does Unilateral Retinitis Pigmentosa Really Exist? [PDF]

, 1965
H.E. Henkes
openalex   +1 more source

The Two Faces of Pediatric SCA2

European Journal of Neurology, Volume 32, Issue 8, August 2025.
We report 22 children with SCA2 and a review of the literature (20 patients). Two pediatric forms appear to be distinct (infantile and juvenile). Figure created with https://BioRender.com. ABSTRACT Introduction Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurological disease usually described in adults.
Nicolas Rive Le Gouard, Maissa G. Bah, Giulia Coarelli, Anna Heinzmann, Anne‐Laure Fauret, Jean‐Madeleine de Sainte‐Agathe, Cécile Cazeneuve, Anna Gerasimenko, Domitille Gras, Yline Capri, Mathilde Renaud, Bernard Brais, Cecile Grenenko, Alice Masurel, Patrick Berquin, Florence Jobic, Julia Métreau, Kumaran Deiva, Alexandra Afenjar, Victor Gravrand, Annie Lannuzel, Mathieu Anheim, Tobias Geis, Ute Hehr, Jennifer Madan Cohen, Béatrice Desnous, Anneke J. A. Kievit, Nadia Bahi‐buisson, Diana Rodriguez, Florence Renaldo, Claude Cances, David Devos, Chloé Angelini, Cyril Goizet, Claire Ewenczyk, Alexandra Durr, Cyril Mignot   +36 more
wiley   +1 more source

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

Journal of Sleep Research, Volume 34, Issue 4, August 2025.
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, Juriaan R. Metz, H. Myrthe Boss, Rob W. J. Collin, Erik de Vrieze, Erwin van Wijk   +5 more
wiley   +1 more source