Results 51 to 60 of about 8,801 (220)

Loss of ANK3 Function Causes a Recessive Neurodevelopmental Disorder with Cerebellar Ataxia

Movement Disorders, Volume 40, Issue 11, Page 2531-2537, November 2025.
Abstract Background ANK3 encodes ankyrin‐G, a key scaffolding protein essential for neuronal function. While both monoallelic and biallelic ANK3 variants have been linked to neurodevelopmental disorders (NDDs), existing evidence for their pathogenicity and clinical correlation remains limited and heterogeneous.
Reza Maroofian, Giulia Spoto, Dalila Moualek, Maha S. Zaki, Asthik Biswas, Felice D'Arco, Sajjad Biglari, Pooneh Nikuei, Joseph G. Gleeson, Meriem Tazir, Lamia Ali Pacha, Henry Houlden   +11 more
wiley   +1 more source

Looking at Burning Mouth Syndrome Brain: The Prevalence of Idiopathic Intracranial Hypertension Radiologic Signs in BMS Patients

Journal of Oral Rehabilitation, Volume 52, Issue 11, Page 2095-2101, November 2025.
Prevalence of radiologic signs of idiopathic intracranial hypertension in burning mouth syndrome patients. ABSTRACT Background Idiopathic intracranial hypertension (IIH), a disorder characterised by an elevation of intracranial pressure, has implications in chronic pain syndromes, especially in the cranial territory, and has been a matter of discussion.
Michele Davide Mignogna, Noemi Coppola, Stefania Leuci, Mattia Sansone, Federica Canfora, Daniela Adamo, Roberto De Simone   +6 more
wiley   +1 more source

Retinal assessment in 143 patients with white matter lesions: the potential of OCTA as an evaluation tool

Frontiers in Neurology
BackgroundThe retina is a simple window to reflect the changes of brain nerves. The aim of this study was to investigate the association between retinal status and white matter lesions (WMLs) in 143 patients aged 50–80 years, utilizing Optical Coherence ...
Dong Zhang, Xueying Jiang, Yan Zhang, Jingcui Qin   +3 more
doaj   +1 more source

Fluctuations in angle lambda with the pupil diameter and correlations with biometric values in a healthy population

Ophthalmic and Physiological Optics, Volume 45, Issue 7, Page 1837-1844, November 2025.
Abstract Purpose Angle lambda (λ) is defined as the angle between the line of sight and the pupillary axis at the entrance pupil. We previously developed a child‐friendly and portable method to measure this angle in daily practice. In a given population, angle λ fluctuates according to age or refractive error.
Maxence Rateaux, Alienor Vienne‐Jumeau, Dominique Bremond‐Gignac, Matthieu P. Robert   +3 more
wiley   +1 more source

Surgical management of concomitant ptosis and cicatricial entropion in a patient with ocular cicatricial pemphigoid [PDF]

, 2015
Purpose: To report on the surgical management of concurrent ptosis and entropion in a patient with cicatricial pemphigoid. Case report: A 71 year-old patient presented with vision impairment and pain in the right eye due to entropion associated ...
Lambiase, Alessandro, Mutolo, MARIA GIULIA, Recupero, Santi Maria, Scuderi, Gianluca   +3 more
core   +1 more source

Retinal microvascular alterations in Alzheimer's disease: Linking blood plasma biomarkers and cerebral small vessel pathology

Alzheimer's &Dementia, Volume 21, Issue 10, October 2025.
Abstract BACKGROUND Retinal microvascular alterations, detectable via color fundus photography (CFP), may reflect cerebral microvascular pathology in Alzheimer's disease (AD). However, their associations with blood‐based biomarkers and cerebral small vessel disease (SVD) remain unclear.
William Robert Kwapong, Ning Wu, Weihong Lin, Jianing Shen, Youjie Wang, Jiajing Qian, Caiyun Wen, Xiaoqian Luan, Yuntao Liu, Haoran Cheng, Huihua Qiu, Carol Y. Cheung, Chunwen Zheng, Yinhe Liu, Yunjun Yang, Vincent Mok, Zhen Wang   +16 more
wiley   +1 more source

Cerebellar Atrophy in Congenital Fibrosis of the Extraocular Muscles Type 1 [PDF]

, 2012
We described a family with a molecularly confirmed form of CFEOM1 and a late-onset cerebellar syndrome. Brain MRI showed vermis atrophy in two older family members, who also manifested gait impairment, whereas both neurological examination and ...
Alessandra Tessa, Carlo Casali, DE BERARDINIS, TERESA, Filippo Maria Santorelli, Francesca Piccolo, Francesco Pierelli, Giovanna Comanducci, Roberto Di Fabio, Umberto Sabatini   +8 more
core   +1 more source

Benedictine Monastery on the Island of Rab Hides the Mystery of Sunlight Influence on Development of Macular Degeneration (AMD). Is a Harmful Sunligh, Risk Factor or Cause of Macular Degeneration? [PDF]

, 2010
Benedictine Monastery of St. Andrew is probably the oldest existing Benedictine monastery in this area. According to hundreds of years of legend, it was founded in 1018 year.
Božo Vojniković, Davor Vojniković
core   +1 more source

Optical Coherence Tomography Angiography of Iris Nevus: A Case Report [PDF]

, 2016
Iris nevus is common: 6% of patients with suspected iris melanoma have lesions other than melanoma, and 36% of them are nevi. Iris nevus turns into melanoma in approximately 8% of cases at a mean of 15 years.
Allegrini, D., Montesano, G., Pece, A.
core   +3 more sources

Diabetic retinopathy in women attended to at the “Ernesto Guevara de la Serna” Hospital

Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2018
Background: diabetic retinopathy is a progressive chronic disease that potentially threatens the retinal microvasculature, associated with prolonged hyperglycemia and diabetes duration.Objective: to characterize the diabetic retinopathy in women attended
Bárbara Dagmary Labrada-Arias, Elizabeth del Carmen Ramírez-Pérez, Adriana Beatriz Abreu-Leyva, Brunilda de los Ángeles Aveleira-Ortiz, Migdalys González-Leyva   +4 more
doaj