Results 61 to 70 of about 22,247 (288)
Ocular manifestations in Gorlin-Goltz syndrome [PDF]
Background: Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, is a rare genetic disorder that is transmitted in an autosomal dominant manner with complete penetrance and variable expressivity.
Franzone, F. +8 more
core +1 more source
ABSTRACT Objective Accurate localization of epileptogenic tubers (ETs) in patients with tuberous sclerosis complex (TSC) is essential but challenging, as these tubers lack distinct pathological or genetic markers to differentiate them from other cortical tubers.
Tinghong Liu +11 more
wiley +1 more source
ROCK inhibitors in ocular disease
Rho kinases (ROCKs) have a crucial role in actin-cytoskeletal reorganization and thus are involved in broad aspects of cell motility, from smooth muscle contraction to neurite outgrowth.
Eva Halasz, Ellen Townes-Anderson
doaj +1 more source
A case report of progressive Brown syndrome? [PDF]
Aim: To report an unusual case of progressive Brown syndrome and the successful surgical treatment. Methods: A 42-year-old male with a documented 14-year history of progressive Brown syndrome is presented.
Arblaster, G., Burke, J.P., Coughlan, A.
core +1 more source
Life‐Threatening Bradycardia in Anti‐NMDA‐Receptor Encephalitis and a Novel Use for Permanent Pacing
ABSTRACT Background Pediatric anti‐NMDA receptor encephalitis (pNMDARE) is an autoantibody‐mediated disorder that can cause severe autonomic dysfunction, including symptomatic bradycardia and asystole. Dysautonomia can last for years, making it very challenging to manage.
Sarah Tucker +9 more
wiley +1 more source
ABSTRACT Objective People with epilepsy (PWE) may experience cognitive deficits but fail to undergo formal evaluation. This study compares cognitive status between PWE and healthy controls in the West African Republic of Guinea. Methods A cross‐sectional, case–control study was conducted in sequential recruitment phases (July 2024–July 2025) at Ignace ...
Maya L. Mastick +14 more
wiley +1 more source
Screening methods for post-stroke visual impairment: a systematic review [PDF]
To provide a systematic overview of the various tools available to screen for post-stroke visual impairment.A review of the literature was conducted including randomised controlled trials, controlled trials, cohort studies, observational studies ...
Hanna, KL, Hepworth, LR, Rowe, F
core +1 more source
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi +2 more
wiley +1 more source
Vision problems following stroke: developing a best practice statement [PDF]
An estimated 15 million people worldwide suffer a stroke each year, and in developed countries, survival is increasing. Of those who survive 30 days or more after their first event, many experience stroke-related vision and visual problems.
Stanley, Jennifer, Tolmie, Elizabeth
core +1 more source
Variably Protease‐Sensitive Prionopathy: Two New Cases With Motor Neuron‐Dementia Syndrome
ABSTRACT We describe two patients with variably protease‐sensitive prionopathy (VPSPr) who developed progressive upper motor neuron symptoms, insomnia, behavioral and cognitive decline, compatible with primary lateral sclerosis associated with frontotemporal dementia (FTD).
María Elena Erro +10 more
wiley +1 more source

