Results 61 to 70 of about 22,247 (288)

Ocular manifestations in Gorlin-Goltz syndrome [PDF]

open access: yes, 2019
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

Predicting Epileptogenic Tubers in Patients With Tuberous Sclerosis Complex Using a Fusion Model Integrating Lesion Network Mapping and Machine Learning

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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

open access: yesADMET and DMPK, 2016
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]

open access: yes, 2018
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

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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

Cognitive Status in People With Epilepsy in the Republic of Guinea: A Prospective, Case–Control Study

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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]

open access: yes, 2017
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

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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]

open access: yes, 2015
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

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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

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