Mutations associated with very late-onset metachromatic leukodystrophy

Visual hallucinations in Parkinson's disease are associated with thinning of the inner retina.

Scientific reports·2020

Oxidative stress biomarkers in Fabry disease: is there a room for them?

Journal of neurology·2020

Cognitive functioning in patients with carotid artery occlusion; a systematic review.

Journal of the neurological sciences·2018

Medial temporal lobe atrophy relates more strongly to sleep-wake rhythm fragmentation than to age or any other known risk.

Neurobiology of learning and memory·2018

Mitochondrial DNA haplogroups may influence Fabry disease phenotype.

Neuroscience letters·2016

A randomised controlled trial of aerobic exercise after transient ischaemic attack or minor stroke to prevent cognitive decline: the MoveIT study protocol.

BMJ open·2015

Two Novel ACTC1 Variants Cause Arthrogryposis Multiplex Congenita.

Clinical genetics·2026

Claudin-11-Mediated Hypomyelinating Leukodystrophy 22: New Insights Into Pathogenic Mechanisms.

Clinical genetics·2026

Atypical Prenatal Phenotypic Spectrum: A Case Series of Four Unique Presentations With Genetic and Diagnostic Insights.

Clinical genetics·2026

Elucidating the Role of SET as a Key Contributor to Neurodevelopmental Disability Within the 9q34.11 Deletion Syndrome Interval.

Clinical genetics·2026

Non-Coding c.*6C>T Variant in RBM8A Associated With Thrombocytopenia-Absent Radius (TAR) Syndrome in Three Indian Patients.

Clinical genetics·2026

Genetic Spectrum of Non-PTPN11 Variants in Noonan Syndrome and Related RASopathies: Findings From a Russian Cohort.

Clinical genetics·2026

Clinical indications and microscopic findings in 151 explanted intraocular lenses over 12 years.

Journal of cataract and refractive surgery·2026

Rotational Stability of Three Toric Intraocular Lens Platforms After Cataract Surgery: A Prospective Multicenter Randomized Trial.

Journal of cataract and refractive surgery·2026

Transitory vitreous opacities after CB-PRP intravitreal injections in dry AMD patients.

Therapeutic advances in ophthalmology·2026

Proto-clinical optoretinography dependence on temporal and spatial resolution.

Biomedical optics express·2026

Multi-orientation non-confocal retinal imaging in an AOSLO using a Dove prism.

Biomedical optics express·2026

Chromatic differential confocal matrix-based 3D topography and hyperspectral imaging with deep learning for osteoarthritis grading.

Biomedical optics express·2026

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