Results 181 to 190 of about 51,591 (290)

Chronic sarcoid myopathy mimicking facioscapulohumeral muscular dystrophy : a case report

open access: yes
: Chronic sarcoid myopathy is a rare disorder characterized by intramuscular granulomas and generally presents with symmetrical proximal limb-girdle muscle weakness.
Baets, Jonathan   +2 more
core  

Minocycline and bone marrow–derived mononuclear cells as potential therapeutics for hereditary retinal degenerations

open access: yesActa Ophthalmologica, EarlyView.
Abstract Purpose To assess in Royal College of Surgeons (RCS) rats if the combination of two previously documented neuroprotective strategies: minocycline administration and bone marrow–derived mononuclear cells (BM‐MNCs) intravitreal transplantation, offers enhanced neuroprotection compared with each treatment alone.
Alba Videla‐Ristol   +6 more
wiley   +1 more source

Revised Swedish visual field standards for a driver's licence: Threshold perimetry as a predictor of eligibility according to the current Swedish and current Norwegian suprathreshold standards

open access: yesActa Ophthalmologica, EarlyView.
Abstract Purpose To explore whether threshold perimetry can predict fulfilment of the current Swedish and current Norwegian Esterman perimetry standards for Group 1 driver's licence, and differences in compliance between the former and current Swedish visual field standards.
Wid Saadi, Tomas Bro, Susanna Sagerfors
wiley   +1 more source

Case series: The value of fundus autofluorescence in inherited macular disease. [PDF]

open access: yesOptom Vis Sci
Guro M   +6 more
europepmc   +1 more source

Genetic risk factors in Finnish patients with Fuchs endothelial corneal dystrophy

open access: yesActa Ophthalmologica, EarlyView.
Abstract Purpose To study the genetic risk factors of Fuchs endothelial corneal dystrophy (FECD) in the Finnish population using hospital‐based and large biobank cohorts. Methods We genotyped a cohort of 107 Finnish patients with FECD for the primary associated genetic risk factor, the TCF4 (CTG)>50 expansion, and studied their clinical phenotype.
Inka‐Tuulevi Vähämäki   +10 more
wiley   +1 more source

Innovative therapeutic approach in becker muscular dystrophy. From murine model to focal muscle vibration: a case report assessment through gait analysis. [PDF]

open access: yesFront Rehabil Sci
Camerota F   +9 more
europepmc   +1 more source

Corneal transplantation: Restoring sight to the blind

open access: yesActa Ophthalmologica, EarlyView.
Abstract Corneal blindness is one of the leading causes of vision loss worldwide. Transplantation of the cornea can restore vision and make blind patients see again. Corneal transplant surgery has undergone major evolution in recent decades with the advent of minimally invasive lamellar surgical approaches such as DMEK and DALK.
Claus Cursiefen
wiley   +1 more source

Dystrophia Smolandiensis is characterized by a novel NQO1 variant and a distinct phenotype from COL17A1‐associated epithelial recurrent erosion dystrophy

open access: yesActa Ophthalmologica, EarlyView.
Abstract Purpose To determine the molecular cause of the two epithelial recurrent erosion dystrophies, Dystrophia Smolandiensis and Dystrophia Helsinglandica, and to identify phenotypic differences between the two conditions. Methods DNA samples and clinical data from structured interview records were obtained from the Swedish families in which ...
Karl De Geer   +5 more
wiley   +1 more source

Clinical manifestations of dual‐gene variants in retinitis pigmentosa

open access: yesActa Ophthalmologica, EarlyView.
Abstract Purpose Retinitis pigmentosa (RP) is an inherited retinal disease (IRD), whereby each affected individual typically harbours pathogenic variants in a single causative gene, yet the disorder exhibits marked genetic heterogeneity, with more than 100 genes reported to underlie RP.
Lasse Wolfram   +11 more
wiley   +1 more source

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