Artificial vision with wirelessly powered subretinal electronic implant alpha-IMS

Katarína Štingl, Karl Ulrich Bartz‐Schmidt, Dorothea Besch, +15

Proceedings of the Royal Society B Biological Sciences

Artificial VisionMedical ElectronicsEngineeringBiomedical EngineeringRetinal Therapies +19

PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum

Matthis Synofzik, Michael Gonzalez, Charles Marques Lourenço, +15

Brain

Corticobasal DegenerationGeneticsPathologyPnpla6 MutationsMolecular Genetics +16

Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia

Tanja Grau, Nikolai O. Artemyev, Thomas Rosenberg, +10

Human Molecular Genetics

Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases

Nicole Weisschuh, Pascale Mazzola, Theresia Zuleger, +30

Journal of Medical Genetics

Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia

Matias Wagner, Daniel P. S. Osborn, Ina Gehweiler, +26

Nature Communications

Treatment of optic neuritis with erythropoietin (TONE): a randomised, double-blind, placebo-controlled trial—study protocol

Ricarda Diem, Fanni Molnár, Flemming Beisse, +31

BMJ Open

FIG4 mutations leading to parkinsonism and a phenotypical continuum between CMT4J and Yunis Varón syndrome

Milan Zimmermann, Stefanie Schuster, Sylvia Boesch, +8

Parkinsonism & Related Disorders

Yunis Varón SyndromeMendelian DisorderPhenotypical ContinuumDisease MechanismGenetic Disorder +6

Assessment of functional and morphometric endpoints in patients with non-arteritic anterior ischemic optic neuropathy (NAION)

Christoph Kernstock, Flemming Beisse, Sarah Wiethoff, +7

Graefe s Archive for Clinical and Experimental Ophthalmology

OphthalmologyMedicineNeuroscienceGlaucomaNeurology +6

ARSACS as a Worldwide Disease: Novel SACS Mutations Identified in a Consanguineous Family from the Remote Tribal Jammu and Kashmir Region in India

Raja A. H. Kuchay, Yaser Rafiq Mir, Xue Zeng, +6

The Cerebellum

Kashmir RegionGeneticsPathogenesisPathologyWorldwide Disease +2

In Vivo Assessment of Retinal Vascular Wall Dimensions

Manuel Fischer, Gesine Huber, Yuxi Feng, +9

Investigative Ophthalmology & Visual Science