Ocular alterations, molecular findings, and three novel pathological mutations in a series of NF2 patients
Sign Up to like & getrecommendations! Published in 2019 at "Graefe's Archive for Clinical and Experimental Ophthalmology"
DOI: 10.1007/s00417-019-04348-5
Abstract: PurposeTo evaluate ophthalmological and molecular findings in eight patients with a clinical diagnosis of neurofibromatosis type 2 (NF2). New pathological mutations are described and variability in the ophthalmic phenotype and NF2 allelic heterogeneity are discussed.MethodsEye… read more here.
Keywords: pathological mutations; ocular alterations; alterations molecular; three novel ... See more keywords
In vivo Analysis of CRISPR/Cas9 Induced Atlastin Pathological Mutations in Drosophila
Sign Up to like & getrecommendations! Published in 2020 at "Frontiers in Neuroscience"
DOI: 10.3389/fnins.2020.547746
Abstract: The endoplasmic reticulum (ER) is a highly dynamic network whose shape is thought to be actively regulated by membrane resident proteins. Mutation of several such morphology regulators cause the neurological disorder Hereditary Sp astic Paraplegia… read more here.
Keywords: pathological mutations; crispr cas9; atlastin; vivo analysis ... See more keywords