A soluble phosphorylated tau signature links tau, amyloid and the evolution of stages of dominantly inherited Alzheimer’s disease
Sign Up to like & getrecommendations! Published in 2020 at "Nature Medicine"
DOI: 10.1038/s41591-020-0781-z
Abstract: Development of tau-based therapies for Alzheimer’s disease requires an understanding of the timing of disease-related changes in tau. We quantified the phosphorylation state at multiple sites of the tau protein in cerebrospinal fluid markers across… read more here.
Keywords: alzheimer disease; inherited alzheimer; disease; pathology ... See more keywords
Dominantly Inherited β-Thalassemia Caused by a Single Nucleotide Deletion in Exon 3 of the β-Globin Gene: Hb Xiangyang (HBB: c.393delT)
Sign Up to like & getrecommendations! Published in 2022 at "Hemoglobin"
DOI: 10.1080/03630269.2022.2072325
Abstract: Abstract We report a de novo frameshift mutation in exon 3 of the β-globin gene that leads to a β-thalassemia (β-thal) intermedia (β-TI) phenotype in a 6-year-old Chinese boy. This novel mutation with deletion of… read more here.
Keywords: deletion; exon globin; dominantly inherited; globin gene ... See more keywords
A novel DNAJB6 mutation causes dominantly inherited distal‐onset myopathy and compromises DNAJB6 function
Sign Up to like & getrecommendations! Published in 2017 at "Clinical Genetics"
DOI: 10.1111/cge.13001
Abstract: Mutations in the DNAJB6 gene have been identified as a rare cause of dominantly inherited limb‐girdle muscular dystrophy or distal‐onset myopathy. read more here.
Keywords: distal onset; novel dnajb6; dnajb6 mutation; onset myopathy ... See more keywords
O.11 Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy
Sign Up to like & getrecommendations! Published in 2022 at "Neuromuscular Disorders"
DOI: 10.1111/nan.12846
Abstract: Dysferlinopathy is an autosomal recessive muscular dystrophy, caused by bi‐allelic variants in the gene encoding dysferlin (DYSF). Onset typically occurs in the second to third decade and is characterised by slowly progressive skeletal muscle weakness… read more here.
Keywords: dysf variant; dominantly inherited; dysf; large family ... See more keywords