Results 201 to 210 of about 229,492 (300)

Fostering Peat Moss Feedbacks to Accelerate Peatland Restoration. [PDF]

open access: yesGlob Chang Biol
Temmink RJM   +10 more
europepmc   +1 more source

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort

open access: yesAnnals of Neurology, EarlyView.
Objective Genomic sequencing leaves >50% of dystonia‐affected individuals without a diagnosis. Where DNA‐oriented approaches remain insufficient, integrating multiomics is essential to advance genome interpretation. Herein, we incorporated RNA sequencing (RNA‐seq) data from 167 patients with dystonia across a range of ages and presentations. Methods We
Alice Saparov   +42 more
wiley   +1 more source

High Prevalence of SOD1 Pathogenic Variants in the UK Biobank: Implications for Early Intervention in Amyotrophic Lateral Sclerosis

open access: yesAnnals of Neurology, EarlyView.
Objective SOD1 is the second most frequently mutated gene in European patients with amyotrophic lateral sclerosis (ALS). Given the recent authorization of SOD1‐targeted antisense oligonucleotides for SOD1‐ALS, prompt screening for SOD1 mutations in patients with ALS patients is highly recommended.
Delia Gagliardi   +9 more
wiley   +1 more source

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