Work

Amyotrophic lateral sclerosis caused by hexanucleotide repeat expansions in C9orf72: from genetics to therapeutics

Year: 2025

Type: review

Source: The Lancet Neurology

DOI: 10.1016/s1474-4422(25)00026-2

Authors: Sarah Mizielinska, Guillaume M Hautbergue, Tania F Gendron, Marka van Blitterswijk, Orla Hardiman, John Ravits, Adrian M Isaacs, Rosa Rademakers

Institutions: King's College London, UK Dementia Research Institute, University of Sheffield, Mayo Clinic in Florida, Trinity College Dublin, University of California San Diego, UCL Queen Square Institute of Neurology, University College London, University of Antwerp, VIB-UAntwerp Center for Molecular Neurology

Language: English

Topic: Amyotrophic Lateral Sclerosis Research

Subfield: Neurology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: bronze

Funders: Medical Research Council, Biotechnology and Biological Sciences Research Council, NIHR Sheffield Biomedical Research Centre, National Institute on Aging, National Institute of Neurological Disorders and Stroke

Awards: G1096621605, G1472913661, Whole genome sequencing consortium on Frontotemporal dementia with underlying TDP-43 pathology, C9orf72-mediated features, transcriptomic signatures, and translational studies for frontotemporal dementia and related disorders, Pathobiology of Neurodegeneration in C9ORF72 repeat expansion, Structural and functional investigation of the SRSF1-mediated nuclear export of mRNAs, ARTFL LEFFTDS Longitudinal Frontotemporal Lobar Degeneration, Cycle 2 (ALLFTD2), Poly(ADP-ribose) promotes the condensation and toxicity of C9orf72 arginine-rich dipeptide repeat proteins, Frontotemporal dementia and related disorders: transcriptomic profiling, biomarker discovery, and mechanistic insight, Mayo Alzheimer's Disease Research Center

OpenAlex ID: W4407731828

FWCI: 9.1

Cites: 150

Cited by: 51

Related to: 10