Work

Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons

Year: 2004

Type: article

Source: Human Molecular Genetics

DOI: 10.1093/hmg/ddh327

Authors: Hong Jiang, Ami Mankodi, Maurice S. Swanson, Richard T. Moxley, Charles A. Thornton

Institutions: University of Rochester Medicine, University of Rochester, University of Florida Health, University of Florida

Language: English

Topic: Genetic Neurodegenerative Diseases

Subfield: Cellular and Molecular Neuroscience

Field: Neuroscience

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funders: Muscular Dystrophy Association, University of Rochester, National Institutes of Health, National Institute of Arthritis and Musculoskeletal and Skin Diseases

Awards: G3570226002, RNA-mediated mechanisms in the myotonic dystrophies, Integrative Pathophysiology of Myotonic Dystrophy, RNA Dominance in Human Disease

OpenAlex ID: W2103116226

FWCI: 9.126

Cites: 86

Cited by: 550

Related to: 10