Work

C9ORF72 hexanucleotide repeat expansions in patients with ALS from the Coriell Cell Repository

Year: 2012

Type: article

Abstract: Amyotrophic lateral sclerosis (ALS) is a neurologic disorder, characterized by progressive degeneration of both upper and lower motor neurons in the brain and spinal cord. Previous genetic studies have identified mutations in Cu/Zn superoxide dismutase ( SOD1 ), transactive response binding protein

Source: Neurology

DOI: 10.1212/wnl.0b013e31826170f1

Authors: Nicola J. Rutherford, Mariely DeJesus- Hernandez, Matt C. Baker, Thomas B. Kryston, Patricia E. Brown, Catherine Lomen-Hoerth, Kevin Boylan, Zbigniew K. Wszolek, Rosa Rademakers

Institutions: Mayo Clinic, University of California, San Francisco, Mayo Clinic in Florida

Language: Dutch

Topic: Amyotrophic Lateral Sclerosis Research

Subfield: Neurology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: bronze

Funders: ALS Association, Dystonia Medical Research Foundation, Biogen, ALS Therapy Alliance, Mayo Foundation for Medical Education and Research, CurePSP, Avanir Pharmaceuticals, Cytokinetics, National Institutes of Health, National Institute on Aging, National Institute of Neurological Disorders and Stroke

Awards: G1643660107, G2354759373, G3244572043, Biomarkers for Preclinical Parkinson's disease, Progranulin: Mutation and Regulation in Neurodegenerative disease, G5884129571, PD iPS Cell Line Research Consortium, Progranulin, TDP-43 and Cell Death, Genetics and Molecular Biology of Parkinsonism, G9000281426, G9000328579, Mayo Alzheimer's Disease Research Center

OpenAlex ID: W2066960583

FWCI: 1.875

Cites: 7

Cited by: 14

Related to: 10