Work

Exome sequencing identifies a DNAJB6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophy

Year: 2014

Type: article

Source: Neuromuscular Disorders

DOI: 10.1016/j.nmd.2014.01.014

Authors: Julien Couthouis, Alya R. Raphael, Carly Siskind, Andrew R. Findlay, Jason D. Buenrostro, William J. Greenleaf, Hannes Vogel, John W. Day, Kevin M. Flanigan, Aaron D. Gitler

Institutions: Stanford Medicine, Stanford University, Stanford Health Care, The Ohio State University, Nationwide Children's Hospital

Language: English

Topic: Muscle Physiology and Disorders

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funders: National Institutes of Health, National Human Genome Research Institute, National Institute of Neurological Disorders and Stroke

Awards: Ataxin-2 as a genetic risk factor for ALS: New insights into neurodegeneration, G3905536408, G479828095, Molecular Basis of TDP-43 Proteinopathies: Disease Models and Mechanisms, Using yeast cells to define mechanisms of human neurodegenerative diseases, Institutional Training Grant in Genome Science

OpenAlex ID: W2156235086

FWCI: 2.265

Cites: 24

Cited by: 41

Related to: 10