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Paper Details

GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome.
Ann Neurol
19
2020
-derived myogenic cells, GGPS1, GGPS1 mutations, Hearing Loss, Muscular Dystrophy, Ovarian Insufficiency Syndrome, Y259C, congenital sensorineural hearing loss, dystrophic, geranylgeranyl diphosphate, geranylgeranyl diphosphate synthase, geranylgeranyl pyrophosphate, guanosine, hearing loss, isoprenoid, mevalonate, mouse, muscular dystrophy, ovarian insufficiency, patient, patients, prenatal lethality, primary ovarian insufficiency, proximal weakness, sensorineural hearing loss, small guanosine triphosphatases
Author NameAffiliation
Volker StraubInstitute of Genetic Medicine, International Centre for Life
Thomas C MarkelloNational Institutes of Health Undiagnosed Diseases Program, National Human Genome Research Institute
Richard S FinkelChildren's Hospital of Philadelphia
Richard S FinkelSt. Jude Children's Research Hospital
Mariarita SantiChildren's Hospital of Philadelphia
Mariarita SantiChildren's Hospital of Philadelphia
Kate BushbyInstitute of Genetic Medicine, International Centre for Life
Udo OppermannBotnar Research Centre, National Institute for Health Research Biomedical Research Centre Oxford, University of Oxford
Udo OppermannUniversity of Oxford
Udo OppermannFreiburg Institute of Advanced Studies, University of Freiburg
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Release 1.2