Work

A Homozygous Mutation in KCTD7 Links Neuronal Ceroid Lipofuscinosis to the Ubiquitin-Proteasome System

Year: 2012

Type: article

Source: The American Journal of Human Genetics

DOI: 10.1016/j.ajhg.2012.05.023

Authors: John F. Staropoli, Amel Karaa, Elaine T. Lim, Andrew Kirby, Naser Elbalalesy, Stephen G. Romansky, Karen B. Leydiker, Scott H. Coppel, Rosemary Barone, Winnie Xin, Marcy E. MacDonald, Jose E. Abdenur, Mark J. Daly, Katherine B. Sims, Susan L. Cotman

Institutions: Massachusetts General Hospital, Broad Institute, Children's Hospital of Orange County, Miller Children's & Women's Hospital

Language: English

Topic: Lysosomal Storage Disorders Research

Subfield: Genetics (clinical)

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: bronze

Funders: National Institutes of Health, National Heart, Lung, and Blood Institute, National Institute of General Medical Sciences, National Institute of Neurological Disorders and Stroke

Awards: G1019374866, Comprehensive Sequencing and Analysis of Variation in NHLBI Cohorts, G140944187, G2032172404, Northwest Genomics Center, ARRA - NHLBI Lung Cohorts Sequencing Project, WHI Sequencing Project (WHISP), The Molecular Basis of NCL, G3550174423, Endocytosis in JNCL, Comprehensive Sequencing and Analysis of Variation in NHLBI Cohorts, G475171617, ARRA - NHLBI Lung Cohorts Sequencing Project, Human Exome Sequencing in Six Well-Phenotyped NHLBI Cohorts, Human Exome Sequencing in Six Well-Phenotyped NHLBI Cohorts, WHI Sequencing Project (WHISP), Northwest Genomics Center, G843766559, Training Grant in Genetics

OpenAlex ID: W2015848870

FWCI: 9.235

Cites: 35

Cited by: 118

Related to: 10