Associated Papers
GIGYF1 disruption associates with autism and impaired IGF-1R signaling.
Chen G et al.
The Journal of Clinical Investigation, 2022
35917186 (PubMed )
Supplement: jci-132-159806-s115.xlsx › Supplementary_Table_3
Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders.
Kitamura Y et al.
Journal of Human Genetics, 2016
Mislocalization of fukutin protein by disease-causing missense mutations can be rescued with treatments directed at folding amelioration.
Tachikawa M et al.
The Journal of Biological Chemistry, 2012
Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype.
Yis U et al.
Neuromuscular Disorders : Nmd, 2011
Congenital muscular dystrophy with glycosylation defects of alpha-dystroglycan in Japan.
Matsumoto H et al.
Neuromuscular Disorders : Nmd, 2005
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