Associated Papers
FBXO38 Ubiquitin Ligase Controls Sertoli Cell Maturation.
Dibus N et al.
Frontiers in Cell and Developmental Biology, 2022
35769260 (PubMed )
Supplement: DataSheet1.docx
FBXO38 Ubiquitin Ligase Controls Centromere Integrity via ZXDA/B Stability.
Dibus N et al.
Frontiers in Cell and Developmental Biology, 2022
The expanding genetic landscape of hereditary motor neuropathies.
Beijer D et al.
Brain : a Journal of Neurology, 2020
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
32948190 (PubMed )
Supplement: 12920_2020_735_MOESM1_ESM.xlsx › mutations
A novel homozygous FBXO38 variant causes an early-onset distal hereditary motor neuronopathy type IID.
Akçimen F et al.
Journal of Human Genetics, 2019
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
29491882 (PubMed )
Supplement: Table2.xlsx › Sheet1
Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success.
Timmerman V et al.
Genes, 2014
24705285 (PubMed )
Supplement: genes-05-00013-s001.pdf
A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance.
Sumner CJ et al.
American Journal of Human Genetics, 2013
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