Associated Papers
Identification and Characterization of Novel Founder Mutations in NDRG1: Refining the Genetic Landscape of Charcot-Marie-Tooth Disease Type 4D in Bulgaria.
Atkinson D et al.
International Journal of Molecular Sciences, 2024
A splice altering variant in NDRG1 gene causes Charcot-Marie-Tooth disease, type 4D.
Pravinbabu P et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
Nervous NDRGs: the N-myc downstream-regulated gene family in the central and peripheral nervous system.
Schonkeren SL et al.
Neurogenetics, 2019
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage
Identification and functional characterization of two missense mutations in NDRG1 associated with Charcot-Marie-Tooth disease type 4D.
Li LX et al.
Human Mutation, 2017
A novel NDRG1 mutation in a non-Romani patient with CMT4D/HMSN-Lom.
Piscosquito G et al.
Journal of the Peripheral Nervous System : Jpns, 2017
HMSN Lom in 12 Czech patients, with one unusual case due to uniparental isodisomy of chromosome 8.
Šafka Brožková D et al.
Journal of Human Genetics, 2017
Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D.
Okamoto Y et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2014
Ndrg1 in development and maintenance of the myelin sheath.
King RH et al.
Neurobiology of Disease, 2011
Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease.
Hunter M et al.
Human Mutation, 2003
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