Associated Papers
Delineating the genetic landscape of Charcot-Marie-tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants.
Cakar A et al.
European Journal of Neurology, 2025
39776111 (PubMed )
Supplement: ENE-32-e16572-s001.xlsx › Sheet1
Identification of biallelic mutations in MCM3AP and comprehensive literature analysis.
Liu C et al.
Frontiers in Genetics, 2024
Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content.
Woldegebriel R et al.
Human Molecular Genetics, 2020
Genetic spectrum of MCM3AP and its relationship with phenotype of Charcot-Marie-Tooth disease.
Dong HL et al.
Journal of the Peripheral Nervous System : Jpns, 2020
Reply: A novel MCM3AP mutation in a Lebanese family with recessive Charcot-Marie-Tooth neuropathy.
Ylikallio E et al.
Brain : a Journal of Neurology, 2018
A novel MCM3AP mutation in a Lebanese family with recessive Charcot-Marie-Tooth neuropathy.
Kennerson ML et al.
Brain : a Journal of Neurology, 2018
Biallelic MCM3AP mutations cause Charcot-Marie-Tooth neuropathy with variable clinical presentation.
Karakaya M et al.
Brain : a Journal of Neurology, 2017
MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.
Ylikallio E et al.
Brain : a Journal of Neurology, 2017
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