Associated Papers
Whole-genome sequencing in clinically diagnosed Charcot-Marie-Tooth disease undiagnosed by whole-exome sequencing.
Kim YG et al.
Brain Communications, 2023
37180992 (PubMed )
Supplement: fcad139_supplementary_data.zip › Supplementary_Table_1_and_Supplementary_References.docx
Genetic spectrum of Charcot-Marie-Tooth disease associated with myelin protein zero gene variants in Japan.
Taniguchi T et al.
Clinical Genetics, 2021
33179255 (PubMed )
Supplement: CGE-99-359-s001.docx
Clinical Application of Whole Exome Sequencing for Monogenic Disorders in PICU of China.
Liu Y et al.
Frontiers in Genetics, 2021
Impact of I30T and I30M substitution in MPZ gene associated with Dejerine-Sottas syndrome type B (DSSB): A molecular modeling and dynamics.
Agrahari A et al.
Journal of Theoretical Biology, 2015
Late-onset Charcot-Marie-Tooth disease type 1B due to a novel mutation in the extracellular disulfide bridge of MPZ gene.
Nishiyama S et al.
Clinical Neurology and Neurosurgery, 2013
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII_
A somatic and germline mosaic mutation in MPZ/P(0) mimics recessive inheritance of CMT1B.
Fabrizi GM et al.
Neurology, 2001
Select a paper to view details