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Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3.
Brewer MH, Chaudhry R, Qi J, Kidambi A, Drew AP, Menezes MP, Ryan MM, Farrar MA, Mowat D, Subramanian GM, Young HK, Zuchner S, Reddel SW, Nicholson GA, Kennerson ML. Brewer MH, et al. Among authors: drew ap. PLoS Genet. 2016 Jul 20;12(7):e1006177. doi: 10.1371/journal.pgen.1006177. eCollection 2016 Jul. PLoS Genet. 2016. PMID: 27438001 Free PMC article.
A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene.
Kennerson ML, Yiu EM, Chuang DT, Kidambi A, Tso SC, Ly C, Chaudhry R, Drew AP, Rance G, Delatycki MB, Züchner S, Ryan MM, Nicholson GA. Kennerson ML, et al. Among authors: drew ap. Hum Mol Genet. 2013 Apr 1;22(7):1404-16. doi: 10.1093/hmg/dds557. Epub 2013 Jan 7. Hum Mol Genet. 2013. PMID: 23297365 Free PMC article.
MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs.
Albulym OM, Kennerson ML, Harms MB, Drew AP, Siddell AH, Auer-Grumbach M, Pestronk A, Connolly A, Baloh RH, Zuchner S, Reddel SW, Nicholson GA. Albulym OM, et al. Among authors: drew ap. Ann Neurol. 2016 Mar;79(3):419-27. doi: 10.1002/ana.24575. Epub 2016 Jan 13. Ann Neurol. 2016. PMID: 26659848 Free PMC article.
Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family.
Tey S, Shahrizaila N, Drew AP, Samulong S, Goh KJ, Battaloglu E, Atkinson D, Parman Y, Jordanova A, Chung KW, Choi BO, Li YC, Auer-Grumbach M, Nicholson GA, Kennerson ML, Ahmad-Annuar A. Tey S, et al. Among authors: drew ap. Neurogenetics. 2019 Aug;20(3):117-127. doi: 10.1007/s10048-019-00576-3. Epub 2019 Apr 22. Neurogenetics. 2019. PMID: 31011849
27 results