Browsing by Author Ly, Carolyn

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Issue DateTitleAuthor(s)Citation
2015Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencingBrewer, Megan Hwa; Kennerson, Marina; Nicholson, Garth; Zhu, Danqing; Ahmad-Annuar, Azlina; Drew, Alexander P; Kidambi, Aditi; Ly, Carolyn; Tey, Shelisa; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: MedicineImproved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing, Molecular Genetics & Genomic Medicine, vol.3, 2, 2015,pp 143-154
2013A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) geneChaudhry, Rabia; Kennerson, Marina; Nicholson, Garth; Zuchner, Stephen; Chuang, David; Delatyckl, Martin; Drew, Alexander; Kidambi, Aditi; Ly, Carolyn; Rance, Gary; Ryan, Monique M.; Tso, Shih-Chia; Yiu, Eppie M.; Concord Clinical School: Medicine; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research InstituteA new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene, Human Molecular Genetics, vol.22, 7, 2013,pp 1404-1416
2016Pathogenic mechanisms underlying x-linked charcot-marie-tooth neuropathy (CMTX6) in patients with a pyruvate dehydrogenase kinase 3 mutationDrew, Alexander Peter; Grant, Adrienne; Kennerson, Marina; Ly, Carolyn; Nicholson, Garth; Perez-Siles, Gonzalo; Chuang, David; Ryan, Monique M.; Tso, Shih-Chia; Yiu, Eppie M.; Concord Clinical School: ANZAC Research Institute; Biological Sciences; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research InstitutePathogenic mechanisms underlying x-linked charcot-marie-tooth neuropathy (CMTX6) in patients with a pyruvate dehydrogenase kinase 3 mutation, Neurobiology of Disease, vol.94, N/A, 2016,pp 237-244
2016Pathogenic mechanisms underlying x-linked charcot-marie-tooth neuropathy (CMTX6) in patients with a pyruvate dehydrogenase kinase 3 mutationDrew, Alexander Peter; Grant, Adrienne; Kennerson, Marina; Ly, Carolyn; Nicholson, Garth; Perez-Siles, Gonzalo; Chuang, David; Ryan, Monique M.; Tso, Shih-Chia; Yiu, Eppie M.; Concord Clinical School: ANZAC Research Institute; Biological Sciences; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research InstitutePathogenic mechanisms underlying x-linked charcot-marie-tooth neuropathy (CMTX6) in patients with a pyruvate dehydrogenase kinase 3 mutation, Neurobiology of Disease, vol.94, N/A, 2016,pp 237-244