Chan EM - Search Results

1

Novel glycogen synthase kinase 3 and ubiquitination pathways in progressive myoclonus epilepsy.

Lohi H, Ianzano L, Zhao XC, Chan EM, Turnbull J, Scherer SW, Ackerley CA, Minassian BA. Lohi H, et al. Among authors: chan em. Hum Mol Genet. 2005 Sep 15;14(18):2727-36. doi: 10.1093/hmg/ddi306. Epub 2005 Aug 22. Hum Mol Genet. 2005. PMID: 16115820

2

Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22.

Chan EM, Bulman DE, Paterson AD, Turnbull J, Andermann E, Andermann F, Rouleau GA, Delgado-Escueta AV, Scherer SW, Minassian BA. Chan EM, et al. J Med Genet. 2003 Sep;40(9):671-5. doi: 10.1136/jmg.40.9.671. J Med Genet. 2003. PMID: 12960212 Free PMC article.

3

Progressive myoclonus epilepsy with polyglucosans (Lafora disease): evidence for a third locus.

Chan EM, Omer S, Ahmed M, Bridges LR, Bennett C, Scherer SW, Minassian BA. Chan EM, et al. Neurology. 2004 Aug 10;63(3):565-7. doi: 10.1212/01.wnl.0000133215.65836.03. Neurology. 2004. PMID: 15304597

4

Mutations in NHLRC1 cause progressive myoclonus epilepsy.

Chan EM, Young EJ, Ianzano L, Munteanu I, Zhao X, Christopoulos CC, Avanzini G, Elia M, Ackerley CA, Jovic NJ, Bohlega S, Andermann E, Rouleau GA, Delgado-Escueta AV, Minassian BA, Scherer SW. Chan EM, et al. Nat Genet. 2003 Oct;35(2):125-7. doi: 10.1038/ng1238. Epub 2003 Sep 7. Nat Genet. 2003. PMID: 12958597

5

Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy.

Ianzano L, Young EJ, Zhao XC, Chan EM, Rodriguez MT, Torrado MV, Scherer SW, Minassian BA. Ianzano L, et al. Among authors: chan em. Hum Mutat. 2004 Feb;23(2):170-176. doi: 10.1002/humu.10306. Hum Mutat. 2004. PMID: 14722920

6

Laforin preferentially binds the neurotoxic starch-like polyglucosans, which form in its absence in progressive myoclonus epilepsy.

Chan EM, Ackerley CA, Lohi H, Ianzano L, Cortez MA, Shannon P, Scherer SW, Minassian BA. Chan EM, et al. Hum Mol Genet. 2004 Jun 1;13(11):1117-29. doi: 10.1093/hmg/ddh130. Epub 2004 Apr 21. Hum Mol Genet. 2004. PMID: 15102711

7

Lafora progressive Myoclonus Epilepsy mutation database-EPM2A and NHLRC1 (EPM2B) genes.

Ianzano L, Zhang J, Chan EM, Zhao XC, Lohi H, Scherer SW, Minassian BA. Ianzano L, et al. Among authors: chan em. Hum Mutat. 2005 Oct;26(4):397. doi: 10.1002/humu.9376. Hum Mutat. 2005. PMID: 16134145

8

Progressive myoclonus epilepsies: EPM1, EPM2A, EPM2B.

Chan EM, Andrade DM, Franceschetti S, Minassian B. Chan EM, et al. Adv Neurol. 2005;95:47-57. Adv Neurol. 2005. PMID: 15508913 Review. No abstract available.

9

Expanded repeat in canine epilepsy.

Lohi H, Young EJ, Fitzmaurice SN, Rusbridge C, Chan EM, Vervoort M, Turnbull J, Zhao XC, Ianzano L, Paterson AD, Sutter NB, Ostrander EA, André C, Shelton GD, Ackerley CA, Scherer SW, Minassian BA. Lohi H, et al. Among authors: chan em. Science. 2005 Jan 7;307(5706):81. doi: 10.1126/science.1102832. Science. 2005. PMID: 15637270

10

On the road to tractability: the current biochemical understanding of progressive myoclonus epilepsies.

Lohi H, Chan EM, Scherer SW, Minassian BA. Lohi H, et al. Among authors: chan em. Adv Neurol. 2006;97:399-415. Adv Neurol. 2006. PMID: 16383151 Review. No abstract available.

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