Ianzano L - Search Results

1

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. Among authors: ianzano l. 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

2

Identification of a novel protein interacting with laforin, the EPM2a progressive myoclonus epilepsy gene product.

Ianzano L, Zhao XC, Minassian BA, Scherer SW. Ianzano L, et al. Genomics. 2003 Jun;81(6):579-87. doi: 10.1016/s0888-7543(03)00094-6. Genomics. 2003. PMID: 12782127

3

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. Among authors: ianzano l. Nat Genet. 2003 Oct;35(2):125-7. doi: 10.1038/ng1238. Epub 2003 Sep 7. Nat Genet. 2003. PMID: 12958597

4

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. Hum Mutat. 2004 Feb;23(2):170-176. doi: 10.1002/humu.10306. Hum Mutat. 2004. PMID: 14722920

5

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: ianzano l. 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

6

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. Hum Mutat. 2005 Oct;26(4):397. doi: 10.1002/humu.9376. Hum Mutat. 2005. PMID: 16134145

7

Identification of new and common mutations in the EPM2A gene in Lafora disease.

Minassian BA, Ianzano L, Delgado-Escueta AV, Scherer SW. Minassian BA, et al. Among authors: ianzano l. Neurology. 2000 Jan 25;54(2):488-90. doi: 10.1212/wnl.54.2.488. Neurology. 2000. PMID: 10668720

8

Mutation spectrum and predicted function of laforin in Lafora's progressive myoclonus epilepsy.

Minassian BA, Ianzano L, Meloche M, Andermann E, Rouleau GA, Delgado-Escueta AV, Scherer SW. Minassian BA, et al. Among authors: ianzano l. Neurology. 2000 Aug 8;55(3):341-6. doi: 10.1212/wnl.55.3.341. Neurology. 2000. PMID: 10932264

9

Laforin is a cell membrane and endoplasmic reticulum-associated protein tyrosine phosphatase.

Minassian BA, Andrade DM, Ianzano L, Young EJ, Chan E, Ackerley CA, Scherer SW. Minassian BA, et al. Among authors: ianzano l. Ann Neurol. 2001 Feb;49(2):271-5. Ann Neurol. 2001. PMID: 11220751

10

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: ianzano l. Science. 2005 Jan 7;307(5706):81. doi: 10.1126/science.1102832. Science. 2005. PMID: 15637270

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