Minassian B - Search Results

1

Progressive myoclonus epilepsies: EPM1, EPM2A, EPM2B.

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

2

Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy.

Minassian BA, Lee JR, Herbrick JA, Huizenga J, Soder S, Mungall AJ, Dunham I, Gardner R, Fong CY, Carpenter S, Jardim L, Satishchandra P, Andermann E, Snead OC 3rd, Lopes-Cendes I, Tsui LC, Delgado-Escueta AV, Rouleau GA, Scherer SW. Minassian BA, et al. Nat Genet. 1998 Oct;20(2):171-4. doi: 10.1038/2470. Nat Genet. 1998. PMID: 9771710

3

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. Neurology. 2000 Jan 25;54(2):488-90. doi: 10.1212/wnl.54.2.488. Neurology. 2000. PMID: 10668720

4

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. Neurology. 2000 Aug 8;55(3):341-6. doi: 10.1212/wnl.55.3.341. Neurology. 2000. PMID: 10932264

5

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. Ann Neurol. 2001 Feb;49(2):271-5. Ann Neurol. 2001. PMID: 11220751

6

Lafora's disease: towards a clinical, pathologic, and molecular synthesis.

Minassian BA. Minassian BA. Pediatr Neurol. 2001 Jul;25(1):21-9. doi: 10.1016/s0887-8994(00)00276-9. Pediatr Neurol. 2001. PMID: 11483392 Review.

7

Progressive myoclonus epilepsy with polyglucosan bodies: Lafora disease.

Minassian BA. Minassian BA. Adv Neurol. 2002;89:199-210. Adv Neurol. 2002. PMID: 11968446 Review. No abstract available.

8

Neuropathological changes in a mouse model of progressive myoclonus epilepsy: cystatin B deficiency and Unverricht-Lundborg disease.

Shannon P, Pennacchio LA, Houseweart MK, Minassian BA, Myers RM. Shannon P, et al. J Neuropathol Exp Neurol. 2002 Dec;61(12):1085-91. doi: 10.1093/jnen/61.12.1085. J Neuropathol Exp Neurol. 2002. PMID: 12484571

9

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

10

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

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