Lohi H - Search Results

1

Sacred disease secrets revealed: the genetics of human epilepsy.

Turnbull J, Lohi H, Kearney JA, Rouleau GA, Delgado-Escueta AV, Meisler MH, Cossette P, Minassian BA. Turnbull J, et al. Among authors: lohi h. Hum Mol Genet. 2005 Sep 1;14(17):2491-500. doi: 10.1093/hmg/ddi250. Epub 2005 Jul 27. Hum Mol Genet. 2005. Corrected and republished in: Hum Mol Genet. 2005 Oct 15;14 Spec No. 2:2491-2500.. PMID: 16049035 Corrected and republished. Review.

2

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. 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

3

Sacred disease secrets revealed: the genetics of human epilepsy.

Turnbull J, Lohi H, Kearney JA, Rouleau GA, Delgado-Escueta AV, Meisler MH, Cossette P, Minassian BA. Turnbull J, et al. Among authors: lohi h. Hum Mol Genet. 2005 Oct 15;14 Spec No. 2:2491-2500. Hum Mol Genet. 2005. PMID: 16278970 Review.

4

A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome.

Mnatzakanian GN, Lohi H, Munteanu I, Alfred SE, Yamada T, MacLeod PJ, Jones JR, Scherer SW, Schanen NC, Friez MJ, Vincent JB, Minassian BA. Mnatzakanian GN, et al. Among authors: lohi h. Nat Genet. 2004 Apr;36(4):339-41. doi: 10.1038/ng1327. Epub 2004 Mar 21. Nat Genet. 2004. PMID: 15034579

5

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: lohi h. 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

6

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

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

8

Early-onset Lafora body disease.

Turnbull J, Girard JM, Lohi H, Chan EM, Wang P, Tiberia E, Omer S, Ahmed M, Bennett C, Chakrabarty A, Tyagi A, Liu Y, Pencea N, Zhao X, Scherer SW, Ackerley CA, Minassian BA. Turnbull J, et al. Among authors: lohi h. Brain. 2012 Sep;135(Pt 9):2684-98. doi: 10.1093/brain/aws205. Brain. 2012. PMID: 22961547 Free PMC article.

9

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. Adv Neurol. 2006;97:399-415. Adv Neurol. 2006. PMID: 16383151 Review. No abstract available.

10

Genetic diagnosis in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls.

Lohi H, Turnbull J, Zhao XC, Pullenayegum S, Ianzano L, Yahyaoui M, Mikati MA, Quinn NP, Franceschetti S, Zara F, Minassian BA. Lohi H, et al. Neurology. 2007 Mar 27;68(13):996-1001. doi: 10.1212/01.wnl.0000258561.02248.2f. Neurology. 2007. PMID: 17389303

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