Lohi H - Search Results

1

The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter.

Siintola E, Topcu M, Aula N, Lohi H, Minassian BA, Paterson AD, Liu XQ, Wilson C, Lahtinen U, Anttonen AK, Lehesjoki AE. Siintola E, et al. Among authors: lohi h. Am J Hum Genet. 2007 Jul;81(1):136-46. doi: 10.1086/518902. Epub 2007 May 14. Am J Hum Genet. 2007. PMID: 17564970 Free PMC article.

2

LGI2 truncation causes a remitting focal epilepsy in dogs.

Seppälä EH, Jokinen TS, Fukata M, Fukata Y, Webster MT, Karlsson EK, Kilpinen SK, Steffen F, Dietschi E, Leeb T, Eklund R, Zhao X, Rilstone JJ, Lindblad-Toh K, Minassian BA, Lohi H. Seppälä EH, et al. Among authors: lohi h. PLoS Genet. 2011 Jul;7(7):e1002194. doi: 10.1371/journal.pgen.1002194. Epub 2011 Jul 28. PLoS Genet. 2011. PMID: 21829378 Free PMC article.

3

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

4

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.

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

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.

7

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

8

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.

9

Comprehensive diagnosis of Rett's syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-CpG-binding protein 2 gene: study of a cohort of Israeli patients.

Petel-Galil Y, Ben-Zeev B, Greenbaum I, Vecsler M, Goldman B, Lohi H, Minassian BA, Gak E. Petel-Galil Y, et al. Among authors: lohi h. J Med Genet. 2007 Feb;44(2):e56. J Med Genet. 2007. PMID: 17407838

10

Germline mutation of RPS20, encoding a ribosomal protein, causes predisposition to hereditary nonpolyposis colorectal carcinoma without DNA mismatch repair deficiency.

Nieminen TT, O'Donohue MF, Wu Y, Lohi H, Scherer SW, Paterson AD, Ellonen P, Abdel-Rahman WM, Valo S, Mecklin JP, Järvinen HJ, Gleizes PE, Peltomäki P. Nieminen TT, et al. Among authors: lohi h. Gastroenterology. 2014 Sep;147(3):595-598.e5. doi: 10.1053/j.gastro.2014.06.009. Epub 2014 Jun 15. Gastroenterology. 2014. PMID: 24941021 Free PMC article.

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