Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 25

1.

Mutations in the NHLRC1 gene are the common cause for Lafora disease in the Japanese population.

Singh S, Suzuki T, Uchiyama A, Kumada S, Moriyama N, Hirose S, Takahashi Y, Sugie H, Mizoguchi K, Inoue Y, Kimura K, Sawaishi Y, Yamakawa K, Ganesh S.

J Hum Genet. 2005;50(7):347-52. Epub 2005 Jul 15.

PMID:
16021330
[PubMed - indexed for MEDLINE]
2.

Lafora progressive myoclonus epilepsy: a meta-analysis of reported mutations in the first decade following the discovery of the EPM2A and NHLRC1 genes.

Singh S, Ganesh S.

Hum Mutat. 2009 May;30(5):715-23. doi: 10.1002/humu.20954. Review.

PMID:
19267391
[PubMed - indexed for MEDLINE]
3.

Recent advances in the molecular basis of Lafora's progressive myoclonus epilepsy.

Ganesh S, Puri R, Singh S, Mittal S, Dubey D.

J Hum Genet. 2006;51(1):1-8. Epub 2005 Nov 26. Review.

PMID:
16311711
[PubMed - indexed for MEDLINE]
4.

Lafora progressive myoclonus epilepsy: recent insights into cell degeneration.

Spuch C, Ortolano S, Navarro C.

Recent Pat Endocr Metab Immune Drug Discov. 2012 May;6(2):99-107. Review.

PMID:
22369717
[PubMed - indexed for MEDLINE]
5.

Lafora disease: severe phenotype associated with homozygous deletion of the NHLRC1 gene.

Kecmanović M, Jović N, Cukić M, Keckarević-Marković M, Keckarević D, Stevanović G, Romac S.

J Neurol Sci. 2013 Feb 15;325(1-2):170-3. doi: 10.1016/j.jns.2012.12.006. Epub 2013 Jan 11. Review.

PMID:
23317923
[PubMed - indexed for MEDLINE]
6.

Advances in lafora progressive myoclonus epilepsy.

Delgado-Escueta AV.

Curr Neurol Neurosci Rep. 2007 Sep;7(5):428-33. Review.

PMID:
17764634
[PubMed - indexed for MEDLINE]
7.

Phenotype variations in Lafora progressive myoclonus epilepsy: possible involvement of genetic modifiers?

Singh S, Ganesh S.

J Hum Genet. 2012 May;57(5):283-5. doi: 10.1038/jhg.2012.29. Epub 2012 Mar 29. Review.

PMID:
22456482
[PubMed - indexed for MEDLINE]
8.

[Molecular genetics of epilepsy].

Yamakawa K.

Rinsho Shinkeigaku. 2004 Nov;44(11):858-60. Review. Japanese.

PMID:
15651314
[PubMed - indexed for MEDLINE]
9.

Deciphering the role of malin in the lafora progressive myoclonus epilepsy.

Romá-Mateo C, Sanz P, Gentry MS.

IUBMB Life. 2012 Oct;64(10):801-8. doi: 10.1002/iub.1072. Epub 2012 Jul 20. Review.

PMID:
22815132
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

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

Minassian BA.

Pediatr Neurol. 2001 Jul;25(1):21-9. Review.

PMID:
11483392
[PubMed - indexed for MEDLINE]
11.

Advances in the genetics of progressive myoclonus epilepsy.

Delgado-Escueta AV, Ganesh S, Yamakawa K.

Am J Med Genet. 2001 Summer;106(2):129-38. Review.

PMID:
11579433
[PubMed - indexed for MEDLINE]
12.

Progressive myoclonus epilepsies: EPM1, EPM2A, EPM2B.

Chan EM, Andrade DM, Franceschetti S, Minassian B.

Adv Neurol. 2005;95:47-57. Review. No abstract available.

PMID:
15508913
[PubMed - indexed for MEDLINE]
13.

MTM1 mutations in X-linked myotubular myopathy.

Laporte J, Biancalana V, Tanner SM, Kress W, Schneider V, Wallgren-Pettersson C, Herger F, Buj-Bello A, Blondeau F, Liechti-Gallati S, Mandel JL.

Hum Mutat. 2000;15(5):393-409. Review.

PMID:
10790201
[PubMed - indexed for MEDLINE]
14.

Lafora disease: epidemiology, pathophysiology and management.

Monaghan TS, Delanty N.

CNS Drugs. 2010 Jul;24(7):549-61. doi: 10.2165/11319250-000000000-00000. Review.

PMID:
20527995
[PubMed - indexed for MEDLINE]
15.

[Lafora's disease (EPM2)].

Genton P.

Rev Neurol (Paris). 2007 Jan;163(1):47-53. Review. French.

PMID:
17304172
[PubMed - indexed for MEDLINE]
16.

Debate: Does genetic information in humans help us treat patients? PRO--genetic information in humans helps us treat patients. CON--genetic information does not help at all.

Delgado-Escueta AV, Bourgeois BF.

Epilepsia. 2008 Dec;49 Suppl 9:13-24. doi: 10.1111/j.1528-1167.2008.01922.x. Review.

PMID:
19087113
[PubMed - indexed for MEDLINE]
17.

AVPR2 variants and mutations in nephrogenic diabetes insipidus: review and missense mutation significance.

Spanakis E, Milord E, Gragnoli C.

J Cell Physiol. 2008 Dec;217(3):605-17. doi: 10.1002/jcp.21552. Review.

PMID:
18726898
[PubMed - indexed for MEDLINE]
18.

Progressive myoclonus epilepsy with polyglucosan bodies: Lafora disease.

Minassian BA.

Adv Neurol. 2002;89:199-210. Review. No abstract available.

PMID:
11968446
[PubMed - indexed for MEDLINE]
19.

Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing.

Ferenci P.

Hum Genet. 2006 Sep;120(2):151-9. Epub 2006 Jun 22. Review.

PMID:
16791614
[PubMed - indexed for MEDLINE]
20.

[Lafora disease].

Antoku Y.

Ryoikibetsu Shokogun Shirizu. 2002;(37 Pt 6):249-51. Review. Japanese. No abstract available.

PMID:
12483873
[PubMed - indexed for MEDLINE]
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk