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Results: 1 to 20 of 99

1.

A novel nonsense mutation of the EPM2A gene in northwest Greece causing myoclonic epilepsy.

Chatzistefanidis D, Giaka K, Georgiou I, Kyritsis AP, Markoula S.

Seizure. 2013 May;22(4):315-7. doi: 10.1016/j.seizure.2012.12.014. Epub 2013 Jan 11. No abstract available.

PMID:
23313408
[PubMed - indexed for MEDLINE]
Free Article
2.

A novel exon 3 mutation in a Tunisian patient with Lafora's disease.

Khiari HM, Lesca G, Malafosse A, Mrabet A.

J Neurol Sci. 2011 May 15;304(1-2):136-7. doi: 10.1016/j.jns.2011.02.011. Epub 2011 Mar 3.

PMID:
21371719
[PubMed - indexed for MEDLINE]
3.

Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease.

Lesca G, Boutry-Kryza N, de Toffol B, Milh M, Steschenko D, Lemesle-Martin M, Maillard L, Foletti G, Rudolf G, Nielsen JE, á Rogvi-Hansen B, Erdal J, Mancini J, Thauvin-Robinet C, M'Rrabet A, Ville D, Szepetowski P, Raffo E, Hirsch E, Ryvlin P, Calender A, Genton P.

Epilepsia. 2010 Sep;51(9):1691-8. doi: 10.1111/j.1528-1167.2010.02692.x. Epub 2010 Aug 5.

PMID:
20738377
[PubMed - indexed for MEDLINE]
4.

[Myoclonic epilepsy of Lafora: a case report].

Rudenskaia GE, Zakharova EIu, Karpin SL, Uchaev DA.

Zh Nevrol Psikhiatr Im S S Korsakova. 2010;110(3 Suppl 2):11-6. Russian.

PMID:
20873469
[PubMed - indexed for MEDLINE]
5.

Four novel and two recurrent NHLRC1 (EPM2B) and EPM2A gene mutations leading to Lafora disease in six Turkish families.

Salar S, Yeni N, Gündüz A, Güler A, Gökçay A, Velioğlu S, Gündoğdu A, Hande Çağlayan S.

Epilepsy Res. 2012 Feb;98(2-3):273-6. doi: 10.1016/j.eplepsyres.2011.09.020. Epub 2011 Nov 1.

PMID:
22047982
[PubMed - indexed for MEDLINE]
6.

Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions.

Gómez-Garre P, Sanz Y, Rodríguez De Córdoba SR, Serratosa JM.

Eur J Hum Genet. 2000 Dec;8(12):946-54.

PMID:
11175283
[PubMed - indexed for MEDLINE]
Free Article
7.

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

Minassian BA, Ianzano L, Delgado-Escueta AV, Scherer SW.

Neurology. 2000 Jan 25;54(2):488-90.

PMID:
10668720
[PubMed - indexed for MEDLINE]
8.

Lafora disease: a case report, pathologic and genetic study.

Harirchian MH, Shandiz EE, Turnbull J, Minassian BA, Shahsiah R.

Indian J Pathol Microbiol. 2011 Apr-Jun;54(2):374-5. doi: 10.4103/0377-4929.81645.

PMID:
21623095
[PubMed - indexed for MEDLINE]
Free Article
9.

Novel human pathological mutations. Gene symbol: EPM2A. Disease: Lafora progressive myoclonus epilepsy.

Trujillo-Tiebas MJ, Fenollar-Cortés M, Gómez-Garré P, Lorda-Sánchez I, Serratosa JM, Ayuso García C.

Hum Genet. 2007 Jun;121(5):651. No abstract available.

PMID:
17879451
[PubMed - indexed for MEDLINE]
10.

Hepatic disease as the first manifestation of progressive myoclonus epilepsy of Lafora.

Gómez-Garre P, Gutiérrez-Delicado E, Gómez-Abad C, Morales-Corraliza J, Villanueva VE, Rodríguez de Córdoba S, Larrauri J, Gutiérrez M, Berciano J, Serratosa JM.

Neurology. 2007 Apr 24;68(17):1369-73.

PMID:
17452581
[PubMed - indexed for MEDLINE]
11.

Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype.

Ganesh S, Delgado-Escueta AV, Suzuki T, Francheschetti S, Riggio C, Avanzini G, Rabinowicz A, Bohlega S, Bailey J, Alonso ME, Rasmussen A, Thomson AE, Ochoa A, Prado AJ, Medina MT, Yamakawa K.

Hum Mol Genet. 2002 May 15;11(11):1263-71.

PMID:
12019207
[PubMed - indexed for MEDLINE]
Free Article
12.

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]
13.

Bioptically demonstrated Lafora disease without EPM2A mutation: a clinical and neurophysiological study of two sisters.

Boccella P, Striano P, Zara F, Barbieri F, Sarappa C, Vacca G, de Falco FA, Striano S.

Clin Neurol Neurosurg. 2003 Dec;106(1):55-9.

PMID:
14643920
[PubMed - indexed for MEDLINE]
14.

Identification and characterization of novel splice variants of the human EPM2A gene mutated in Lafora progressive myoclonus epilepsy.

Dubey D, Parihar R, Ganesh S.

Genomics. 2012 Jan;99(1):36-43. doi: 10.1016/j.ygeno.2011.10.001. Epub 2011 Oct 19.

PMID:
22036712
[PubMed - indexed for MEDLINE]
Free Article
15.

Lafora disease in the Indian population: EPM2A and NHLRC1 gene mutations and their impact on subcellular localization of laforin and malin.

Singh S, Satishchandra P, Shankar SK, Ganesh S.

Hum Mutat. 2008 Jun;29(6):E1-12. doi: 10.1002/humu.20737.

PMID:
18311786
[PubMed - indexed for MEDLINE]
16.

[Lafora disease. A new case of confirmation of diagnosis on molecular genetic studies].

Martínez-Bermejo A, López-Martín V, Serratosa JM, Gutiérrez-Molina M, Gómez-Garre P, Arcas J, Tendero A, Roche C, Pérez-Mies B.

Rev Neurol. 2002 Jan 16-31;34(2):117-20. Spanish.

PMID:
11988905
[PubMed - indexed for MEDLINE]
Free Article
17.

Gene symbol: EPM2A.

Trujillo-Tiebas MJ, Gómez-Garré P, Fenolla-Cortés M, Lorda-Sánchez I, Serratosa JM, Ayuso C.

Hum Genet. 2007 Apr;121(2):289. No abstract available.

PMID:
17598204
[PubMed - indexed for MEDLINE]
18.

Gene symbol: EPM2A.

Trujillo-Tiebas MJ, Gómez-garré P, Arguirre-Lambán J, Lorda-Sánchez I, Serratosa JM, Ayuso C.

Hum Genet. 2007 Apr;121(2):289-90. No abstract available.

PMID:
17598229
[PubMed - indexed for MEDLINE]
19.

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.

Nat Genet. 2003 Oct;35(2):125-7. Epub 2003 Sep 7.

PMID:
12958597
[PubMed - indexed for MEDLINE]
20.

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]

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