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Items: 1 to 20 of 104

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.

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
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.

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
5.

Three patients with lafora disease: different clinical presentations and a novel mutation.

Poyrazoğlu HG, Karaca E, Per H, Gümüs H, Onay H, Canpolat M, Canöz Ö, Ozkınay F, Kumandas S.

J Child Neurol. 2015 May;30(6):777-81. doi: 10.1177/0883073814535489. Epub 2014 Jul 10.

PMID:
25015673
6.

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
7.

Late onset Lafora disease and novel EPM2A mutations: breaking paradigms.

Jara-Prado A, Ochoa A, Alonso ME, Lima Villeda GA, Fernández-Valverde F, Ruano-Calderón L, Vargas-Cañas S, Durón RM, Delgado-Escueta AV, Martínez-Juárez IE.

Epilepsy Res. 2014 Nov;108(9):1501-10. doi: 10.1016/j.eplepsyres.2014.08.017. Epub 2014 Aug 30. Erratum in: Epilepsy Res. 2015 Feb;110:228.

PMID:
25246353
8.

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.

9.

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
10.

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.

11.

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
12.

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
13.

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.

14.
15.

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
16.

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.

17.

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
18.

[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.

19.

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
20.

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
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