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Items: 1 to 20 of 122

1.

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.

Science. 2005 Jan 7;307(5706):81.

2.

NHLRC1 repeat expansion in two beagles with Lafora disease.

Hajek I, Kettner F, Simerdova V, Rusbridge C, Wang P, Minassian BA, Palus V.

J Small Anim Pract. 2016 Nov;57(11):650-652. doi: 10.1111/jsap.12593. Epub 2016 Oct 16.

3.

Canine epilepsy gene mutation identified.

Bradbury J.

Lancet Neurol. 2005 Mar;4(3):143. No abstract available.

PMID:
15744941
4.

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
5.
6.

Progressive myoclonus epilepsy with polyglucosans (Lafora disease): evidence for a third locus.

Chan EM, Omer S, Ahmed M, Bridges LR, Bennett C, Scherer SW, Minassian BA.

Neurology. 2004 Aug 10;63(3):565-7.

PMID:
15304597
7.

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
8.
9.

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.

Neurology. 2007 Mar 27;68(13):996-1001. Erratum in: Neurology. 2007 Jun 12;68(24):2153. Quinn, NP [added].

PMID:
17389303
10.

Allelic variants of the canine heavy neurofilament (NFH) subunit and extensive phosphorylation in dogs with motor neuron disease.

Green SL, Westendorf JM, Jaffe H, Pant HC, Cork LC, Ostrander EA, Vignaux F, Ferrell JE Jr.

J Comp Pathol. 2005 Jan;132(1):33-50.

PMID:
15629478
11.

Molecular basis of canine muscle type phosphofructokinase deficiency.

Smith BF, Stedman H, Rajpurohit Y, Henthorn PS, Wolfe JH, Patterson DF, Giger U.

J Biol Chem. 1996 Aug 16;271(33):20070-4.

12.

Lafora disease in miniature Wirehaired Dachshunds.

Swain L, Key G, Tauro A, Ahonen S, Wang P, Ackerley C, Minassian BA, Rusbridge C.

PLoS One. 2017 Aug 2;12(8):e0182024. doi: 10.1371/journal.pone.0182024. eCollection 2017.

13.

DNA screening for Lafora's disease in miniature wire-haired dachshunds.

Sainsbury R.

Vet Rec. 2011 Sep 10;169(11):292. doi: 10.1136/vr.d5698. No abstract available.

PMID:
21908571
14.

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
15.

Lafora disease due to EPM2B mutations: a clinical and genetic study.

Gómez-Abad C, Gómez-Garre P, Gutiérrez-Delicado E, Saygi S, Michelucci R, Tassinari CA, Rodríguez de Córdoba S, Serratosa JM.

Neurology. 2005 Mar 22;64(6):982-6.

PMID:
15781812
16.

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.

Hum Mutat. 2005 Oct;26(4):397.

PMID:
16134145
17.

Disruption of chromosome 11 in canine fibrosarcomas highlights an unusual variability of CDKN2B in dogs.

Aguirre-Hernández J, Milne BS, Queen C, O'Brien PC, Hoather T, Haugland S, Ferguson-Smith MA, Dobson JM, Sargan DR.

BMC Vet Res. 2009 Jul 31;5:27. doi: 10.1186/1746-6148-5-27.

18.

Typical progression of myoclonic epilepsy of the Lafora type: a case report.

Striano P, Zara F, Turnbull J, Girard JM, Ackerley CA, Cervasio M, De Rosa G, Del Basso-De Caro ML, Striano S, Minassian BA.

Nat Clin Pract Neurol. 2008 Feb;4(2):106-11. doi: 10.1038/ncpneuro0706.

PMID:
18256682
19.

Rapidly progressive phenotype of Lafora disease associated with a novel NHLRC1 mutation.

Brackmann FA, Kiefer A, Agaimy A, Gencik M, Trollmann R.

Pediatr Neurol. 2011 Jun;44(6):475-7. doi: 10.1016/j.pediatrneurol.2011.01.012.

PMID:
21555062
20.

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.

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