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Items: 12

1.

Meta-analysis identifies seven susceptibility loci involved in the atopic march.

Marenholz I, Esparza-Gordillo J, Rüschendorf F, Bauerfeind A, Strachan DP, Spycher BD, Baurecht H, Margaritte-Jeannin P, Sääf A, Kerkhof M, Ege M, Baltic S, Matheson MC, Li J, Michel S, Ang WQ, McArdle W, Arnold A, Homuth G, Demenais F, Bouzigon E, Söderhäll C, Pershagen G, de Jongste JC, Postma DS, Braun-Fahrländer C, Horak E, Ogorodova LM, Puzyrev VP, Bragina EY, Hudson TJ, Morin C, Duffy DL, Marks GB, Robertson CF, Montgomery GW, Musk B, Thompson PJ, Martin NG, James A, Sleiman P, Toskala E, Rodriguez E, Fölster-Holst R, Franke A, Lieb W, Gieger C, Heinzmann A, Rietschel E, Keil T, Cichon S, Nöthen MM, Pennell CE, Sly PD, Schmidt CO, Matanovic A, Schneider V, Heinig M, Hübner N, Holt PG, Lau S, Kabesch M, Weidinger S, Hakonarson H, Ferreira MA, Laprise C, Freidin MB, Genuneit J, Koppelman GH, Melén E, Dizier MH, Henderson AJ, Lee YA.

Nat Commun. 2015 Nov 6;6:8804. doi: 10.1038/ncomms9804.

2.

Genetic investigation of sudden unexpected death in epilepsy cohort by panel target resequencing.

Coll M, Allegue C, Partemi S, Mates J, Del Olmo B, Campuzano O, Pascali V, Iglesias A, Striano P, Oliva A, Brugada R.

Int J Legal Med. 2016 Mar;130(2):331-9. doi: 10.1007/s00414-015-1269-0. Epub 2015 Sep 30.

PMID:
26423924
3.

Commentary: Pathogenic EFHC1 mutations are tolerated in healthy individuals dependent on reported ancestry.

Pal D, Helbig I.

Epilepsia. 2015 Feb;56(2):195-6. doi: 10.1111/epi.12906. Epub 2015 Feb 3. No abstract available.

4.

Predictive value of EFHC1 variants for the long-term seizure outcome in juvenile myoclonic epilepsy.

von Podewils F, Kowoll V, Schroeder W, Geithner J, Wang ZI, Gaida B, Bombach P, Kessler C, Felbor U, Runge U.

Epilepsy Behav. 2015 Mar;44:61-6. doi: 10.1016/j.yebeh.2014.12.016. Epub 2015 Jan 24.

PMID:
25625532
5.

Pathogenic EFHC1 mutations are tolerated in healthy individuals dependent on reported ancestry.

Subaran RL, Conte JM, Stewart WC, Greenberg DA.

Epilepsia. 2015 Feb;56(2):188-94. doi: 10.1111/epi.12864. Epub 2014 Dec 8.

6.

Re-evaluation of myoclonin1 immunosignals in neuron, mitotic spindle, and midbody--nonspecific?

Yamakawa K, Suzuki T.

Epilepsy Behav. 2013 Jul;28 Suppl 1:S61-2. doi: 10.1016/j.yebeh.2012.06.032. Review.

PMID:
23756482
7.

Juvenile myoclonic epilepsy as a possible neurodevelopmental disease: role of EFHC1 or Myoclonin1.

de Nijs L, Wolkoff N, Grisar T, Lakaye B.

Epilepsy Behav. 2013 Jul;28 Suppl 1:S58-60. doi: 10.1016/j.yebeh.2012.06.034. Review.

PMID:
23756481
8.

The quest for juvenile myoclonic epilepsy genes.

Delgado-Escueta AV, Koeleman BP, Bailey JN, Medina MT, Durón RM.

Epilepsy Behav. 2013 Jul;28 Suppl 1:S52-7. doi: 10.1016/j.yebeh.2012.06.033. Review.

PMID:
23756480
9.

Mutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain development.

de Nijs L, Wolkoff N, Coumans B, Delgado-Escueta AV, Grisar T, Lakaye B.

Hum Mol Genet. 2012 Dec 1;21(23):5106-17. doi: 10.1093/hmg/dds356. Epub 2012 Aug 27.

10.

Novel Myoclonin1/EFHC1 mutations in Mexican patients with juvenile myoclonic epilepsy.

Jara-Prado A, Martínez-Juárez IE, Ochoa A, González VM, Fernández-González-Aragón Mdel C, López-Ruiz M, Medina MT, Bailey JN, Delgado-Escueta AV, Alonso ME.

Seizure. 2012 Sep;21(7):550-4. doi: 10.1016/j.seizure.2012.05.016. Epub 2012 Jun 22.

11.

Intractable epilepsy of infancy due to homozygous mutation in the EFHC1 gene.

Berger I, Dor T, Halvardson J, Edvardson S, Shaag A, Feuk L, Elpeleg O.

Epilepsia. 2012 Aug;53(8):1436-40. doi: 10.1111/j.1528-1167.2012.03536.x. Epub 2012 Jun 12.

12.

The juvenile myoclonic epilepsy-related protein EFHC1 interacts with the redox-sensitive TRPM2 channel linked to cell death.

Katano M, Numata T, Aguan K, Hara Y, Kiyonaka S, Yamamoto S, Miki T, Sawamura S, Suzuki T, Yamakawa K, Mori Y.

Cell Calcium. 2012 Feb;51(2):179-85. doi: 10.1016/j.ceca.2011.12.011. Epub 2012 Jan 4.

PMID:
22226147

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