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Results: 1 to 20 of 105

1.

Axonemal protofilament ribbons, DM10 domains, and the link to juvenile myoclonic epilepsy.

King SM.

Cell Motil Cytoskeleton. 2006 May;63(5):245-53.

PMID:
16572395
[PubMed - indexed for MEDLINE]
2.

The mouse ortholog of EFHC1 implicated in juvenile myoclonic epilepsy is an axonemal protein widely conserved among organisms with motile cilia and flagella.

Ikeda T, Ikeda K, Enomoto M, Park MK, Hirono M, Kamiya R.

FEBS Lett. 2005 Jan 31;579(3):819-22.

PMID:
15670853
[PubMed - indexed for MEDLINE]
Free Article
3.

Characterization of the C-terminal half of human juvenile myoclonic epilepsy protein EFHC1: dimer formation blocks Ca2+ and Mg2+ binding to its functional EF-hand.

Murai MJ, Sassonia RC, Zamboni AH, Conte FF, Martins-de-Souza D, Aparicio R, de Oliveira MG, Lopes-Cendes I.

Arch Biochem Biophys. 2008 Sep 1;477(1):131-8. doi: 10.1016/j.abb.2008.06.008. Epub 2008 Jun 19.

PMID:
18593566
[PubMed - indexed for MEDLINE]
4.

Mutations in EFHC1 cause juvenile myoclonic epilepsy.

Suzuki T, Delgado-Escueta AV, Aguan K, Alonso ME, Shi J, Hara Y, Nishida M, Numata T, Medina MT, Takeuchi T, Morita R, Bai D, Ganesh S, Sugimoto Y, Inazawa J, Bailey JN, Ochoa A, Jara-Prado A, Rasmussen A, Ramos-Peek J, Cordova S, Rubio-Donnadieu F, Inoue Y, Osawa M, Kaneko S, Oguni H, Mori Y, Yamakawa K.

Nat Genet. 2004 Aug;36(8):842-9. Epub 2004 Jul 18.

PMID:
15258581
[PubMed - indexed for MEDLINE]
5.

EFHC1, a protein mutated in juvenile myoclonic epilepsy, associates with the mitotic spindle through its N-terminus.

de Nijs L, Lakaye B, Coumans B, Léon C, Ikeda T, Delgado-Escueta AV, Grisar T, Chanas G.

Exp Cell Res. 2006 Sep 10;312(15):2872-9. Epub 2006 May 26.

PMID:
16824517
[PubMed - indexed for MEDLINE]
6.

DNA variants in coding region of EFHC1: SNPs do not associate with juvenile myoclonic epilepsy.

Bai D, Bailey JN, Durón RM, Alonso ME, Medina MT, Martínez-Juárez IE, Suzuki T, Machado-Salas J, Ramos-Ramírez R, Tanaka M, Ortega RH, López-Ruiz M, Rasmussen A, Ochoa A, Jara-Prado A, Yamakawa K, Delgado-Escueta AV.

Epilepsia. 2009 May;50(5):1184-90. doi: 10.1111/j.1528-1167.2008.01762.x.

PMID:
18823326
[PubMed - indexed for MEDLINE]
7.

The Chlamydomonas MBO2 locus encodes a conserved coiled-coil protein important for flagellar waveform conversion.

Tam LW, Lefebvre PA.

Cell Motil Cytoskeleton. 2002 Apr;51(4):197-212.

PMID:
11977094
[PubMed - indexed for MEDLINE]
8.

Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy.

Medina MT, Suzuki T, Alonso ME, Durón RM, Martínez-Juárez IE, Bailey JN, Bai D, Inoue Y, Yoshimura I, Kaneko S, Montoya MC, Ochoa A, Prado AJ, Tanaka M, Machado-Salas J, Fujimoto S, Ito M, Hamano S, Sugita K, Ueda Y, Osawa M, Oguni H, Rubio-Donnadieu F, Yamakawa K, Delgado-Escueta AV.

Neurology. 2008 May 27;70(22 Pt 2):2137-44. doi: 10.1212/01.wnl.0000313149.73035.99.

PMID:
18505993
[PubMed - indexed for MEDLINE]
9.

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
[PubMed - indexed for MEDLINE]
10.

Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy.

Annesi F, Gambardella A, Michelucci R, Bianchi A, Marini C, Canevini MP, Capovilla G, Elia M, Buti D, Chifari R, Striano P, Rocca FE, Castellotti B, Cali F, Labate A, Lepiane E, Besana D, Sofia V, Tabiadon G, Tortorella G, Vigliano P, Vignoli A, Beccaria F, Annesi G, Striano S, Aguglia U, Guerrini R, Quattrone A.

Epilepsia. 2007 Sep;48(9):1686-90. Epub 2007 Jul 18.

PMID:
17634063
[PubMed - indexed for MEDLINE]
11.

Rib72, a conserved protein associated with the ribbon compartment of flagellar A-microtubules and potentially involved in the linkage between outer doublet microtubules.

Ikeda K, Brown JA, Yagi T, Norrander JM, Hirono M, Eccleston E, Kamiya R, Linck RW.

J Biol Chem. 2003 Feb 28;278(9):7725-34. Epub 2002 Nov 14.

PMID:
12435737
[PubMed - indexed for MEDLINE]
Free Article
12.

Heterogeneity at the JME 6p11-12 locus: absence of mutations in the EFHC1 gene in linked Dutch families.

Pinto D, Louwaars S, Westland B, Volkers L, de Haan GJ, Trenité DG, Lindhout D, Koeleman BP.

Epilepsia. 2006 Oct;47(10):1743-6.

PMID:
17054699
[PubMed - indexed for MEDLINE]
13.

Juvenile myoclonic epilepsy with generalised and focal electroencephalographic abnormalities: a case report with a molecular genetic study.

Bartocci A, Elia M, Calì F, Tiacci C, Cantisani AT, Perticoni G.

Neurol Sci. 2007 Oct;28(5):276-8. Epub 2007 Oct 31.

PMID:
17972043
[PubMed - indexed for MEDLINE]
14.

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.

PMID:
22727576
[PubMed - indexed for MEDLINE]
Free Article
15.

A new EF-hand containing gene EFHC2 on Xp11.4: tentative evidence for association with juvenile myoclonic epilepsy.

Gu W, Sander T, Heils A, Lenzen KP, Steinlein OK.

Epilepsy Res. 2005 Aug-Sep;66(1-3):91-8.

PMID:
16112844
[PubMed - indexed for MEDLINE]
16.

Mutations in the GABRA1 and EFHC1 genes are rare in familial juvenile myoclonic epilepsy.

Ma S, Blair MA, Abou-Khalil B, Lagrange AH, Gurnett CA, Hedera P.

Epilepsy Res. 2006 Oct;71(2-3):129-34. Epub 2006 Jul 12.

PMID:
16839746
[PubMed - indexed for MEDLINE]
17.

A novel neuronal calcium sensor family protein, calaxin, is a potential Ca(2+)-dependent regulator for the outer arm dynein of metazoan cilia and flagella.

Mizuno K, Padma P, Konno A, Satouh Y, Ogawa K, Inaba K.

Biol Cell. 2009 Feb;101(2):91-103. doi: 10.1042/BC20080032.

PMID:
18620543
[PubMed - indexed for MEDLINE]
18.

Expression profile and distribution of Efhc1 gene transcript during rodent brain development.

Conte FF, Ribeiro PA, Marchesini RB, Pascoal VD, Silva JM, Oliveira AR, Gilioli R, Sbragia L, Bittencourt JC, Lopes-Cendes I.

J Mol Neurosci. 2009 Sep;39(1-2):69-77. doi: 10.1007/s12031-009-9179-6. Epub 2009 Feb 4.

PMID:
19191033
[PubMed - indexed for MEDLINE]
19.

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
[PubMed - indexed for MEDLINE]
20.

The Rib43a protein is associated with forming the specialized protofilament ribbons of flagellar microtubules in Chlamydomonas.

Norrander JM, deCathelineau AM, Brown JA, Porter ME, Linck RW.

Mol Biol Cell. 2000 Jan;11(1):201-15.

PMID:
10637302
[PubMed - indexed for MEDLINE]
Free PMC Article

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