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Results: 1 to 20 of 53

1.

Kv1.1 knock-in ataxic mice exhibit spontaneous myokymic activity exacerbated by fatigue, ischemia and low temperature.

Brunetti O, Imbrici P, Botti FM, Pettorossi VE, D'Adamo MC, Valentino M, Zammit C, Mora M, Gibertini S, Di Giovanni G, Muscat R, Pessia M.

Neurobiol Dis. 2012 Sep;47(3):310-21. doi: 10.1016/j.nbd.2012.05.002. Epub 2012 May 17.

PMID:
22609489
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Episodic ataxia type 1 mutations affect fast inactivation of K+ channels by a reduction in either subunit surface expression or affinity for inactivation domain.

Imbrici P, D'Adamo MC, Grottesi A, Biscarini A, Pessia M.

Am J Physiol Cell Physiol. 2011 Jun;300(6):C1314-22. doi: 10.1152/ajpcell.00456.2010. Epub 2011 Feb 9.

PMID:
21307345
[PubMed - indexed for MEDLINE]
Free Article
3.

Nerve excitability studies characterize Kv1.1 fast potassium channel dysfunction in patients with episodic ataxia type 1.

Tomlinson SE, Tan SV, Kullmann DM, Griggs RC, Burke D, Hanna MG, Bostock H.

Brain. 2010 Dec;133(Pt 12):3530-40. doi: 10.1093/brain/awq318. Epub 2010 Nov 23.

PMID:
21106501
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Nongenetic factors influence severity of episodic ataxia type 1 in monozygotic twins.

Graves TD, Rajakulendran S, Zuberi SM, Morris HR, Schorge S, Hanna MG, Kullmann DM.

Neurology. 2010 Jul 27;75(4):367-72. doi: 10.1212/WNL.0b013e3181ea9ee3.

PMID:
20660867
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Human potassium channel genes: Molecular cloning and functional expression.

Ramaswami M, Gautam M, Kamb A, Rudy B, Tanouye MA, Mathew MK.

Mol Cell Neurosci. 1990 Dec;1(3):214-23.

PMID:
19912772
[PubMed]
6.

A missense mutation in the Kv1.1 voltage-gated potassium channel-encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia.

Glaudemans B, van der Wijst J, Scola RH, Lorenzoni PJ, Heister A, van der Kemp AW, Knoers NV, Hoenderop JG, Bindels RJ.

J Clin Invest. 2009 Apr;119(4):936-42. doi: 10.1172/JCI36948. Epub 2009 Mar 23.

PMID:
19307729
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

A novel KCNA1 mutation associated with global delay and persistent cerebellar dysfunction.

Demos MK, Macri V, Farrell K, Nelson TN, Chapman K, Accili E, Armstrong L.

Mov Disord. 2009 Apr 15;24(5):778-82. doi: 10.1002/mds.22467.

PMID:
19205071
[PubMed - indexed for MEDLINE]
8.

Contribution of the central hydrophobic residue in the PXP motif of voltage-dependent K+ channels to S6 flexibility and gating properties.

Imbrici P, Grottesi A, D'Adamo MC, Mannucci R, Tucker SJ, Pessia M.

Channels (Austin). 2009 Jan-Feb;3(1):39-45. Epub 2009 Jan 3.

PMID:
19202350
[PubMed - indexed for MEDLINE]
Free Article
9.

Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake.

de Vries B, Mamsa H, Stam AH, Wan J, Bakker SL, Vanmolkot KR, Haan J, Terwindt GM, Boon EM, Howard BD, Frants RR, Baloh RW, Ferrari MD, Jen JC, van den Maagdenberg AM.

Arch Neurol. 2009 Jan;66(1):97-101. doi: 10.1001/archneurol.2008.535. Erratum in: Arch Neurol. 2009 Jun;66(6):772. Arch Neurol. 2009 Apr;66(4):497.

PMID:
19139306
[PubMed - indexed for MEDLINE]
10.

A novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1.

Imbrici P, Gualandi F, D'Adamo MC, Masieri MT, Cudia P, De Grandis D, Mannucci R, Nicoletti I, Tucker SJ, Ferlini A, Pessia M.

Neuroscience. 2008 Dec 2;157(3):577-87. doi: 10.1016/j.neuroscience.2008.09.022. Epub 2008 Sep 24.

PMID:
18926884
[PubMed - indexed for MEDLINE]
11.

Novel mutation in KCNA1 causes episodic ataxia with paroxysmal dyspnea.

Shook SJ, Mamsa H, Jen JC, Baloh RW, Zhou L.

Muscle Nerve. 2008 Mar;37(3):399-402.

PMID:
17912752
[PubMed - indexed for MEDLINE]
12.

A new episodic ataxia syndrome with linkage to chromosome 19q13.

Kerber KA, Jen JC, Lee H, Nelson SF, Baloh RW.

Arch Neurol. 2007 May;64(5):749-52.

PMID:
17502476
[PubMed - indexed for MEDLINE]
13.

Episodic ataxia type 1: a neuronal potassium channelopathy.

Rajakulendran S, Schorge S, Kullmann DM, Hanna MG.

Neurotherapeutics. 2007 Apr;4(2):258-66. Review.

PMID:
17395136
[PubMed - indexed for MEDLINE]
14.

Episodic ataxia type 1 mutations in the KCNA1 gene impair the fast inactivation properties of the human potassium channels Kv1.4-1.1/Kvbeta1.1 and Kv1.4-1.1/Kvbeta1.2.

Imbrici P, D'Adamo MC, Kullmann DM, Pessia M.

Eur J Neurosci. 2006 Dec;24(11):3073-83.

PMID:
17156368
[PubMed - indexed for MEDLINE]
15.

Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia.

Chen H, von Hehn C, Kaczmarek LK, Ment LR, Pober BR, Hisama FM.

Neurogenetics. 2007 Apr;8(2):131-5. Epub 2006 Nov 29.

PMID:
17136396
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Episodic ataxia type 1 mutation F184C alters Zn2+-induced modulation of the human K+ channel Kv1.4-Kv1.1/Kvbeta1.1.

Imbrici P, D'Adamo MC, Cusimano A, Pessia M.

Am J Physiol Cell Physiol. 2007 Feb;292(2):C778-87. Epub 2006 Sep 6.

PMID:
16956965
[PubMed - indexed for MEDLINE]
Free Article
17.

Genetic heterogeneity in paroxysmal nonkinesigenic dyskinesia.

Spacey SD, Adams PJ, Lam PC, Materek LA, Stoessl AJ, Snutch TP, Hsiung GY.

Neurology. 2006 May 23;66(10):1588-90.

PMID:
16717228
[PubMed - indexed for MEDLINE]
18.

Neuromyotonia and limbic encephalitis sera target mature Shaker-type K+ channels: subunit specificity correlates with clinical manifestations.

Kleopa KA, Elman LB, Lang B, Vincent A, Scherer SS.

Brain. 2006 Jun;129(Pt 6):1570-84. Epub 2006 Apr 13.

PMID:
16613892
[PubMed - indexed for MEDLINE]
Free Article
19.

Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures.

Jen JC, Wan J, Palos TP, Howard BD, Baloh RW.

Neurology. 2005 Aug 23;65(4):529-34.

PMID:
16116111
[PubMed - indexed for MEDLINE]
20.

A genome-wide screen and linkage mapping for a large pedigree with episodic ataxia.

Cader MZ, Steckley JL, Dyment DA, McLachlan RS, Ebers GC.

Neurology. 2005 Jul 12;65(1):156-8.

PMID:
16009908
[PubMed - indexed for MEDLINE]

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