Bendahhou S - Search Results

1

Functional consequences of chloride channel gene (CLCN1) mutations causing myotonia congenita.

Zhang J, Bendahhou S, Sanguinetti MC, Ptácek LJ. Zhang J, et al. Among authors: bendahhou s. Neurology. 2000 Feb 22;54(4):937-42. doi: 10.1212/wnl.54.4.937. Neurology. 2000. PMID: 10690989

2

Characterization of a new sodium channel mutation at arginine 1448 associated with moderate Paramyotonia congenita in humans.

Bendahhou S, Cummins TR, Kwiecinski H, Waxman SG, Ptácek LJ. Bendahhou S, et al. J Physiol. 1999 Jul 15;518 ( Pt 2)(Pt 2):337-44. doi: 10.1111/j.1469-7793.1999.0337p.x. J Physiol. 1999. PMID: 10381583 Free PMC article. Clinical Trial.

3

Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis.

Bendahhou S, Cummins TR, Griggs RC, Fu YH, Ptácek LJ. Bendahhou S, et al. Ann Neurol. 2001 Sep;50(3):417-20. doi: 10.1002/ana.1144. Ann Neurol. 2001. PMID: 11558801

4

Impairment of slow inactivation as a common mechanism for periodic paralysis in DIIS4-S5.

Bendahhou S, Cummins TR, Kula RW, Fu YH, Ptácek LJ. Bendahhou S, et al. Neurology. 2002 Apr 23;58(8):1266-72. doi: 10.1212/wnl.58.8.1266. Neurology. 2002. PMID: 11971097

5

PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome.

Donaldson MR, Jensen JL, Tristani-Firouzi M, Tawil R, Bendahhou S, Suarez WA, Cobo AM, Poza JJ, Behr E, Wagstaff J, Szepetowski P, Pereira S, Mozaffar T, Escolar DM, Fu YH, Ptácek LJ. Donaldson MR, et al. Among authors: bendahhou s. Neurology. 2003 Jun 10;60(11):1811-6. doi: 10.1212/01.wnl.0000072261.14060.47. Neurology. 2003. PMID: 12796536

6

Activation and inactivation of the voltage-gated sodium channel: role of segment S5 revealed by a novel hyperkalaemic periodic paralysis mutation.

Bendahhou S, Cummins TR, Tawil R, Waxman SG, Ptácek LJ. Bendahhou S, et al. J Neurosci. 1999 Jun 15;19(12):4762-71. doi: 10.1523/JNEUROSCI.19-12-04762.1999. J Neurosci. 1999. PMID: 10366610 Free PMC article.

7

A double mutation in families with periodic paralysis defines new aspects of sodium channel slow inactivation.

Bendahhou S, Cummins TR, Hahn AF, Langlois S, Waxman SG, Ptácek LJ. Bendahhou S, et al. J Clin Invest. 2000 Aug;106(3):431-8. doi: 10.1172/JCI9654. J Clin Invest. 2000. PMID: 10930446 Free PMC article.

8

Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome.

Plaster NM, Tawil R, Tristani-Firouzi M, Canún S, Bendahhou S, Tsunoda A, Donaldson MR, Iannaccone ST, Brunt E, Barohn R, Clark J, Deymeer F, George AL Jr, Fish FA, Hahn A, Nitu A, Ozdemir C, Serdaroglu P, Subramony SH, Wolfe G, Fu YH, Ptácek LJ. Plaster NM, et al. Among authors: bendahhou s. Cell. 2001 May 18;105(4):511-9. doi: 10.1016/s0092-8674(01)00342-7. Cell. 2001. PMID: 11371347 Free article.

9

Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome).

Tristani-Firouzi M, Jensen JL, Donaldson MR, Sansone V, Meola G, Hahn A, Bendahhou S, Kwiecinski H, Fidzianska A, Plaster N, Fu YH, Ptacek LJ, Tawil R. Tristani-Firouzi M, et al. Among authors: bendahhou s. J Clin Invest. 2002 Aug;110(3):381-8. doi: 10.1172/JCI15183. J Clin Invest. 2002. PMID: 12163457 Free PMC article.

10

Defective potassium channel Kir2.1 trafficking underlies Andersen-Tawil syndrome.

Bendahhou S, Donaldson MR, Plaster NM, Tristani-Firouzi M, Fu YH, Ptácek LJ. Bendahhou S, et al. J Biol Chem. 2003 Dec 19;278(51):51779-85. doi: 10.1074/jbc.M310278200. Epub 2003 Oct 1. J Biol Chem. 2003. PMID: 14522976 Free article.

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