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Results: 1 to 20 of 393

Similar articles for PubMed (Select 19486177)

1.

CACNA1A nonsense mutation is associated with basilar-type migraine and episodic ataxia type 2.

Robbins MS, Lipton RB, Laureta EC, Grosberg BM.

Headache. 2009 Jul;49(7):1042-6. doi: 10.1111/j.1526-4610.2009.01464.x. Epub 2009 May 27.

PMID:
19486177
2.

High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2.

Denier C, Ducros A, Vahedi K, Joutel A, Thierry P, Ritz A, Castelnovo G, Deonna T, Gérard P, Devoize JL, Gayou A, Perrouty B, Soisson T, Autret A, Warter JM, Vighetto A, Van Bogaert P, Alamowitch S, Roullet E, Tournier-Lasserve E.

Neurology. 1999 Jun 10;52(9):1816-21.

PMID:
10371528
3.

Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia.

Ducros A, Denier C, Joutel A, Vahedi K, Michel A, Darcel F, Madigand M, Guerouaou D, Tison F, Julien J, Hirsch E, Chedru F, Bisgård C, Lucotte G, Després P, Billard C, Barthez MA, Ponsot G, Bousser MG, Tournier-Lasserve E.

Am J Hum Genet. 1999 Jan;64(1):89-98.

4.

Mutation analysis of the CACNA1A calcium channel subunit gene in 27 patients with sporadic hemiplegic migraine.

Terwindt G, Kors E, Haan J, Vermeulen F, Van den Maagdenberg A, Frants R, Ferrari M.

Arch Neurol. 2002 Jun;59(6):1016-8. Review.

PMID:
12056940
5.

Missense CACNA1A mutation causing episodic ataxia type 2.

Denier C, Ducros A, Durr A, Eymard B, Chassande B, Tournier-Lasserve E.

Arch Neurol. 2001 Feb;58(2):292-5.

PMID:
11176968
6.

Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene.

Tonelli A, D'Angelo MG, Salati R, Villa L, Germinasi C, Frattini T, Meola G, Turconi AC, Bresolin N, Bassi MT.

J Neurol Sci. 2006 Feb 15;241(1-2):13-7. Epub 2005 Dec 2.

PMID:
16325861
7.

The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel.

Ducros A, Denier C, Joutel A, Cecillon M, Lescoat C, Vahedi K, Darcel F, Vicaut E, Bousser MG, Tournier-Lasserve E.

N Engl J Med. 2001 Jul 5;345(1):17-24.

8.

A novel nonsense mutation in CACNA1A causes episodic ataxia and hemiplegia.

Jen J, Yue Q, Nelson SF, Yu H, Litt M, Nutt J, Baloh RW.

Neurology. 1999 Jul 13;53(1):34-7.

PMID:
10408533
9.

A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia.

Battistini S, Stenirri S, Piatti M, Gelfi C, Righetti PG, Rocchi R, Giannini F, Battistini N, Guazzi GC, Ferrari M, Carrera P.

Neurology. 1999 Jul 13;53(1):38-43.

PMID:
10408534
10.

A family of episodic ataxia type 2: no evidence of genetic linkage to the CACNA1A gene.

Hirose H, Arayama T, Takita J, Igarashi T, Hayashi Y, Nagao Y.

Int J Mol Med. 2003 Feb;11(2):187-9.

PMID:
12525875
11.

CACNA1A gene de novo mutation causing hemiplegic migraine, coma, and cerebellar atrophy.

Vahedi K, Denier C, Ducros A, Bousson V, Levy C, Chabriat H, Haguenau M, Tournier-Lasserve E, Bousser MG.

Neurology. 2000 Oct 10;55(7):1040-2.

PMID:
11061267
12.

Novel CACNA1A mutation causes febrile episodic ataxia with interictal cerebellar deficits.

Subramony SH, Schott K, Raike RS, Callahan J, Langford LR, Christova PS, Anderson JH, Gomez CM.

Ann Neurol. 2003 Dec;54(6):725-31.

PMID:
14681882
13.

Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing.

Labrum RW, Rajakulendran S, Graves TD, Eunson LH, Bevan R, Sweeney MG, Hammans SR, Tubridy N, Britton T, Carr LJ, Ostergaard JR, Kennedy CR, Al-Memar A, Kullmann DM, Schorge S, Temple K, Davis MB, Hanna MG.

J Med Genet. 2009 Nov;46(11):786-91. doi: 10.1136/jmg.2009.067967. Epub 2009 Jul 7.

PMID:
19586927
14.

Stepwise developmental regression associated with novel CACNA1A mutation.

Guerin AA, Feigenbaum A, Donner EJ, Yoon G.

Pediatr Neurol. 2008 Nov;39(5):363-4. doi: 10.1016/j.pediatrneurol.2008.07.030.

PMID:
18940563
15.

Sporadic hemiplegic migraine and epilepsy associated with CACNA1A gene mutation.

Zangaladze A, Asadi-Pooya AA, Ashkenazi A, Sperling MR.

Epilepsy Behav. 2010 Feb;17(2):293-5. doi: 10.1016/j.yebeh.2009.12.017. Epub 2010 Jan 13.

PMID:
20071244
16.

Variable clinical expression of mutations in the P/Q-type calcium channel gene in familial hemiplegic migraine. Dutch Migraine Genetics Research Group.

Terwindt GM, Ophoff RA, Haan J, Vergouwe MN, van Eijk R, Frants RR, Ferrari MD.

Neurology. 1998 Apr;50(4):1105-10.

PMID:
9566402
17.

Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A.

García Segarra N, Gautschi I, Mittaz-Crettol L, Kallay Zetchi C, Al-Qusairi L, Van Bemmelen MX, Maeder P, Bonafé L, Schild L, Roulet-Perez E.

J Neurol Sci. 2014 Jul 15;342(1-2):69-78. doi: 10.1016/j.jns.2014.04.027. Epub 2014 Apr 27.

PMID:
24836863
18.

Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p.

Jodice C, Mantuano E, Veneziano L, Trettel F, Sabbadini G, Calandriello L, Francia A, Spadaro M, Pierelli F, Salvi F, Ophoff RA, Frants RR, Frontali M.

Hum Mol Genet. 1997 Oct;6(11):1973-8.

19.

Delayed cerebral edema and fatal coma after minor head trauma: role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine.

Kors EE, Terwindt GM, Vermeulen FL, Fitzsimons RB, Jardine PE, Heywood P, Love S, van den Maagdenberg AM, Haan J, Frants RR, Ferrari MD.

Ann Neurol. 2001 Jun;49(6):753-60.

PMID:
11409427
20.

Progressive cerebellar ataxia with variable episodic symptoms--phenotypic diversity of R1668W CACNA1A mutation.

Marti S, Baloh RW, Jen JC, Straumann D, Jung HH.

Eur Neurol. 2008;60(1):16-20. doi: 10.1159/000127974. Epub 2008 Apr 25.

PMID:
18437043
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