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Items: 1 to 20 of 158

1.

A novel mutation in CACNA1A associated with hemiplegic migraine, cerebellar dysfunction and late-onset cognitive decline.

Freilinger T, Ackl N, Ebert A, Schmidt C, Rautenstrauss B, Dichgans M, Danek A.

J Neurol Sci. 2011 Jan 15;300(1-2):160-3. doi: 10.1016/j.jns.2010.09.032. Epub 2010 Oct 28.

PMID:
21035146
2.

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.

3.

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.

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.

Cerebellar ataxia, hemiplegic migraine, and related phenotypes due to a CACNA1A missense mutation: 12-year follow-up of a large Portuguese family.

Barros J, Damásio J, Tuna A, Alves I, Silveira I, Pereira-Monteiro J, Sequeiros J, Alonso I, Sousa A, Coutinho P.

JAMA Neurol. 2013 Feb;70(2):235-40. doi: 10.1001/jamaneurol.2013.591.

PMID:
23407676
6.

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
7.

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
8.

Genetic heterogeneity in Italian families with familial hemiplegic migraine.

Carrera P, Piatti M, Stenirri S, Grimaldi LM, Marchioni E, Curcio M, Righetti PG, Ferrari M, Gelfi C.

Neurology. 1999 Jul 13;53(1):26-33.

PMID:
10408532
9.

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
10.

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
11.

Wide clinical variability in a family with a CACNA1A T666m mutation: hemiplegic migraine, coma, and progressive ataxia.

Wada T, Kobayashi N, Takahashi Y, Aoki T, Watanabe T, Saitoh S.

Pediatr Neurol. 2002 Jan;26(1):47-50.

PMID:
11814735
12.

De novo mutations in ATP1A2 and CACNA1A are frequent in early-onset sporadic hemiplegic migraine.

Riant F, Ducros A, Ploton C, Barbance C, Depienne C, Tournier-Lasserve E.

Neurology. 2010 Sep 14;75(11):967-72. doi: 10.1212/WNL.0b013e3181f25e8f.

PMID:
20837964
13.

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
14.

Cognitive functions, emotional behavior, and quality of life in familial hemiplegic migraine.

Karner E, Delazer M, Benke T, Bösch S.

Cogn Behav Neurol. 2010 Jun;23(2):106-11. doi: 10.1097/WNN.0b013e3181c3a8a6.

PMID:
20535059
15.

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
16.

[Case of sporadic hemiplegic migraine with cerebellar ataxia].

Iwanaka Y, Okada K, Akamatsu N, Uozumi T, Adachi Y, Tsuji S.

Rinsho Shinkeigaku. 2009 May;49(5):267-70. Japanese.

PMID:
19594104
17.

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
18.

Amino acid changes in the amino terminus of the Na,K-adenosine triphosphatase alpha-2 subunit associated to familial and sporadic hemiplegic migraine.

Tonelli A, Gallanti A, Bersano A, Cardin V, Ballabio E, Airoldi G, Redaelli F, Candelise L, Bresolin N, Bassi MT.

Clin Genet. 2007 Dec;72(6):517-23. Epub 2007 Sep 18.

PMID:
17877748
19.

CACNA1A R1347Q: a frequent recurrent mutation in hemiplegic migraine.

Stam AH, Vanmolkot KR, Kremer HP, Gärtner J, Brown J, Leshinsky-Silver E, Gilad R, Kors EE, Frankhuizen WS, Ginjaar HB, Haan J, Frants RR, Ferrari MD, van den Maagdenberg AM, Terwindt GM.

Clin Genet. 2008 Nov;74(5):481-5. doi: 10.1111/j.1399-0004.2008.00996.x. Epub 2008 Apr 8.

PMID:
18400034
20.

[Familial and sporadic hemiplegic migraine].

Ducros A.

Rev Neurol (Paris). 2008 Mar;164(3):216-24. doi: 10.1016/j.neurol.2007.10.003. Epub 2008 Mar 11. Review. French.

PMID:
18405771

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