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Items: 1 to 20 of 586

1.

Early-onset progressive ataxia associated with the first CACNA1A mutation identified within the I-II loop.

Cricchi F, Di Lorenzo C, Grieco GS, Rengo C, Cardinale A, Racaniello M, Santorelli FM, Nappi G, Pierelli F, Casali C.

J Neurol Sci. 2007 Mar 15;254(1-2):69-71. Epub 2007 Feb 12.

PMID:
17292920
2.

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
3.

Late-onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A.

Imbrici P, Eunson LH, Graves TD, Bhatia KP, Wadia NH, Kullmann DM, Hanna MG.

Neurology. 2005 Sep 27;65(6):944-6.

PMID:
16186543
4.

Late onset hereditary episodic ataxia.

Damak M, Riant F, Boukobza M, Tournier-Lasserve E, Bousser MG, Vahedi K.

J Neurol Neurosurg Psychiatry. 2009 May;80(5):566-8. doi: 10.1136/jnnp.2008.150615.

PMID:
19372292
5.

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
6.

Spinocerebellar ataxia type 6 with positional vertigo and acetazolamide responsive episodic ataxia.

Jen JC, Yue Q, Karrim J, Nelson SF, Baloh RW.

J Neurol Neurosurg Psychiatry. 1998 Oct;65(4):565-8.

7.

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.

8.

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
9.

Clinical spectrum of episodic ataxia type 2.

Jen J, Kim GW, Baloh RW.

Neurology. 2004 Jan 13;62(1):17-22.

PMID:
14718690
10.

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
11.

Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds.

Schöls L, Krüger R, Amoiridis G, Przuntek H, Epplen JT, Riess O.

J Neurol Neurosurg Psychiatry. 1998 Jan;64(1):67-73.

12.

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
13.

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
14.

Childhood epilepsy, familial hemiplegic migraine, cerebellar ataxia, and a new CACNA1A mutation.

Kors EE, Melberg A, Vanmolkot KR, Kumlien E, Haan J, Raininko R, Flink R, Ginjaar HB, Frants RR, Ferrari MD, van den Maagdenberg AM.

Neurology. 2004 Sep 28;63(6):1136-7. No abstract available.

PMID:
15452324
15.

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.

16.

Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia.

Spacey SD, Materek LA, Szczygielski BI, Bird TD.

Arch Neurol. 2005 Feb;62(2):314-6.

PMID:
15710862
17.

Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family.

Alonso I, Barros J, Tuna A, Coelho J, Sequeiros J, Silveira I, Coutinho P.

Arch Neurol. 2003 Apr;60(4):610-4.

PMID:
12707077
18.

Episodic ataxia type 2. Three novel truncating mutations and one novel missense mutation in the CACNA1A gene.

van den Maagdenberg AM, Kors EE, Brunt ER, van Paesschen W, Pascual J, Ravine D, Keeling S, Vanmolkot KR, Vermeulen FL, Terwindt GM, Haan J, Frants RR, Ferrari MD.

J Neurol. 2002 Nov;249(11):1515-9.

PMID:
12420090
19.

[Initial symptoms and mode of neurological progression in spinocerebellar ataxia type 6 (SCA6)].

Yabe I, Sasaki H, Yamashita I, Takei A, Fukazawa T, Hamada T, Tashiro K.

Rinsho Shinkeigaku. 1998 Jun;38(6):489-94. Japanese.

PMID:
9847664
20.

CACNA1A mutation in a EA-2 patient responsive to acetazolamide and valproic acid.

Scoggan KA, Friedman JH, Bulman DE.

Can J Neurol Sci. 2006 Feb;33(1):68-72.

PMID:
16583725
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