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Items: 14

1.

A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation.

Romaniello R, Zucca C, Tonelli A, Bonato S, Baschirotto C, Zanotta N, Epifanio R, Righini A, Bresolin N, Bassi MT, Borgatti R.

J Neurol Neurosurg Psychiatry. 2010 Aug;81(8):840-3. doi: 10.1136/jnnp.2008.163402.

PMID:
20682717
2.

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
3.

[Spinocerebellar ataxias in infancy: pathogenesis of potassium and calcium channels' diseases, clinical features and therapeutical approach].

Bozzola E, Savasta S, Peruzzi C, Bozzola M, Bona G.

Minerva Pediatr. 2007 Apr;59(2):149-56. Review. Italian.

PMID:
17404565
4.

Spinocerebellar ataxia type 6: channelopathy or glutamine repeat disorder?

Frontali M.

Brain Res Bull. 2001 Oct-Nov 1;56(3-4):227-31. Review.

PMID:
11719255
5.

R583Q CACNA1A variant in SHM1 and ataxia: case report and literature update.

Di Cristofori A, Fusi L, Gomitoni A, Grampa G, Bersano A; Lombardia GENS collaborators.

J Headache Pain. 2012 Jul;13(5):419-23. doi: 10.1007/s10194-012-0444-7. Epub 2012 Apr 19. Review.

6.

CaV2.1 channelopathies.

Pietrobon D.

Pflugers Arch. 2010 Jul;460(2):375-93. doi: 10.1007/s00424-010-0802-8. Epub 2010 Mar 4. Review.

PMID:
20204399
7.

Spinocerebellar ataxia type 6 and episodic ataxia type 2: differences and similarities between two allelic disorders.

Mantuano E, Veneziano L, Jodice C, Frontali M.

Cytogenet Genome Res. 2003;100(1-4):147-53. Review.

PMID:
14526175
8.

Early seizures and cerebral oedema after trivial head trauma associated with the CACNA1A S218L mutation.

Stam AH, Luijckx GJ, Poll-Thé BT, Ginjaar IB, Frants RR, Haan J, Ferrari MD, Terwindt GM, van den Maagdenberg AM.

J Neurol Neurosurg Psychiatry. 2009 Oct;80(10):1125-9. doi: 10.1136/jnnp.2009.177279. Epub 2009 Jun 10. Review.

PMID:
19520699
9.

Elicited repetitive daily blindness: a new phenotype associated with hemiplegic migraine and SCN1A mutations.

Vahedi K, Depienne C, Le Fort D, Riant F, Chaine P, Trouillard O, Gaudric A, Morris MA, Leguern E, Tournier-Lasserve E, Bousser MG.

Neurology. 2009 Mar 31;72(13):1178-83. doi: 10.1212/01.wnl.0000345393.53132.8c. Review.

PMID:
19332696
10.

Migraine, ataxia and epilepsy: a challenging spectrum of genetically determined calcium channelopathies. Dutch Migraine Genetics Research Group.

Terwindt GM, Ophoff RA, Haan J, Sandkuijl LA, Frants RR, Ferrari MD.

Eur J Hum Genet. 1998 Jul-Aug;6(4):297-307. Review.

11.

[Molecular physiopathology of the spinocerebellar ataxia type 6 (SCA6)].

Cervantes-Kardasch VH, García-Martínez E.

Rev Invest Clin. 2004 May-Jun;56(3):368-74. Review. Spanish.

PMID:
15612520
12.

Molecular mechanism of Spinocerebellar Ataxia type 6: glutamine repeat disorder, channelopathy and transcriptional dysregulation. The multifaceted aspects of a single mutation.

Giunti P, Mantuano E, Frontali M, Veneziano L.

Front Cell Neurosci. 2015 Feb 16;9:36. doi: 10.3389/fncel.2015.00036. eCollection 2015. Review.

13.

[From gene to disease; from CACNA1A to migraine].

Kors EE, Haan J, Frants RR, Ferrari MD.

Ned Tijdschr Geneeskd. 2001 Feb 10;145(6):266-7. Review. Dutch.

PMID:
11236374
14.

Episodic ataxia type 2: phenotype characteristics of a novel CACNA1A mutation and review of the literature.

Nachbauer W, Nocker M, Karner E, Stankovic I, Unterberger I, Eigentler A, Schneider R, Poewe W, Delazer M, Boesch S.

J Neurol. 2014 May;261(5):983-91. Review.

PMID:
24658662

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