Cormand B - Search Results

1

A mutation in the first intracellular loop of CACNA1A prevents P/Q channel modulation by SNARE proteins and lowers exocytosis.

Serra SA, Cuenca-León E, Llobet A, Rubio-Moscardo F, Plata C, Carreño O, Fernàndez-Castillo N, Corominas R, Valverde MA, Macaya A, Cormand B, Fernández-Fernández JM. Serra SA, et al. Among authors: cormand b. Proc Natl Acad Sci U S A. 2010 Jan 26;107(4):1672-7. doi: 10.1073/pnas.0908359107. Epub 2010 Jan 8. Proc Natl Acad Sci U S A. 2010. PMID: 20080591 Free PMC article.

2

Paroxysmal kinesigenic dyskinesia and generalized seizures: clinical and genetic analysis in a Spanish pedigree.

Cuenca-Leon E, Cormand B, Thomson T, Macaya A. Cuenca-Leon E, et al. Among authors: cormand b. Neuropediatrics. 2002 Dec;33(6):288-93. doi: 10.1055/s-2002-37079. Neuropediatrics. 2002. PMID: 12571782

3

Molybdenum cofactor deficiency presenting as neonatal hyperekplexia: a clinical, biochemical and genetic study.

Macaya A, Brunso L, Fernández-Castillo N, Arranz JA, Ginjaar HB, Cuenca-León E, Corominas R, Roig M, Cormand B. Macaya A, et al. Among authors: cormand b. Neuropediatrics. 2005 Dec;36(6):389-94. doi: 10.1055/s-2005-872877. Neuropediatrics. 2005. PMID: 16429380

4

Genetic analysis of 27 Spanish patients with hemiplegic migraine, basilar-type migraine and childhood periodic syndromes.

Cuenca-León E, Corominas R, Fernàndez-Castillo N, Volpini V, Del Toro M, Roig M, Macaya A, Cormand B. Cuenca-León E, et al. Among authors: cormand b. Cephalalgia. 2008 Oct;28(10):1039-47. doi: 10.1111/j.1468-2982.2008.01645.x. Epub 2008 Jul 17. Cephalalgia. 2008. PMID: 18644040

5

[Hyperkalemic periodic paralysis: a Spanish family with the p.Thr704Met mutation in the SCN4A gene].

Narberhaus B, Cormand B, Cuenca-León E, Ribasés M, Monells J. Narberhaus B, et al. Among authors: cormand b. Neurologia. 2008 Sep;23(7):427-35. Neurologia. 2008. PMID: 18726720 Spanish.

6

Familial hemiplegic migraine: linkage to chromosome 14q32 in a Spanish kindred.

Cuenca-León E, Corominas R, Montfort M, Artigas J, Roig M, Bayés M, Cormand B, Macaya A. Cuenca-León E, et al. Among authors: cormand b. Neurogenetics. 2009 Jul;10(3):191-8. doi: 10.1007/s10048-008-0169-6. Epub 2009 Jan 20. Neurogenetics. 2009. PMID: 19153782

7

Lack of association of hormone receptor polymorphisms with migraine.

Corominas R, Ribasés M, Cuenca-León E, Cormand B, Macaya A. Corominas R, et al. Among authors: cormand b. Eur J Neurol. 2009 Mar;16(3):413-5. doi: 10.1111/j.1468-1331.2008.02499.x. Eur J Neurol. 2009. PMID: 19175383

8

The hemiplegic migraine-associated Y1245C mutation in CACNA1A results in a gain of channel function due to its effect on the voltage sensor and G-protein-mediated inhibition.

Serra SA, Fernàndez-Castillo N, Macaya A, Cormand B, Valverde MA, Fernández-Fernández JM. Serra SA, et al. Among authors: cormand b. Pflugers Arch. 2009 Jul;458(3):489-502. doi: 10.1007/s00424-009-0637-3. Epub 2009 Feb 3. Pflugers Arch. 2009. PMID: 19189122

9

Late-onset episodic ataxia type 2 associated with a novel loss-of-function mutation in the CACNA1A gene.

Cuenca-León E, Banchs I, Serra SA, Latorre P, Fernàndez-Castillo N, Corominas R, Valverde MA, Volpini V, Fernández-Fernández JM, Macaya A, Cormand B. Cuenca-León E, et al. Among authors: cormand b. J Neurol Sci. 2009 May 15;280(1-2):10-4. doi: 10.1016/j.jns.2009.01.005. Epub 2009 Feb 20. J Neurol Sci. 2009. PMID: 19232643

10

Contribution of syntaxin 1A to the genetic susceptibility to migraine: a case-control association study in the Spanish population.

Corominas R, Ribasés M, Cuenca-León E, Narberhaus B, Serra SA, del Toro M, Roig M, Fernández-Fernández JM, Macaya A, Cormand B. Corominas R, et al. Among authors: cormand b. Neurosci Lett. 2009 May 15;455(2):105-9. doi: 10.1016/j.neulet.2009.03.011. Epub 2009 Mar 6. Neurosci Lett. 2009. PMID: 19368856

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