García-Consuegra I - Search Results

1

A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy Leads to an Alternative Transcript Expression in the X-Linked Complex I NDUFB11 Gene.

Amate-García G, Ballesta-Martínez MJ, Serrano-Lorenzo P, Garrido-Moraga R, González-Quintana A, Blázquez A, Rubio JC, García-Consuegra I, Arenas J, Ugalde C, Morán M, Guillén-Navarro E, Martín MA. Amate-García G, et al. Among authors: garcia consuegra i. Int J Mol Sci. 2023 Jan 16;24(2):1743. doi: 10.3390/ijms24021743. Int J Mol Sci. 2023. PMID: 36675256 Free PMC article.

2

A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients.

Rubio JC, Garcia-Consuegra I, Nogales-Gadea G, Blazquez A, Cabello A, Lucia A, Andreu AL, Arenas J, Martin MA. Rubio JC, et al. Hum Mutat. 2007 Feb;28(2):203-4. doi: 10.1002/humu.9474. Hum Mutat. 2007. PMID: 17221871

3

The I allele of the ACE gene is associated with improved exercise capacity in women with McArdle disease.

Gómez-Gallego F, Santiago C, Morán M, Pérez M, Maté-Muñoz JL, del Valle MF, Rubio JC, Garcia-Consuegra I, Foster C, Andreu IA, Martín MA, Arenas J, Lucia A. Gómez-Gallego F, et al. Br J Sports Med. 2008 Feb;42(2):134-40. doi: 10.1136/bjsm.2007.038992. Epub 2007 Jul 6. Br J Sports Med. 2008. PMID: 17616548

4

Genotype modulators of clinical severity in McArdle disease.

Rubio JC, Gómez-Gallego F, Santiago C, García-Consuegra I, Pérez M, Barriopedro MI, Andreu AL, Martín MA, Arenas J, Lucia A. Rubio JC, et al. Neurosci Lett. 2007 Jul 18;422(3):217-22. doi: 10.1016/j.neulet.2007.06.025. Epub 2007 Jun 21. Neurosci Lett. 2007. PMID: 17630210

5

AMPD1 genotypes and exercise capacity in McArdle patients.

Rubio JC, Pérez M, Maté-Muñoz JL, García-Consuegra I, Chamorro-Viña C, Fernández del Valle M, Andreu AL, Martín MA, Arenas J, Lucia A. Rubio JC, et al. Int J Sports Med. 2008 Apr;29(4):331-5. doi: 10.1055/s-2007-965358. Epub 2007 Aug 9. Int J Sports Med. 2008. PMID: 17687759

6

Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: the role of nonsense-mediated mRNA decay.

Nogales-Gadea G, Rubio JC, Fernandez-Cadenas I, Garcia-Consuegra I, Lucia A, Cabello A, Garcia-Arumi E, Arenas J, Andreu AL, Martín MA. Nogales-Gadea G, et al. Hum Mutat. 2008 Feb;29(2):277-83. doi: 10.1002/humu.20649. Hum Mutat. 2008. PMID: 17994553

7

Novel mutations in patients with McArdle disease by analysis of skeletal muscle mRNA.

García-Consuegra I, Rubio JC, Nogales-Gadea G, Bautista J, Jiménez S, Cabello A, Lucía A, Andreu AL, Arenas J, Martin MA. García-Consuegra I, et al. J Med Genet. 2009 Mar;46(3):198-202. doi: 10.1136/jmg.2008.059469. J Med Genet. 2009. PMID: 19251976

8

Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease.

Garcia-Consuegra I, Rubio JC, Nogales-Gadea G, Bautista J, Jiménez S, Cabello A, Lucía A, Andreu AL, Arenas J, Martin MA. Garcia-Consuegra I, et al. Hum Genet. 2009 Apr;125(3):342. Hum Genet. 2009. PMID: 19320015 No abstract available.

9

Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease.

Garcia-Consuegra I, Rubio JC, Nogales-Gadea G, Bautista J, Jiménez S, Cabello A, Lucía A, Andreu AL, Arenas J, Martin MA. Garcia-Consuegra I, et al. Hum Genet. 2009 Apr;125(3):343. Hum Genet. 2009. PMID: 19320016 No abstract available.

10

Expression of glycogen phosphorylase isoforms in cultured muscle from patients with McArdle's disease carrying the p.R771PfsX33 PYGM mutation.

Nogales-Gadea G, Mormeneo E, García-Consuegra I, Rubio JC, Orozco A, Arenas J, Martín MA, Lucia A, Gómez-Foix AM, Martí R, Andreu AL. Nogales-Gadea G, et al. PLoS One. 2010 Oct 5;5(10):e13164. doi: 10.1371/journal.pone.0013164. PLoS One. 2010. PMID: 20957198 Free PMC article.

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