García-Consuegra I - Search Results

1

A new phenotype of dysferlinopathy with congenital onset.

Paradas C, González-Quereda L, De Luna N, Gallardo E, García-Consuegra I, Gómez H, Cabello A, Illa I, Gallano P. Paradas C, et al. Neuromuscul Disord. 2009 Jan;19(1):21-5. doi: 10.1016/j.nmd.2008.09.015. Epub 2008 Dec 11. Neuromuscul Disord. 2009. PMID: 19084402

2

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

3

CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.

Luque J, Mendes I, Gómez B, Morte B, López de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F; CIBERER Network; Lapunzina P. Luque J, et al. Clin Genet. 2022 May;101(5-6):481-493. doi: 10.1111/cge.14113. Epub 2022 Feb 4. Clin Genet. 2022. PMID: 35060122 Free PMC article. Review.

4

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.

5

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

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 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.

8

Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry.

Lucia A, Ruiz JR, Santalla A, Nogales-Gadea G, Rubio JC, García-Consuegra I, Cabello A, Pérez M, Teijeira S, Vieitez I, Navarro C, Arenas J, Martin MA, Andreu AL. Lucia A, et al. J Neurol Neurosurg Psychiatry. 2012 Mar;83(3):322-8. doi: 10.1136/jnnp-2011-301593. Epub 2012 Jan 16. J Neurol Neurosurg Psychiatry. 2012. PMID: 22250184

9

Primary adenosine monophosphate (AMP) deaminase deficiency in a hypotonic infant.

Castro-Gago M, Gómez-Lado C, Pérez-Gay L, Eirís-Puñal J, Martínez EP, García-Consuegra I, Martín MA. Castro-Gago M, et al. J Child Neurol. 2011 Jun;26(6):734-7. doi: 10.1177/0883073810390367. Epub 2011 Feb 22. J Child Neurol. 2011. PMID: 21343608

10

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

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