Enfermedad de McArdle (Glucogenosis tipo V): Fisiopatología y beneficios del ejercicio
- Centros de Excelencia de Investigación
- Proyectos de investigación y publicaciones
- Farmacogenética en cáncer de mama
- Marcadores genéticos y biológicos aplicados
- Nuevos métodos de diagnóstico precoz del cáncer oral
- Enfermedad de McArdle (Glucogenosis tipo V): Fisiopatología y beneficios del ejercicio
- Danza Movimiento Terapia (DMT): Beneficios en pacientes con discapacidad y en trastornos de la alimentación
- Calidad de la visión nocturna
- Caracterización de los ritmos hipocampales y su distorsión en epilepsia de lóbulo temporal
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- IX Jornadas Internacionales de Innovación Universitaria
Proyectos asociados
Bases moleculares y fisiológicas moduladoras de la expresión fenotípica en el déficit de miofosfoforilasa (enfermedad McArdle). Parte 3. Efectos del entrenamiento físico programado en la función muscular y la capacidad física de los pacientes. (Proyecto coordinado en red)/FIS/2005-2007.
Publicaciones asociadas
1: 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. Expression of glycogen phosphorylase isoforms in cultured muscle from patients with McArdle's disease carrying the p.R771PfsX33 PYGM mutation. PLoS One. 2010 Oct 5;5(10). pii: e13164. PubMed PMID: 20957198; PubMed Central PMCID: PMC2950139.
2: Rae DE, Noakes TD, San Juan AF, Pérez M, Nogales-Gadea G, Ruiz JR, Morán M, Martín MA, Andreu AL, Arenas J, Lucia A. Excessive skeletal muscle recruitment during strenuous exercise in McArdle patients. Eur J Appl Physiol. 2010 Nov;110(5):1047-55. Epub 2010 Aug 4. PubMed PMID: 20683610.
3: Garcia-Consuegra I, Rubio JC, Nogales-Gadea G, Bautista J, Jiménez S, Cabello A, Lucía A, Andreu AL, Arenas J, Martin MA. Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease. Hum Genet. 2009 Apr;125(3):343. PubMed PMID: 19320016.
4: Garcia-Consuegra I, Rubio JC, Nogales-Gadea G, Bautista J, Jiménez S, Cabello A, Lucía A, Andreu AL, Arenas J, Martin MA. Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease. Hum Genet. 2009 Apr;125(3):342. PubMed PMID: 19320015.
5: Garcia-Consuegra I, Rubio JC, Nogales-Gadea G, Bautista J, Jiménez S, Cabello A, Lucía A, Andreu AL, Arenas J, Martin MA. Novel human pathological mutations. Gene symbol: PYGM. Disease: McArdle disease. Hum Genet. 2009 Apr;125(3):342. PubMed PMID: 19320014.
6: García-Consuegra I, Rubio JC, Nogales-Gadea G, Bautista J, Jiménez S, Cabello A, Lucía A, Andreu AL, Arenas J, Martin MA. Novel mutations in patients with McArdle disease by analysis of skeletal muscle mRNA. J Med Genet. 2009 Mar;46(3):198-202. PubMed PMID: 19251976.
7: González-Freire M, Santiago C, Gómez-Gallego F, Pérez M, Foster C, Arenas J, Lucia A. Does the K153R variant of the myostatin gene influence the clinical presentation of women with McArdle disease? Neuromuscul Disord. 2009 Mar;19(3):220-2. Epub 2009 Feb 15. PubMed PMID: 19232494.
8: Lucia A, Nogales-Gadea G, Pérez M, Martín MA, Andreu AL, Arenas J; Medscape. McArdle disease: what do neurologists need to know? Nat Clin Pract Neurol. 2008 Oct;4(10):568-77. Review. PubMed PMID: 18833216.
9: Pérez M, Foster C, González-Freire M, Arenas J, Lucia A. One-year follow-up in a child with McArdle disease: exercise is medicine. Pediatr Neurol. 2008 Feb;38(2):133-6. PubMed PMID: 18206796.
10: Lucia A, Smith L, Naidoo M, González-Freire M, Pérez M, Rubio JC, Martín MA, Andreu AL, Arenas J. McArdle disease: another systemic low-inflammation disorder? Neurosci Lett. 2008 Jan 31;431(2):106-11. Epub 2007 Dec 4. PubMed PMID: 18162322.
11: Nogales-Gadea G, Rubio JC, Fernandez-Cadenas I, Garcia-Consuegra I, Lucia A, Cabello A, Garcia-Arumi E, Arenas J, Andreu AL, Martín MA. Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: the role of nonsense-mediated mRNA decay. Hum Mutat. 2008 Feb;29(2):277-83. PubMed PMID: 17994553.
12: Pérez M, Maté-Muñoz JL, Foster C, Rubio JC, Andreu AL, Martín MA, Arenas J, Lucia A. Exercise capacity in a child with McArdle disease. J Child Neurol. 2007 Jul;22(7):880-2. PubMed PMID: 17715283.
13: 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. AMPD1 genotypes and exercise capacity in McArdle patients. Int J Sports Med. 2008 Apr;29(4):331-5. Epub 2007 Aug 9. PubMed PMID: 17687759.
14: Rubio JC, Gómez-Gallego F, Santiago C, García-Consuegra I, Pérez M, Barriopedro MI, Andreu AL, Martín MA, Arenas J, Lucia A. Genotype modulators of clinical severity in McArdle disease. Neurosci Lett. 2007 Jul 18;422(3):217-22. Epub 2007 Jun 21. PubMed PMID: 17630210.
15: Maté-Muñoz JL, Moran M, Pérez M, Chamorro-Viña C, Gómez-Gallego F, Santiago C, Chicharro L, Foster C, Nogales-Gadea G, Rubio JC, Andreu AL, Martín MA, Arenas J, Lucia A. Favorable responses to acute and chronic exercise in McArdle patients. Clin J Sport Med. 2007 Jul;17(4):297-303. PubMed PMID: 17620784.
16: Lucia A, Gómez-Gallego F, Santiago C, Pérez M, Maté-Muñoz JL, Chamorro-Viña C, Nogales-Gadea G, Foster C, Rubio JC, Andreu AL, Martín MA, Arenas J. The 577X allele of the ACTN3 gene is associated with improved exercise capacity in women with McArdle's disease. Neuromuscul Disord. 2007 Aug;17(8):603-10. Epub 2007 Jun 8. PubMed PMID: 17560787.
17: Rubio JC, Garcia-Consuegra I, Nogales-Gadea G, Blazquez A, Cabello A, Lucia A, Andreu AL, Arenas J, Martin MA. A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients. Hum Mutat. 2007 Feb;28(2):203-4. PubMed PMID: 17221871.
18: Rubio JC, Lucia A, Fernández-Cadenas I, Cabello A, Blázquez A, Gámez J, Andreu AL, Martín MA, Arenas J. Novel mutation in the PYGM gene resulting in McArdle disease. Arch Neurol. 2006 Dec;63(12):1782-4. PubMed PMID: 17172620.
19: Pérez M, Moran M, Cardona C, Maté-Muñoz JL, Rubio JC, Andreu AL, Martin MA, Arenas J, Lucia A. Can patients with McArdle's disease run? Br J Sports Med. 2007 Jan;41(1):53-4. Epub 2006 Sep 25. PubMed PMID: 17000713; PubMed Central PMCID: PMC2465149.
20: Lucia A, Maté-Muñoz JL, Pérez M, Foster C, Gutiérrez-Rivas E, Arenas J. Double trouble (McArdle's disease and myasthenia gravis): how can exercise help? Muscle Nerve. 2007 Jan;35(1):125-8. PubMed PMID: 16967472.