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Items: 1 to 20 of 171


Taking advantage of an old concept, "illegitimate transcription", for a proposed novel method of genetic diagnosis of McArdle disease.

Garcia-Consuegra I, Blázquez A, Rubio JC, Arenas J, Ballester-Lopez A, González-Quintana A, Andreu AL, Pinós T, Coll-Cantí J, Lucia A, Nogales-Gadea G, Martín MA.

Genet Med. 2016 Nov;18(11):1128-1135. doi: 10.1038/gim.2015.219.


Differential glucose metabolism in mice and humans affected by McArdle disease.

Krag TO, Pinós T, Nielsen TL, Duran J, García-Rocha M, Andreu AL, Vissing J.

Am J Physiol Regul Integr Comp Physiol. 2016 Aug 1;311(2):R307-14. doi: 10.1152/ajpregu.00489.2015.


Association between Obstructive Sleep Apnea and Community-Acquired Pneumonia.

Chiner E, Llombart M, Valls J, Pastor E, Sancho-Chust JN, Andreu AL, Sánchez-de-la-Torre M, Barbé F.

PLoS One. 2016 Apr 6;11(4):e0152749. doi: 10.1371/journal.pone.0152749.


Muscle Signaling in Exercise Intolerance: Insights from the McArdle Mouse Model.

Fiuza-Luces C, Nogales-Gadea G, García-Consuegra I, Pareja-Galeano H, Rufián-Vázquez L, Pérez LM, Andreu AL, Arenas J, Martín MA, Pinós T, Lucia A, Morán M.

Med Sci Sports Exerc. 2016 Aug;48(8):1448-58. doi: 10.1249/MSS.0000000000000931.


Differential Muscle Involvement in Mice and Humans Affected by McArdle Disease.

Krag TO, Pinós T, Nielsen TL, Brull A, Andreu AL, Vissing J.

J Neuropathol Exp Neurol. 2016 May;75(5):441-54. doi: 10.1093/jnen/nlw018.


Long-Term Restoration of Thymidine Phosphorylase Function and Nucleoside Homeostasis Using Hematopoietic Gene Therapy in a Murine Model of Mitochondrial Neurogastrointestinal Encephalomyopathy.

Torres-Torronteras J, Cabrera-Pérez R, Barba I, Costa C, de Luna N, Andreu AL, Barquinero J, Hirano M, Cámara Y, Martí R.

Hum Gene Ther. 2016 Sep;27(9):656-67. doi: 10.1089/hum.2015.160.


Therapeutic Approaches in Mitochondrial Dysfunction, Proteolysis, and Structural Alterations of Diaphragm and Gastrocnemius in Rats With Chronic Heart Failure.

Barreiro E, Puig-Vilanova E, Marin-Corral J, Chacón-Cabrera A, Salazar-Degracia A, Mateu X, Puente-Maestu L, García-Arumí E, Andreu AL, Molina L.

J Cell Physiol. 2016 Jul;231(7):1495-513. doi: 10.1002/jcp.25241.


Next-generation sequencing to estimate the prevalence of a great unknown: McArdle disease.

Nogales-Gadea G, Pinós T, Andreu AL, Martín MA, Arenas J, Lucia A.

Genet Med. 2015 Aug;17(8):679-80. doi: 10.1038/gim.2015.76. No abstract available.


Minimal symptoms in McArdle disease: A real PYGM genotype effect?

Pinós T, Lucia A, Arenas J, Brull A, Andreu AL, Martin MA, Nogales-Gadea G.

Muscle Nerve. 2015 Dec;52(6):1136-7. doi: 10.1002/mus.24789. No abstract available.


McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene.

Nogales-Gadea G, Brull A, Santalla A, Andreu AL, Arenas J, Martín MA, Lucia A, de Luna N, Pinós T.

Hum Mutat. 2015 Jul;36(7):669-78. doi: 10.1002/humu.22806. Review.


Phenotype consequences of myophosphorylase dysfunction: insights from the McArdle mouse model.

Brull A, de Luna N, Blanco-Grau A, Lucia A, Martin MA, Arenas J, Martí R, Andreu AL, Pinós T.

J Physiol. 2015 Jun 15;593(12):2693-706. doi: 10.1113/JP270085.


Sodium valproate increases the brain isoform of glycogen phosphorylase: looking for a compensation mechanism in McArdle disease using a mouse primary skeletal-muscle culture in vitro.

de Luna N, Brull A, Guiu JM, Lucia A, Martin MA, Arenas J, Martí R, Andreu AL, Pinós T.

Dis Model Mech. 2015 May;8(5):467-72. doi: 10.1242/dmm.020230.


Factors associated with depression and severe depression in patients with COPD.

Miravitlles M, Molina J, Quintano JA, Campuzano A, Pérez J, Roncero C; DEPREPOC Study Investigators..

Respir Med. 2014 Nov;108(11):1615-25. doi: 10.1016/j.rmed.2014.08.010.


PYGM expression analysis in white blood cells: a complementary tool for diagnosing McArdle disease?

de Luna N, Brull A, Lucia A, Santalla A, Garatachea N, Martí R, Andreu AL, Pinós T.

Neuromuscul Disord. 2014 Dec;24(12):1079-86. doi: 10.1016/j.nmd.2014.08.002.


The ROS-sensitive microRNA-9/9* controls the expression of mitochondrial tRNA-modifying enzymes and is involved in the molecular mechanism of MELAS syndrome.

Meseguer S, Martínez-Zamora A, García-Arumí E, Andreu AL, Armengod ME.

Hum Mol Genet. 2015 Jan 1;24(1):167-84. doi: 10.1093/hmg/ddu427.


Glycogen Storage Disease Type V.

Martín MA, Lucía A, Arenas J, Andreu AL.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2006 Apr 19 [updated 2014 Jun 26].


Mitochondrial DAMPs induce endotoxin tolerance in human monocytes: an observation in patients with myocardial infarction.

Fernández-Ruiz I, Arnalich F, Cubillos-Zapata C, Hernández-Jiménez E, Moreno-González R, Toledano V, Fernández-Velasco M, Vallejo-Cremades MT, Esteban-Burgos L, de Diego RP, Llamas-Matias MA, García-Arumi E, Martí R, Boscá L, Andreu AL, López-Sendón JL, López-Collazo E.

PLoS One. 2014 May 5;9(5):e95073. doi: 10.1371/journal.pone.0095073.


The rs1333049 polymorphism on locus 9p21.3 and extreme longevity in Spanish and Japanese cohorts.

Pinós T, Fuku N, Cámara Y, Arai Y, Abe Y, Rodríguez-Romo G, Garatachea N, Santos-Lozano A, Miro-Casas E, Ruiz-Meana M, Otaegui I, Murakami H, Miyachi M, Garcia-Dorado D, Hinohara K, Andreu AL, Kimura A, Hirose N, Lucia A.

Age (Dordr). 2014 Apr;36(2):933-43. doi: 10.1007/s11357-013-9593-0.


Identification and biochemical characterization of the novel mutation m.8839G>C in the mitochondrial ATP6 gene associated with NARP syndrome.

Blanco-Grau A, Bonaventura-Ibars I, Coll-Cantí J, Melià MJ, Martinez R, Martínez-Gallo M, Andreu AL, Pinós T, García-Arumí E.

Genes Brain Behav. 2013 Nov;12(8):812-20. doi: 10.1111/gbb.12089.


Accumulation of mitochondrial DNA deletions within dopaminergic neurons triggers neuroprotective mechanisms.

Perier C, Bender A, García-Arumí E, Melià MJ, Bové J, Laub C, Klopstock T, Elstner M, Mounsey RB, Teismann P, Prolla T, Andreu AL, Vila M.

Brain. 2013 Aug;136(Pt 8):2369-78. doi: 10.1093/brain/awt196.

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