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Items: 1 to 50 of 178

1.

Glycogen Storage Disease Type V.

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

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2006 Apr 19 [updated 2019 Jun 20].

2.

Low survival rate and muscle fiber-dependent aging effects in the McArdle disease mouse model.

Real-Martinez A, Brull A, Huerta J, Tarrasó G, Lucia A, Martin MA, Arenas J, Andreu AL, Nogales-Gadea G, Vissing J, Krag TO, de Luna N, Pinós T.

Sci Rep. 2019 Mar 26;9(1):5116. doi: 10.1038/s41598-019-41414-8.

3.

Missense mutations have unexpected consequences: The McArdle disease paradigm.

García-Consuegra I, Asensio-Peña S, Ballester-Lopez A, Francisco-Velilla R, Pinos T, Pintos-Morell G, Coll-Cantí J, González-Quintana A, Andreu AL, Arenas J, Lucia A, Nogales-Gadea G, Martín MA.

Hum Mutat. 2018 Oct;39(10):1338-1343. doi: 10.1002/humu.23591. Epub 2018 Jul 26.

PMID:
30011114
4.

Muscle molecular adaptations to endurance exercise training are conditioned by glycogen availability: a proteomics-based analysis in the McArdle mouse model.

Fiuza-Luces C, Santos-Lozano A, Llavero F, Campo R, Nogales-Gadea G, Díez-Bermejo J, Baladrón C, González-Murillo Á, Arenas J, Martín MA, Andreu AL, Pinós T, Gálvez BG, López JA, Vázquez J, Zugaza JL, Lucia A.

J Physiol. 2018 Mar 15;596(6):1035-1061. doi: 10.1113/JP275292. Epub 2018 Feb 14.

5.

Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update.

Santalla A, Nogales-Gadea G, Encinar AB, Vieitez I, González-Quintana A, Serrano-Lorenzo P, Consuegra IG, Asensio S, Ballester-Lopez A, Pintos-Morell G, Coll-Cantí J, Pareja-Galeano H, Díez-Bermejo J, Pérez M, Andreu AL, Pinós T, Arenas J, Martín MA, Lucia A.

BMC Genomics. 2017 Nov 14;18(Suppl 8):819. doi: 10.1186/s12864-017-4188-2.

6.

211th ENMC International Workshop:: Development of diagnostic criteria and management strategies for McArdle Disease and related rare glycogenolytic disorders to improve standards of care. 17-19 April 2015, Naarden, The Netherlands.

Quinlivan R, Andreu AL, Marti R; Workshop Participants.

Neuromuscul Disord. 2017 Dec;27(12):1143-1151. doi: 10.1016/j.nmd.2017.09.002. Epub 2017 Sep 14. No abstract available.

PMID:
29079393
7.

Influence of Mitochondrial Genetics on the Mitochondrial Toxicity of Linezolid in Blood Cells and Skin Nerve Fibers.

Garrabou G, Soriano À, Pinós T, Casanova-Mollà J, Pacheu-Grau D, Morén C, García-Arumí E, Morales M, Ruiz-Pesini E, Catalán-Garcia M, Milisenda JC, Lozano E, Andreu AL, Montoya J, Mensa J, Cardellach F.

Antimicrob Agents Chemother. 2017 Aug 24;61(9). pii: e00542-17. doi: 10.1128/AAC.00542-17. Print 2017 Sep.

8.

Role of PARP activity in lung cancer-induced cachexia: Effects on muscle oxidative stress, proteolysis, anabolic markers, and phenotype.

Chacon-Cabrera A, Mateu-Jimenez M, Langohr K, Fermoselle C, García-Arumí E, Andreu AL, Yelamos J, Barreiro E.

J Cell Physiol. 2017 Dec;232(12):3744-3761. doi: 10.1002/jcp.25851. Epub 2017 Apr 27.

PMID:
28177129
9.

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. Epub 2016 Feb 25.

PMID:
26913921
10.

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. Epub 2016 Jun 8.

11.

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. eCollection 2016.

12.

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.

PMID:
27031745
13.

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. Epub 2016 Mar 30.

PMID:
27030740
14.

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. Epub 2016 May 4.

15.

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. Epub 2015 Nov 20.

PMID:
26530247
16.

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.

PMID:
26240973
17.

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. Epub 2015 Sep 24. No abstract available.

PMID:
26228546
18.

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. Epub 2015 Jun 3. Review.

PMID:
25914343
19.

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. Epub 2015 May 18.

20.

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. Epub 2015 Mar 11.

21.

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. Epub 2014 Sep 6.

22.

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. Epub 2014 Aug 21.

PMID:
25240406
23.

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. Epub 2014 Aug 22.

PMID:
25149473
24.

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. eCollection 2014.

25.

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. Epub 2013 Oct 28.

26.

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. Epub 2013 Oct 25.

27.

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.

PMID:
23884809
28.

The use of ambulatory strategies for the diagnosis and treatment of obstructive sleep apnea in adults.

Chiner E, Andreu AL, Sancho-Chust JN, Sánchez-de-la-Torre A, Barbé F.

Expert Rev Respir Med. 2013 Jun;7(3):259-73. doi: 10.1586/ers.13.19. Review.

PMID:
23734648
29.

Mitochondrial dysfunction and therapeutic approaches in respiratory and limb muscles of cancer cachectic mice.

Fermoselle C, García-Arumí E, Puig-Vilanova E, Andreu AL, Urtreger AJ, de Kier Joffé ED, Tejedor A, Puente-Maestu L, Barreiro E.

Exp Physiol. 2013 Sep;98(9):1349-65. doi: 10.1113/expphysiol.2013.072496. Epub 2013 Apr 26.

30.

Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene.

Melià MJ, Kubota A, Ortolano S, Vílchez JJ, Gámez J, Tanji K, Bonilla E, Palenzuela L, Fernández-Cadenas I, Pristoupilová A, García-Arumí E, Andreu AL, Navarro C, Hirano M, Martí R.

Brain. 2013 May;136(Pt 5):1508-17. doi: 10.1093/brain/awt074. Epub 2013 Mar 29.

31.

Identification of the novel mutation m.5658T>C in the mitochondrial tRNA(Asn) gene in a patient with myopathy, bilateral ptosis and ophthalmoparesis.

Pinós T, Melià MJ, Ortiz N, Martinez-Vea A, Raventós-Estellé A, Gallardo E, Hernández-Losa J, Cámara Y, Andreu AL, García-Arumí E.

Neuromuscul Disord. 2013 Apr;23(4):330-6. doi: 10.1016/j.nmd.2013.01.001. Epub 2013 Jan 31.

PMID:
23375258
32.

Association of the K153R polymorphism in the myostatin gene and extreme longevity.

Garatachea N, Pinós T, Cámara Y, Rodríguez-Romo G, Emanuele E, Ricevuti G, Venturini L, Santos-Lozano A, Santiago-Dorrego C, Fiuza-Luces C, Yvert T, Andreu AL, Lucia A.

Age (Dordr). 2013 Dec;35(6):2445-54. doi: 10.1007/s11357-013-9513-3. Epub 2013 Jan 25.

33.

Neuromuscular disorders of glycogen metabolism.

Gazzerro E, Andreu AL, Bruno C.

Curr Neurol Neurosci Rep. 2013 Mar;13(3):333. doi: 10.1007/s11910-012-0333-0. Review.

PMID:
23335027
34.

Oxidative stress modulates mitochondrial failure and cyclophilin D function in X-linked adrenoleukodystrophy.

López-Erauskin J, Galino J, Bianchi P, Fourcade S, Andreu AL, Ferrer I, Muñoz-Pinedo C, Pujol A.

Brain. 2012 Dec;135(Pt 12):3584-98. doi: 10.1093/brain/aws292.

35.

Functional outcome of a novel SLC29A3 mutation identified in a patient with H syndrome.

Huber-Ruano I, Errasti-Murugarren E, Godoy V, Vera Á, Andreu AL, Garcia-Arumi E, Martí R, Pastor-Anglada M.

Biochem Biophys Res Commun. 2012 Nov 30;428(4):532-7. doi: 10.1016/j.bbrc.2012.09.143. Epub 2012 Oct 8.

PMID:
23058913
36.

The 'McArdle paradox': exercise is a good advice for the exercise intolerant.

Lucia A, Quinlivan R, Wakelin A, Martín MA, Andreu AL.

Br J Sports Med. 2013 Aug;47(12):728-9. doi: 10.1136/bjsports-2012-091130. Epub 2012 Jun 29. No abstract available.

PMID:
22753862
37.

Knock-in mice for the R50X mutation in the PYGM gene present with McArdle disease.

Nogales-Gadea G, Pinós T, Lucia A, Arenas J, Camara Y, Brull A, de Luna N, Martín MA, Garcia-Arumí E, Martí R, Andreu AL.

Brain. 2012 Jul;135(Pt 7):2048-57. doi: 10.1093/brain/aws141. Epub 2012 Jun 21.

PMID:
22730558
38.

The Eutherian Armcx genes regulate mitochondrial trafficking in neurons and interact with Miro and Trak2.

López-Doménech G, Serrat R, Mirra S, D'Aniello S, Somorjai I, Abad A, Vitureira N, García-Arumí E, Alonso MT, Rodriguez-Prados M, Burgaya F, Andreu AL, García-Sancho J, Trullas R, Garcia-Fernàndez J, Soriano E.

Nat Commun. 2012 May 8;3:814. doi: 10.1038/ncomms1829.

39.

A transcriptomic approach to search for novel phenotypic regulators in McArdle disease.

Nogales-Gadea G, Consuegra-García I, Rubio JC, Arenas J, Cuadros M, Camara Y, Torres-Torronteras J, Fiuza-Luces C, Lucia A, Martín MA, García-Arumí E, Andreu AL.

PLoS One. 2012;7(2):e31718. doi: 10.1371/journal.pone.0031718. Epub 2012 Feb 9.

40.

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.

J Neurol Neurosurg Psychiatry. 2012 Mar;83(3):322-8. doi: 10.1136/jnnp-2011-301593. Epub 2012 Jan 16.

PMID:
22250184
41.

Are mitochondrial haplogroups associated with elite athletic status? A study on a Spanish cohort.

Nogales-Gadea G, Pinós T, Ruiz JR, Marzo PF, Fiuza-Luces C, López-Gallardo E, Ruiz-Pesini E, Martín MA, Arenas J, Morán M, Andreu AL, Lucia A.

Mitochondrion. 2011 Nov;11(6):905-8. doi: 10.1016/j.mito.2011.08.002. Epub 2011 Aug 11.

PMID:
21856449
42.

'Progress' renders detrimental an ancient mitochondrial DNA genetic variant.

Pacheu-Grau D, Gómez-Durán A, López-Gallardo E, Pinós T, Andreu AL, López-Pérez MJ, Montoya J, Ruiz-Pesini E.

Hum Mol Genet. 2011 Nov 1;20(21):4224-31. doi: 10.1093/hmg/ddr350. Epub 2011 Aug 9.

PMID:
21828074
43.

Effect of an ambulatory diagnostic and treatment programme in patients with sleep apnoea.

Andreu AL, Chiner E, Sancho-Chust JN, Pastor E, Llombart M, Gomez-Merino E, Senent C, Barbé F.

Eur Respir J. 2012 Feb;39(2):305-12. doi: 10.1183/09031936.00013311. Epub 2011 Jun 30.

44.

Chronic psychosocial stress induces reversible mitochondrial damage and corticotropin-releasing factor receptor type-1 upregulation in the rat intestine and IBS-like gut dysfunction.

Vicario M, Alonso C, Guilarte M, Serra J, Martínez C, González-Castro AM, Lobo B, Antolín M, Andreu AL, García-Arumí E, Casellas M, Saperas E, Malagelada JR, Azpiroz F, Santos J.

Psychoneuroendocrinology. 2012 Jan;37(1):65-77. doi: 10.1016/j.psyneuen.2011.05.005. Epub 2011 Jun 8.

PMID:
21641728
45.

Limited dCTP availability accounts for mitochondrial DNA depletion in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).

González-Vioque E, Torres-Torronteras J, Andreu AL, Martí R.

PLoS Genet. 2011 Mar;7(3):e1002035. doi: 10.1371/journal.pgen.1002035. Epub 2011 Mar 31.

46.

Oxidative damage compromises energy metabolism in the axonal degeneration mouse model of X-adrenoleukodystrophy.

Galino J, Ruiz M, Fourcade S, Schlüter A, López-Erauskin J, Guilera C, Jove M, Naudi A, García-Arumí E, Andreu AL, Starkov AA, Pamplona R, Ferrer I, Portero-Otin M, Pujol A.

Antioxid Redox Signal. 2011 Oct 15;15(8):2095-107. doi: 10.1089/ars.2010.3877. Epub 2011 Jun 8.

47.

Hematopoietic gene therapy restores thymidine phosphorylase activity in a cell culture and a murine model of MNGIE.

Torres-Torronteras J, Gómez A, Eixarch H, Palenzuela L, Pizzorno G, Hirano M, Andreu AL, Barquinero J, Martí R.

Gene Ther. 2011 Aug;18(8):795-806. doi: 10.1038/gt.2011.24. Epub 2011 Mar 31.

PMID:
21451581
48.

A novel nonstop mutation in TYMP does not induce nonstop mRNA decay in a MNGIE patient with severe neuropathy.

Torres-Torronteras J, Rodriguez-Palmero A, Pinós T, Accarino A, Andreu AL, Pintos-Morell G, Martíí R.

Hum Mutat. 2011 Apr;32(4):E2061-8. doi: 10.1002/humu.21447. Epub 2011 Jan 18.

PMID:
21412940
49.

Quality assessment of human mitochondrial DNA quantification: MITONAUTS, an international multicentre survey.

Côté HC, Gerschenson M, Walker UA, Miro O, Garrabou G, Hammond E, Villarroya J, Giralt M, Villarroya F, Cinque P, Garcia-Arumi E, Andreu AL, Pinti M, Cossarizza A.

Mitochondrion. 2011 May;11(3):520-7. doi: 10.1016/j.mito.2011.01.011. Epub 2011 Feb 22.

50.

Are mitochondrial haplogroups associated with extreme longevity? A study on a Spanish cohort.

Pinós T, Nogales-Gadea G, Ruiz JR, Rodríguez-Romo G, Santiago-Dorrego C, Fiuza-Luces C, Gómez-Gallego F, Cano-Nieto A, Garatachea N, Morán M, Angel Martín M, Arenas J, Andreu AL, Lucia A.

Age (Dordr). 2012 Feb;34(1):227-33. doi: 10.1007/s11357-011-9209-5. Epub 2011 Jan 28.

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