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Items: 1 to 50 of 79

1.

Diet Quality and High-Sensitivity C-Reactive Protein in Patients With Systemic Lupus Erythematosus.

Pocovi-Gerardino G, Correa-Rodríguez M, Rubio JC, Fernández RR, Ortego-Centeno N, Rueda-Medina B.

Biol Res Nurs. 2019 Jan;21(1):107-113. doi: 10.1177/1099800418803176. Epub 2018 Oct 3.

PMID:
30282476
2.

Investigation on the Effect of Drill Geometry and Pilot Holes on Thrust Force and Burr Height When Drilling an Aluminium/PE Sandwich Material.

Rezende BA, Silveira ML, Vieira LMG, Abrão AM, Faria PE, Rubio JCC.

Materials (Basel). 2016 Sep 13;9(9). pii: E774. doi: 10.3390/ma9090774.

3.

Muscle fiber type proportion and size is not altered in mcardle disease.

Henning F, Cunninghame CA, Martín MA, Rubio JC, Arenas J, Lucia A, HernáNdez-Laín A, Kohn TA.

Muscle Nerve. 2017 Jun;55(6):916-918. doi: 10.1002/mus.25472. Epub 2016 Dec 16.

PMID:
27859426
4.

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
5.

Fracture bone healing and biodegradation of AZ31 implant in rats.

Iglesias C, Bodelón OG, Montoya R, Clemente C, Garcia-Alonso MC, Rubio JC, Escudero ML.

Biomed Mater. 2015 Apr 17;10(2):025008. doi: 10.1088/1748-6041/10/2/025008.

PMID:
25886380
6.

Event detection by feature unpredictability in phase-contrast videos of cell cultures.

Kandemir M, Rubio JC, Schmidt U, Wojek C, Welbl J, Ommer B, Hamprecht FA.

Med Image Comput Comput Assist Interv. 2014;17(Pt 2):154-61.

PMID:
25485374
7.

McArdle disease does not affect skeletal muscle fibre type profiles in humans.

Kohn TA, Noakes TD, Rae DE, Rubio JC, Santalla A, Nogales-Gadea G, Pinós T, Martín MA, Arenas J, Lucia A.

Biol Open. 2014 Nov 28;3(12):1224-7. doi: 10.1242/bio.20149548.

8.

Neuronal repair. Asynchronous therapy restores motor control by rewiring of the rat corticospinal tract after stroke.

Wahl AS, Omlor W, Rubio JC, Chen JL, Zheng H, Schröter A, Gullo M, Weinmann O, Kobayashi K, Helmchen F, Ommer B, Schwab ME.

Science. 2014 Jun 13;344(6189):1250-5. doi: 10.1126/science.1253050.

9.

MPV17 Mutations Causing Adult-Onset Multisystemic Disorder With Multiple Mitochondrial DNA Deletions.

Garone C, Rubio JC, Calvo SE, Naini A, Tanji K, Dimauro S, Mootha VK, Hirano M.

Arch Neurol. 2012 Dec;69(12):1648-51. doi: 10.1001/archneurol.2012.405.

10.

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.

11.

Polymorphisms influencing muscle phenotypes in North-African and Spanish populations.

Fernández-Santander A, Valveny N, Harich N, Kandil M, Luna F, Martín MÁ, Rubio JC, Lucia A, Gaibar M.

Ann Hum Biol. 2012 Mar;39(2):166-9. doi: 10.3109/03014460.2012.657243.

PMID:
22324844
12.

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
13.

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.

PLoS One. 2010 Oct 5;5(10). pii: e13164. doi: 10.1371/journal.pone.0013164.

14.

Single nucleotide change in the cannabinoid receptor-1 (CNR1) gene in colorectal cancer outcome.

Bedoya F, Rubio JC, Morales-Gutierrez C, Abad-Barahona A, Lora Pablos D, Meneu JC, Moreno-Gonzalez E, Enriquez de Salamanca R, Vegh I.

Oncology. 2009;76(6):435-41. doi: 10.1159/000217263. Epub 2009 May 5.

PMID:
19420965
15.

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.

Hum Genet. 2009 Apr;125(3):343. No abstract available.

PMID:
19320016
16.

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.

Hum Genet. 2009 Apr;125(3):342. No abstract available.

PMID:
19320015
17.

Genotype distributions in top-level soccer players: a role for ACE?

Juffer P, Furrer R, González-Freire M, Santiago C, Verde Z, Serratosa L, Morate FJ, Rubio JC, Martin MA, Ruiz JR, Arenas J, Gómez-Gallego F, Lucia A.

Int J Sports Med. 2009 May;30(5):387-92. doi: 10.1055/s-0028-1105931. Epub 2009 Mar 10.

PMID:
19277943
18.

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.

J Med Genet. 2009 Mar;46(3):198-202. doi: 10.1136/jmg.2008.059469.

PMID:
19251976
19.

A phase II randomized trial of gemcitabine-docetaxel versus gemcitabine-cisplatin in patients with advanced non-small cell lung carcinoma.

Rubio JC, Vázquez S, Vázquez F, Amenedo M, Fírvida JL, Mel JR, Huidobro G, Alvarez E, Lázaro M, Alonso G, Fernández I; Galician Group of Lung Cancer (GGCP in the Spanish acronym).

Cancer Chemother Pharmacol. 2009 Jul;64(2):379-84. doi: 10.1007/s00280-008-0884-6. Epub 2009 Jan 13.

PMID:
19139896
20.

C34T mutation of the AMPD1 gene in an elite white runner.

Lucia A, Martin MA, Esteve-Lanao J, San Juan AF, Rubio JC, Oliván J, Arenas J.

BMJ Case Rep. 2009;2009. pii: bcr07.2008.0535. doi: 10.1136/bcr.07.2008.0535. Epub 2009 Jan 23.

21.

World-class performance in lightweight rowing: is it genetically influenced? A comparison with cyclists, runners and non-athletes.

Muniesa CA, González-Freire M, Santiago C, Lao JI, Buxens A, Rubio JC, Martín MA, Arenas J, Gomez-Gallego F, Lucia A.

Br J Sports Med. 2010 Sep;44(12):898-901. doi: 10.1136/bjsm.2008.051680. Epub 2008 Sep 18.

PMID:
18801770
22.

McArdle disease: another systemic low-inflammation disorder?

Lucia A, Smith L, Naidoo M, González-Freire M, Pérez M, Rubio JC, Martín MA, Andreu AL, Arenas J.

Neurosci Lett. 2008 Jan 31;431(2):106-11. Epub 2007 Dec 4.

PMID:
18162322
23.

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.

Hum Mutat. 2008 Feb;29(2):277-83.

PMID:
17994553
24.

[Private mutations in the myophosphorylase gene: the first case in a patient of Latin American descent].

Fernandez-Cadenas I, Nogales-Gadea G, Llige D, Rubio JC, Montaner J, Arenas J, Raspall-Chaure M, Roig-Quilis M, Andreu AL.

Rev Neurol. 2007 Sep 1-15;45(5):280-3. Spanish.

25.

Exercise capacity in a child with McArdle disease.

Pérez M, Maté-Muñoz JL, Foster C, Rubio JC, Andreu AL, Martín MA, Arenas J, Lucia A.

J Child Neurol. 2007 Jul;22(7):880-2.

PMID:
17715283
26.

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.

Int J Sports Med. 2008 Apr;29(4):331-5. Epub 2007 Aug 9.

PMID:
17687759
27.

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.

Neurosci Lett. 2007 Jul 18;422(3):217-22. Epub 2007 Jun 21.

PMID:
17630210
28.

Favorable responses to acute and chronic exercise in McArdle patients.

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.

Clin J Sport Med. 2007 Jul;17(4):297-303.

PMID:
17620784
29.

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.

Br J Sports Med. 2008 Feb;42(2):134-40. Epub 2007 Jul 6.

PMID:
17616548
30.

Determination of metallic traces in kidneys, livers, lungs and spleens of rats with metallic implants after a long implantation time.

Rubio JC, Garcia-Alonso MC, Alonso C, Alobera MA, Clemente C, Munuera L, Escudero ML.

J Mater Sci Mater Med. 2008 Jan;19(1):369-75. Epub 2007 Jul 3.

PMID:
17607514
31.

The 577X allele of the ACTN3 gene is associated with improved exercise capacity in women with McArdle's disease.

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.

Neuromuscul Disord. 2007 Aug;17(8):603-10. Epub 2007 Jun 8.

PMID:
17560787
32.

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.

Hum Mutat. 2007 Feb;28(2):203-4.

PMID:
17221871
33.

Novel mutation in the PYGM gene resulting in McArdle disease.

Rubio JC, Lucia A, Fernández-Cadenas I, Cabello A, Blázquez A, Gámez J, Andreu AL, Martín MA, Arenas J.

Arch Neurol. 2006 Dec;63(12):1782-4.

PMID:
17172620
34.

Can patients with McArdle's disease run?

Pérez M, Moran M, Cardona C, Maté-Muñoz JL, Rubio JC, Andreu AL, Martin MA, Arenas J, Lucia A.

Br J Sports Med. 2007 Jan;41(1):53-4. Epub 2006 Sep 25.

35.

Exercise capacity in a 78 year old patient with McArdle's disease: it is never too late to start exercising.

Perez M, Martin MA, Rubio JC, Maté-Muñoz JL, Gómez-Gallego F, Foster C, Andreu AL, Arenas J, Lucia A, Fleck SJ.

Br J Sports Med. 2006 Aug;40(8):725-6; discussion 726.

36.

Does the C34T mutation in AMPD1 alter exercise capacity in the elderly?

Pérez M, Martin MA, Cañete S, Rubio JC, Fernández-Moreira D, San Juan AF, Gómez-Gallego F, Santiago C, Arenas J, Lucia A.

Int J Sports Med. 2006 Jun;27(6):429-35.

PMID:
16767606
37.

C34T mutation of the AMPD1 gene in an elite white runner.

Lucia A, Martin MA, Esteve-Lanao J, San Juan AF, Rubio JC, Oliván J, Arenas J.

Br J Sports Med. 2006 Mar;40(3):e7.

38.

Frequency of the C34T mutation of the AMPD1 gene in world-class endurance athletes: does this mutation impair performance?

Rubio JC, Martín MA, Rabadán M, Gómez-Gallego F, San Juan AF, Alonso JM, Chicharro JL, Pérez M, Arenas J, Lucia A.

J Appl Physiol (1985). 2005 Jun;98(6):2108-12. Epub 2005 Jan 27.

39.

Molecular analysis of myophosphorylase deficiency in Dutch patients with McArdle's disease.

Martín MA, Rubio JC, Wevers RA, Van Engelen BG, Steenbergen GC, Van Diggelen OP, De Visser M, De Die-Smulders C, Blázquez A, Andreu AL, Arenas J.

Ann Hum Genet. 2004 Jan;68(Pt 1):17-22.

40.

Prevalence and progression of mitochondrial diseases: a study of 50 patients.

Arpa J, Cruz-Martínez A, Campos Y, Gutiérrez-Molina M, García-Rio F, Pérez-Conde C, Martín MA, Rubio JC, Del Hoyo P, Arpa-Fernández A, Arenas J.

Muscle Nerve. 2003 Dec;28(6):690-5.

PMID:
14639582
41.

Splicing mosaic of the myophosphorylase gene due to a silent mutation in McArdle disease.

Fernandez-Cadenas I, Andreu AL, Gamez J, Gonzalo R, Martín MA, Rubio JC, Arenas J.

Neurology. 2003 Nov 25;61(10):1432-4.

PMID:
14638972
42.

Defective hepatic mitochondrial respiratory chain in patients with nonalcoholic steatohepatitis.

Pérez-Carreras M, Del Hoyo P, Martín MA, Rubio JC, Martín A, Castellano G, Colina F, Arenas J, Solis-Herruzo JA.

Hepatology. 2003 Oct;38(4):999-1007.

PMID:
14512887
43.

Two novel mutations in the muscle glycogen phosphorylase gene in McArdle's disease.

Gámez J, Rubio JC, Martín MA, Fernández-Cadenas I, Garcia-Arumi E, Andreu AL, Arenas J.

Muscle Nerve. 2003 Sep;28(3):380-2.

PMID:
12929201
44.

Two pathogenic mutations in the mitochondrial DNA tRNA Leu(UUR) gene (T3258C and A3280G) resulting in variable clinical phenotypes.

Campos Y, García A, del Hoyo P, Jara P, Martín MA, Rubio JC, Berbel A, Barberá JR, Ribacoba R, Astudillo A, Cabello A, Ricoy JR, Arenas J.

Neuromuscul Disord. 2003 Jun;13(5):416-20.

PMID:
12798797
45.

Molecular analysis of the superoxide dismutase 1 gene in Spanish patients with sporadic or familial amyotrophic lateral sclerosis.

García-Redondo A, Bustos F, Juan Y Seva B, Del Hoyo P, Jiménez S, Campos Y, Martín MA, Rubio JC, Cañadillas F, Arenas J, Esteban J.

Muscle Nerve. 2002 Aug;26(2):274-8.

PMID:
12210393
46.

Cosegregation of the mitochondrial DNA A1555G and G4309A mutations results in deafness and mitochondrial myopathy.

Campos Y, García A, López A, Jiménez S, Rubio JC, Del Hoyo P, Bustos F, Martín MA, Cabello A, Ricoy JR, Arenas J.

Muscle Nerve. 2002 Feb;25(2):185-8.

PMID:
11870684
47.

The A8296G mtDNA mutation associated with several mitochondrial diseases does not cause mitochondrial dysfunction in cybrid cell lines.

Bornstein B, Mas JA, Fernández-Moreno MA, Campos Y, Martín MA, del Hoyo P, Rubio JC, Arenas J, Garesse R.

Hum Mutat. 2002 Mar;19(3):234-9.

PMID:
11857739
48.

Mitochondrial myopathy, cardiomyopathy and psychiatric illness in a Spanish family harbouring the mtDNA 3303C > T mutation.

Campos Y, García A, Eiris J, Fuster M, Rubio JC, Martín MA, del Hoyo P, Pintos E, Castro-Gago M, Arenas J.

J Inherit Metab Dis. 2001 Nov;24(6):685-7. No abstract available.

PMID:
11768589
49.

Molecular heterogeneity of myophosphorylase deficiency (McArdle's disease): a genotype-phenotype correlation study.

Martín MA, Rubio JC, Buchbinder J, Fernández-Hojas R, del Hoyo P, Teijeira S, Gámez J, Navarro C, Fernández JM, Cabello A, Campos Y, Cervera C, Culebras JM, Andreu AL, Fletterick R, Arenas J.

Ann Neurol. 2001 Nov;50(5):574-81.

PMID:
11706962
50.

Early-onset multisystem mitochondrial disorder caused by a nonsense mutation in the mitochondrial DNA cytochrome C oxidase II gene.

Campos Y, García-Redondo A, Fernández-Moreno MA, Martínez-Pardo M, Goda G, Rubio JC, Martín MA, del Hoyo P, Cabello A, Bornstein B, Garesse R, Arenas J.

Ann Neurol. 2001 Sep;50(3):409-13.

PMID:
11558799

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