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Best matches for Pinós T[au]:

Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update. Santalla A et al. BMC Genomics. (2017)

Exercise and Preexercise Nutrition as Treatment for McArdle Disease. Nogales-Gadea G et al. Med Sci Sports Exerc. (2016)

Genes and exercise intolerance: insights from McArdle disease. Nogales-Gadea G et al. Physiol Genomics. (2016)

Search results

Items: 1 to 50 of 56

1.

Systemic AAV8-mediated delivery of a functional copy of muscle glycogen phosphorylase (Pygm) ameliorates disease in a murine model of McArdle disease.

McNamara EL, Taylor RL, Clayton JS, Goullee H, Dilworth KL, Pinós T, Brull A, Alexander IE, Lisowski L, Ravenscroft G, Laing NG, Nowak KJ.

Hum Mol Genet. 2019 Sep 12. pii: ddz214. doi: 10.1093/hmg/ddz214. [Epub ahead of print]

PMID:
31511858
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.

Modified Yarham and Smith scores for pathogenicity assessment of mtDNA tRNA variants - Response.

Scarpelli M, Carreño-Gago L, Russignan A, de Luna N, Carnicer-Cáceres C, Ariatti LA, Verriello GD, Tonin P, Garcia-Arumi E, Pinós T.

Neuromuscul Disord. 2018 Apr;28(4):374-375. doi: 10.1016/j.nmd.2018.01.011. Epub 2018 Jan 31. No abstract available.

PMID:
29482911
5.

Clinical utility gene card for McArdle disease.

Taylor RL, Davis M, Turner E, Brull A, Pinos T, Cabrera M, Nowak KJ.

Eur J Hum Genet. 2018 May;26(5):758-764. doi: 10.1038/s41431-017-0070-6. Epub 2018 Jan 25.

6.

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.

7.

Identification and characterization of the novel m.8305C>T MTTK and m.4440G>A MTTM gene mutations causing mitochondrial myopathies.

Scarpelli M, Carreño-Gago L, Russignan A, de Luna N, Carnicer-Cáceres C, Ariatti A, Verriello L, Devigili G, Tonin P, Garcia-Arumi E, Pinós T.

Neuromuscul Disord. 2018 Feb;28(2):137-143. doi: 10.1016/j.nmd.2017.10.006. Epub 2017 Oct 31.

PMID:
29174468
8.

Exercising with blocked muscle glycogenolysis: Adaptation in the McArdle mouse.

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

Mol Genet Metab. 2018 Jan;123(1):21-27. doi: 10.1016/j.ymgme.2017.11.006. Epub 2017 Nov 21.

PMID:
29174367
9.

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.

10.

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.

11.

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
12.

Identification and characterization of the novel point mutation m.3634A>G in the mitochondrial MT-ND1 gene associated with LHON syndrome.

Carreño-Gago L, Gamez J, Cámara Y, Alvarez de la Campa E, Aller-Alvarez JS, Moncho D, Salvado M, Galan A, de la Cruz X, Pinós T, García-Arumí E.

Biochim Biophys Acta Mol Basis Dis. 2017 Jan;1863(1):182-187. doi: 10.1016/j.bbadis.2016.09.002. Epub 2016 Sep 7.

13.

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.

14.

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
15.

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
16.

Exercise and Preexercise Nutrition as Treatment for McArdle Disease.

Nogales-Gadea G, Santalla A, Ballester-Lopez A, Arenas J, Martín MA, Godfrey R, Pinós T, Pintos-Morell G, Coll-Cantí J, Lucia A.

Med Sci Sports Exerc. 2016 Apr;48(4):673-9. doi: 10.1249/MSS.0000000000000812. Review.

PMID:
26559449
17.

Genes and exercise intolerance: insights from McArdle disease.

Nogales-Gadea G, Godfrey R, Santalla A, Coll-Cantí J, Pintos-Morell G, Pinós T, Arenas J, Martín MA, Lucia A.

Physiol Genomics. 2016 Feb;48(2):93-100. doi: 10.1152/physiolgenomics.00076.2015. Epub 2015 Oct 13. Review.

PMID:
26465709
18.

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
19.

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
20.

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
21.

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.

22.

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.

23.

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.

24.

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
25.

The pathogenomics of McArdle disease--genes, enzymes, models, and therapeutic implications.

Nogales-Gadea G, Santalla A, Brull A, de Luna N, Lucia A, Pinós T.

J Inherit Metab Dis. 2015 Mar;38(2):221-30. doi: 10.1007/s10545-014-9743-2. Epub 2014 Jul 23.

PMID:
25053163
26.

McArdle disease: a unique study model in sports medicine.

Santalla A, Nogales-Gadea G, Ørtenblad N, Brull A, de Luna N, Pinós T, Lucia A.

Sports Med. 2014 Nov;44(11):1531-44. doi: 10.1007/s40279-014-0223-5. Review.

PMID:
25028051
27.

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.

28.

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.

29.

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
30.

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.

31.

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
32.

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
33.

'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
34.

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
35.

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.

36.

Human SHBG mRNA translation is modulated by alternative 5'-non-coding exons 1A and 1B.

Pinós T, Barbosa-Desongles A, Hurtado A, Santamaria-Martínez A, de Torres I, Reventós J, Munell F.

PLoS One. 2010 Nov 4;5(11):e13844. doi: 10.1371/journal.pone.0013844.

37.

A novel mutation in the mitochondrial tRNA(Ala) gene (m.5636T>C) in a patient with progressive external ophthalmoplegia.

Pinós T, Marotta M, Gallardo E, Illa I, Díaz-Manera J, Gonzalez-Vioque E, García-Arumí E, Andreu AL, Martí R.

Mitochondrion. 2011 Jan;11(1):228-33. doi: 10.1016/j.mito.2010.08.008. Epub 2010 Sep 8.

PMID:
20813205
38.

Identification, characterization and expression of novel Sex Hormone Binding Globulin alternative first exons in the human prostate.

Pinós T, Barbosa-Desongles A, Hurtado A, Santamaria-Martínez A, de Torres I, Morote J, Reventós J, Munell F.

BMC Mol Biol. 2009 Jun 17;10:59. doi: 10.1186/1471-2199-10-59.

39.

Identification of multipotent mesenchymal stromal cells in the reactive stroma of a prostate cancer xenograft by side population analysis.

Santamaria-Martínez A, Barquinero J, Barbosa-Desongles A, Hurtado A, Pinós T, Seoane J, Poupon MF, Morote J, Reventós J, Munell F.

Exp Cell Res. 2009 Oct 15;315(17):3004-13. doi: 10.1016/j.yexcr.2009.05.007. Epub 2009 May 15.

PMID:
19447103
40.

Estrogen receptor beta displays cell cycle-dependent expression and regulates the G1 phase through a non-genomic mechanism in prostate carcinoma cells.

Hurtado A, Pinós T, Barbosa-Desongles A, López-Avilés S, Barquinero J, Petriz J, Santamaria-Martínez A, Morote J, de Torres I, Bellmunt J, Reventós J, Munell F.

Cell Oncol. 2008;30(4):349-65.

41.

Evidence that fibulin family members contribute to the steroid-dependent extravascular sequestration of sex hormone-binding globulin.

Ng KM, Catalano MG, Pinós T, Selva DM, Avvakumov GV, Munell F, Hammond GL.

J Biol Chem. 2006 Jun 9;281(23):15853-61. Epub 2006 Apr 6.

42.

Images in clinical medicine. The Gaudí-colon connection.

Pinós T, Xiol X.

N Engl J Med. 1998 Apr 23;338(17):1192. No abstract available.

43.

Caroli's disease versus polycystic hepatic disease. Differential diagnosis with Tc-99m DISIDA scintigraphy.

Pinós T, Xiol X, Herranz R, Figueras C, Catalá I.

Clin Nucl Med. 1993 Aug;18(8):664-7.

PMID:
8403697
44.

Scintigraphic diagnosis of Dubin-Johnson syndrome: DISIDA is also useful.

Pinós T, Figueras C, Herranz R.

Am J Gastroenterol. 1991 Nov;86(11):1687-8. No abstract available.

PMID:
1951255
45.

Doxicycline-induced esophagitis: treatment with liquid sucralphate.

Pinos T, Figueras C, Mas R.

Am J Gastroenterol. 1990 Jul;85(7):902-3. No abstract available.

PMID:
2371996
46.

A new diagnostic approach to the Dubin-Johnson syndrome.

Pinós T, Constansa JM, Palacin A, Figueras C.

Am J Gastroenterol. 1990 Jan;85(1):91-3.

PMID:
2296972
47.

[Considerations on subacute and chronic hepatitis, with special reference to its diagnosis by biopsy and laparoscopy].

PINOS TA, VILARDELL F.

Rev Esp Enferm Apar Dig Nutr. 1959 Dec;18:1592-615. Spanish. No abstract available.

PMID:
14433093
48.

[Intravenous cholangiocholecystography].

PINOS TA, PUIG GALLIFA J, ILLA CANTALLOPS J.

Rev Esp Enferm Apar Dig Nutr. 1955 Sep-Oct;14(5):657-74. Spanish. No abstract available.

PMID:
13290216
49.

[Medical cholangiocholecystography with biligrafin; results obtained in 90 cases].

PINOS TA, ILLA CANTALLOPS J, PUIG GALLIFA J.

Prensa Med Argent. 1955 May 13;42(19):1348-56. English, Spanish. No abstract available.

PMID:
13245687
50.

[Laparoscopy in study of the evolution of liver cirrhosis].

PINOS TA.

Rev Esp Enferm Apar Dig Nutr. 1954 Jul-Aug;13(4):437-9. English, Spanish. No abstract available.

PMID:
13225010

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