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Best matches for Pocoví M[au]:

Autosomal recessive hypercholesterolemia in Spain. Sánchez-Hernández RM et al. Atherosclerosis. (2018)

The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease. Hendriksz CJ et al. Curr Med Res Opin. (2017)

ABCG5/G8 gene is associated with hypercholesterolemias without mutation in candidate genes and noncholesterol sterols. Lamiquiz-Moneo I et al. J Clin Lipidol. (2017)

Search results

Items: 1 to 50 of 167

1.

Evaluation of Chitotriosidase and CC-Chemokine Ligand 18 as Biomarkers of Microglia Activation in Amyotrophic Lateral Sclerosis.

Martinez-Merino L, Iridoy M, Galbete A, Roldán M, Rivero A, Acha B, Irún P, Canosa C, Pocoví M, Mendioroz M, Jericó I.

Neurodegener Dis. 2018;18(4):208-215. doi: 10.1159/000490920. Epub 2018 Aug 22.

PMID:
30134252
2.

Familial hypercholesterolemia in pediatric patients. The success begins here.

Civeira F, Pocoví M.

Clin Investig Arterioscler. 2018 Jul - Aug;30(4):179-180. doi: 10.1016/j.arteri.2018.06.001. English, Spanish. No abstract available.

PMID:
29986810
3.

Sleep duration and subclinical atherosclerosis: The Aragon Workers' Health Study.

Blasco-Colmenares E, Moreno-Franco B, Latre ML, Mur-Vispe E, Pocovi M, Jarauta E, Civeira F, Laclaustra M, Casasnovas JA, Guallar E.

Atherosclerosis. 2018 Jul;274:35-40. doi: 10.1016/j.atherosclerosis.2018.05.003. Epub 2018 May 3.

PMID:
29751282
4.

Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update.

Patterson MC, Clayton P, Gissen P, Anheim M, Bauer P, Bonnot O, Dardis A, Dionisi-Vici C, Klünemann HH, Latour P, Lourenço CM, Ory DS, Parker A, Pocoví M, Strupp M, Vanier MT, Walterfang M, Marquardt T.

Neurol Clin Pract. 2017 Dec;7(6):499-511. doi: 10.1212/CPJ.0000000000000399. Review.

5.

Autosomal Recessive Hypercholesterolemia: Long-Term Cardiovascular Outcomes.

D'Erasmo L, Minicocci I, Nicolucci A, Pintus P, Roeters Van Lennep JE, Masana L, Mata P, Sánchez-Hernández RM, Prieto-Matos P, Real JT, Ascaso JF, Lafuente EE, Pocovi M, Fuentes FJ, Muntoni S, Bertolini S, Sirtori C, Calabresi L, Pavanello C, Averna M, Cefalu AB, Noto D, Pacifico AA, Pes GM, Harada-Shiba M, Manzato E, Zambon S, Zambon A, Vogt A, Scardapane M, Sjouke B, Fellin R, Arca M.

J Am Coll Cardiol. 2018 Jan 23;71(3):279-288. doi: 10.1016/j.jacc.2017.11.028. Erratum in: J Am Coll Cardiol. 2018 Mar 6;71(9):1058.

PMID:
29348020
6.

Autosomal recessive hypercholesterolemia in Spain.

Sánchez-Hernández RM, Prieto-Matos P, Civeira F, Lafuente EE, Vargas MF, Real JT, Goicoechea FG, Fuentes FJ, Pocovi M, Boronat M, Wägner AM, Masana L.

Atherosclerosis. 2018 Feb;269:1-5. doi: 10.1016/j.atherosclerosis.2017.12.006. Epub 2017 Dec 6.

PMID:
29245109
7.

ABCG5/G8 gene is associated with hypercholesterolemias without mutation in candidate genes and noncholesterol sterols.

Lamiquiz-Moneo I, Baila-Rueda L, Bea AM, Mateo-Gallego R, Pérez-Calahorra S, Marco-Benedí V, Martín-Navarro A, Ros E, Cofán M, Rodríguez-Rey JC, Pocovi M, Cenarro A, Civeira F.

J Clin Lipidol. 2017 Nov - Dec;11(6):1432-1440.e4. doi: 10.1016/j.jacl.2017.09.005. Epub 2017 Oct 4.

PMID:
29066094
8.

Functional analysis of new 3' untranslated regions genetic variants in genes associated with genetic hypercholesterolemias.

Pérez-Campo FM, De Castro-Orós I, Noriega A, Cofán M, Lamiquiz-Moneo I, Cenarro A, Ros E, Civeira F, Pocoví M, Rodríguez-Rey JC.

J Clin Lipidol. 2017 Mar - Apr;11(2):532-542. doi: 10.1016/j.jacl.2017.02.004. Epub 2017 Feb 28.

PMID:
28502511
9.

Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease.

Andrade-Campos M, Alfonso P, Irun P, Armstrong J, Calvo C, Dalmau J, Domingo MR, Barbera JL, Cano H, Fernandez-Galán MA, Franco R, Gracia I, Gracia-Antequera M, Ibañez A, Lendinez F, Madruga M, Martin-Hernández E, O'Callaghan MDM, Del Soto AP, Del Prado YR, Sancho-Val I, Sanjurjo P, Pocovi M, Giraldo P.

Orphanet J Rare Dis. 2017 May 3;12(1):84. doi: 10.1186/s13023-017-0627-z.

10.

The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease.

Hendriksz CJ, Anheim M, Bauer P, Bonnot O, Chakrapani A, Corvol JC, de Koning TJ, Degtyareva A, Dionisi-Vici C, Doss S, Duning T, Giunti P, Iodice R, Johnston T, Kelly D, Klünemann HH, Lorenzl S, Padovani A, Pocovi M, Synofzik M, Terblanche A, Then Bergh F, Topçu M, Tranchant C, Walterfang M, Velten C, Kolb SA.

Curr Med Res Opin. 2017 May;33(5):877-890. doi: 10.1080/03007995.2017.1294054. Epub 2017 Mar 2. Review.

PMID:
28276873
11.

Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: a prospective observational study.

De Castro-Orós I, Irún P, Cebolla JJ, Rodriguez-Sureda V, Mallén M, Pueyo MJ, Mozas P, Dominguez C, Pocoví M; Spanish NP-C Group.

J Transl Med. 2017 Feb 21;15(1):43. doi: 10.1186/s12967-017-1146-3.

12.

Twelve years of experience with miglustat in the treatment of type 1 Gaucher disease: The Spanish ZAGAL project.

Giraldo P, Andrade-Campos M, Alfonso P, Irun P, Atutxa K, Acedo A, Barez A, Blanes M, Diaz-Morant V, Fernández-Galán MA, Franco R, Gil-Cortes C, Giner V, Ibañez A, Latre P, Loyola I, Luño E, Hernández-Martin R, Medrano-Engay B, Puerta J, Roig I, de la Serna J, Salamero O, Villalón L, Pocovi M.

Blood Cells Mol Dis. 2018 Feb;68:173-179. doi: 10.1016/j.bcmd.2016.10.017. Epub 2016 Oct 24.

PMID:
27836529
13.

Homozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship.

Sánchez-Hernández RM, Civeira F, Stef M, Perez-Calahorra S, Almagro F, Plana N, Novoa FJ, Sáenz-Aranzubía P, Mosquera D, Soler C, Fuentes FJ, Brito-Casillas Y, Real JT, Blanco-Vaca F, Ascaso JF, Pocovi M.

Circ Cardiovasc Genet. 2016 Dec;9(6):504-510. doi: 10.1161/CIRCGENETICS.116.001545. Epub 2016 Oct 26.

PMID:
27784735
14.

Rare genetic variants with large effect on triglycerides in subjects with a clinical diagnosis of familial vs nonfamilial hypertriglyceridemia.

De Castro-Orós I, Civeira F, Pueyo MJ, Mateo-Gallego R, Bolado-Carrancio A, Lamíquiz-Moneo I, Álvarez-Sala L, Fabiani F, Cofán M, Cenarro A, Rodríguez-Rey JC, Ros E, Pocoví M.

J Clin Lipidol. 2016 Jul-Aug;10(4):790-797. doi: 10.1016/j.jacl.2016.02.010. Epub 2016 Feb 23.

PMID:
27578109
15.

[PCSK9 continues surprising us].

Pocoví M.

Clin Investig Arterioscler. 2016 Mar-Apr;28(2):79-81. doi: 10.1016/j.arteri.2016.03.001. Spanish. No abstract available.

PMID:
27040976
16.

Genetic Variants of LDLR and PCSK9 Associated with Variations in Response to Antihypercholesterolemic Effects of Armolipid Plus with Berberine.

De Castro-Orós I, Solà R, Valls RM, Brea A, Mozas P, Puzo J, Pocoví M.

PLoS One. 2016 Mar 25;11(3):e0150785. doi: 10.1371/journal.pone.0150785. eCollection 2016.

17.

Femoral and Carotid Subclinical Atherosclerosis Association With Risk Factors and Coronary Calcium: The AWHS Study.

Laclaustra M, Casasnovas JA, Fernández-Ortiz A, Fuster V, León-Latre M, Jiménez-Borreguero LJ, Pocovi M, Hurtado-Roca Y, Ordovas JM, Jarauta E, Guallar E, Ibañez B, Civeira F.

J Am Coll Cardiol. 2016 Mar 22;67(11):1263-74. doi: 10.1016/j.jacc.2015.12.056.

18.

Increased glycolipid storage produced by the inheritance of a complex intronic haplotype in the α-galactosidase A (GLA) gene.

Gervas-Arruga J, Cebolla JJ, Irun P, Perez-Lopez J, Plaza L, Roche JC, Capablo JL, Rodriguez-Rey JC, Pocovi M, Giraldo P.

BMC Genet. 2015 Sep 3;16:109. doi: 10.1186/s12863-015-0267-z.

19.

Glycated Hemoglobin, Fasting Insulin and the Metabolic Syndrome in Males. Cross-Sectional Analyses of the Aragon Workers' Health Study Baseline.

Saravia G, Civeira F, Hurtado-Roca Y, Andres E, Leon M, Pocovi M, Ordovas J, Guallar E, Fernandez-Ortiz A, Casasnovas JA, Laclaustra M.

PLoS One. 2015 Aug 4;10(8):e0132244. doi: 10.1371/journal.pone.0132244. eCollection 2015.

20.

The influence of genetic variability and proinflammatory status on the development of bone disease in patients with Gaucher disease.

Gervas-Arruga J, Cebolla JJ, de Blas I, Roca M, Pocovi M, Giraldo P.

PLoS One. 2015 May 15;10(5):e0126153. doi: 10.1371/journal.pone.0126153. eCollection 2015.

21.

[Identification of variants in LMF1 gene associated with primary hypertriglyceridemia].

Lamiquiz-Moneo I, Bea AM, Mateo-Gallego R, Baila-Rueda L, Cenarro A, Pocoví M, Civeira F, de Castro-Orós I.

Clin Investig Arterioscler. 2015 Sep-Oct;27(5):246-52. doi: 10.1016/j.arteri.2015.02.005. Epub 2015 Mar 26. Spanish.

PMID:
25817768
22.

Association of ferritin elevation and metabolic syndrome in males. Results from the Aragon Workers' Health Study (AWHS).

Ledesma M, Hurtado-Roca Y, Leon M, Giraldo P, Pocovi M, Civeira F, Guallar E, Ordovas JM, Casasnovas JA, Laclaustra M.

J Clin Endocrinol Metab. 2015 May;100(5):2081-9. doi: 10.1210/jc.2014-4409. Epub 2015 Feb 19.

PMID:
25695891
23.

Common genetic variants contribute to primary hypertriglyceridemia without differences between familial combined hyperlipidemia and isolated hypertriglyceridemia.

De Castro-Orós I, Cenarro A, Tejedor MT, Baila-Rueda L, Mateo-Gallego R, Lamiquiz-Moneo I, Pocoví M, Civeira F.

Circ Cardiovasc Genet. 2014 Dec;7(6):814-21. doi: 10.1161/CIRCGENETICS.114.000522. Epub 2014 Aug 30.

PMID:
25176936
24.

Iron homeostasis and infIammatory biomarker analysis in patients with type 1 Gaucher disease.

Medrano-Engay B, Irun P, Gervas-Arruga J, Andrade-Campos M, Andreu V, Alfonso P, Pocovi M, Giraldo P.

Blood Cells Mol Dis. 2014 Dec;53(4):171-5. doi: 10.1016/j.bcmd.2014.07.007. Epub 2014 Aug 18.

PMID:
25153906
25.

A genetic variant in the LDLR promoter is responsible for part of the LDL-cholesterol variability in primary hypercholesterolemia.

De Castro-Orós I, Pérez-López J, Mateo-Gallego R, Rebollar S, Ledesma M, León M, Cofán M, Casasnovas JA, Ros E, Rodríguez-Rey JC, Civeira F, Pocoví M.

BMC Med Genomics. 2014 Apr 7;7:17. doi: 10.1186/1755-8794-7-17.

26.

Chitotriosidase variants in patients with Gaucher disease. Implications for diagnosis and therapeutic monitoring.

Irún P, Alfonso P, Aznarez S, Giraldo P, Pocovi M.

Clin Biochem. 2013 Dec;46(18):1804-7. doi: 10.1016/j.clinbiochem.2013.09.006. Epub 2013 Sep 20.

PMID:
24060732
27.

[Expert consensus on the detection and clinical management of familial hypercholesterolemia].

Masana L, Civeira F, Pedro-Botet J, de Castro I, Pocoví M, Plana N, Mateo-Gallego R, Jarauta E, Pedragosa À.

Clin Investig Arterioscler. 2013 Sep-Oct;25(4):182-93. doi: 10.1016/j.arteri.2013.07.005. Epub 2013 Sep 14. Spanish.

PMID:
24041477
28.

Characterization of variants in the glucosylceramide synthase gene and their association with type 1 Gaucher disease severity.

Alfonso P, Navascués J, Navarro S, Medina P, Bolado-Carrancio A, Andreu V, Irún P, Rodríguez-Rey JC, Pocoví M, España F, Giraldo P.

Hum Mutat. 2013 Oct;34(10):1396-403. doi: 10.1002/humu.22381. Epub 2013 Aug 13.

PMID:
23913449
29.

Bicyclic derivatives of L-idonojirimycin as pharmacological chaperones for neuronopathic forms of Gaucher disease.

Alfonso P, Andreu V, Pino-Angeles A, Moya-García AA, García-Moreno MI, Rodríguez-Rey JC, Sánchez-Jiménez F, Pocoví M, Ortiz Mellet C, García Fernández JM, Giraldo P.

Chembiochem. 2013 May 27;14(8):943-9. doi: 10.1002/cbic.201200708. Epub 2013 Apr 18.

PMID:
23606264
30.

Identification of seven novel SMPD1 mutations causing Niemann-Pick disease types A and B.

Irun P, Mallén M, Dominguez C, Rodriguez-Sureda V, Alvarez-Sala LA, Arslan N, Bermejo N, Guerrero C, Perez de Soto I, Villalón L, Giraldo P, Pocovi M.

Clin Genet. 2013 Oct;84(4):356-61. doi: 10.1111/cge.12076. Epub 2013 Jan 4.

PMID:
23252888
31.

Greater risk of parkinsonism associated with non-N370S GBA1 mutations.

Barrett MJ, Giraldo P, Capablo JL, Alfonso P, Irun P, Garcia-Rodriguez B, Pocovi M, Pastores GM.

J Inherit Metab Dis. 2013 May;36(3):575-80. doi: 10.1007/s10545-012-9527-5. Epub 2012 Sep 12.

32.

Aragon workers' health study--design and cohort description.

Casasnovas JA, Alcaide V, Civeira F, Guallar E, Ibañez B, Borreguero JJ, Laclaustra M, León M, Peñalvo JL, Ordovás JM, Pocovi M, Sanz G, Fuster V.

BMC Cardiovasc Disord. 2012 Jun 19;12:45. doi: 10.1186/1471-2261-12-45.

33.

Apolipoprotein E gene mutations in subjects with mixed hyperlipidemia and a clinical diagnosis of familial combined hyperlipidemia.

Solanas-Barca M, de Castro-Orós I, Mateo-Gallego R, Cofán M, Plana N, Puzo J, Burillo E, Martín-Fuentes P, Ros E, Masana L, Pocoví M, Civeira F, Cenarro A.

Atherosclerosis. 2012 Jun;222(2):449-55. doi: 10.1016/j.atherosclerosis.2012.03.011. Epub 2012 Mar 16.

PMID:
22481068
34.

Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula.

Giraldo P, Alfonso P, Irún P, Gort L, Chabás A, Vilageliu L, Grinberg D, Sá Miranda CM, Pocovi M.

Orphanet J Rare Dis. 2012 Mar 19;7:17. doi: 10.1186/1750-1172-7-17.

35.

[Molecular basis of treatment in Gaucher's disease].

Pocoví M.

Med Clin (Barc). 2011 Sep;137 Suppl 1:32-8. doi: 10.1016/S0025-7753(11)70014-8. Spanish.

PMID:
22230123
36.

[Genetics of Gaucher's disease. Genotype-phenotype correlation].

Alfonso Palacín P, Pocoví M.

Med Clin (Barc). 2011 Sep;137 Suppl 1:17-22. doi: 10.1016/S0025-7753(11)70012-4. Spanish.

PMID:
22230121
37.

Gaucher disease: a pyrosequencing frequency analysis of the N370S and L444P mutations in the Spanish population.

García-Rodríguez B, Alfonso P, Mallén M, Pocoví M, Giraldo P.

Clin Genet. 2012 May;81(5):495-7. doi: 10.1111/j.1399-0004.2011.01757.x. Epub 2011 Dec 28. No abstract available.

PMID:
22220748
38.

Therapeutic strategies for Gaucher disease: miglustat (NB-DNJ) as a pharmacological chaperone for glucocerebrosidase and the different thermostability of velaglucerase alfa and imiglucerase.

Abian O, Alfonso P, Velazquez-Campoy A, Giraldo P, Pocovi M, Sancho J.

Mol Pharm. 2011 Dec 5;8(6):2390-7. doi: 10.1021/mp200313e. Epub 2011 Nov 3.

PMID:
21988669
39.

New contributions to the study of common double mutants in the human LDL receptor gene.

Tejedor MT, Cenarro A, Tejedor D, Stef M, Palacios L, de Castro I, García-Otín AL, Monteagudo LV, Civeira F, Pocovi M.

Naturwissenschaften. 2011 Nov;98(11):943-9. doi: 10.1007/s00114-011-0845-5. Epub 2011 Sep 21.

PMID:
21935675
40.

Expression and purification of recombinant apolipoprotein A-I Zaragoza (L144R) and formation of reconstituted HDL particles.

Fiddyment S, Barceló-Batllori S, Pocoví M, García-Otín AL.

Protein Expr Purif. 2011 Nov;80(1):110-6. doi: 10.1016/j.pep.2011.07.004. Epub 2011 Jul 23.

PMID:
21802513
41.

Functional analysis of LDLR promoter and 5' UTR mutations in subjects with clinical diagnosis of familial hypercholesterolemia.

De Castro-Orós I, Pampín S, Bolado-Carrancio A, De Cubas A, Palacios L, Plana N, Puzo J, Martorell E, Stef M, Masana L, Civeira F, Rodríguez-Rey JC, Pocoví M.

Hum Mutat. 2011 Aug;32(8):868-72. doi: 10.1002/humu.21520. Epub 2011 Jul 12.

PMID:
21538688
42.

Neurological manifestations in patients with Gaucher disease and their relatives, it is just a coincidence?

Giraldo P, Capablo JL, Alfonso P, Garcia-Rodriguez B, Latre P, Irun P, de Cabezon AS, Pocovi M.

J Inherit Metab Dis. 2011 Jun;34(3):781-7. doi: 10.1007/s10545-011-9298-4. Epub 2011 Mar 8.

PMID:
21384230
43.

Metabolic syndrome and coronary heart disease among Spanish male workers: a case-control study of MESYAS.

Laclaustra M, Ordoñez B, Leon M, Andres EM, Cordero A, Pascual-Calleja I, Grima A, Luengo E, Alegria E, Pocovi M, Civeira F, Casasnovas-Lenguas JA.

Nutr Metab Cardiovasc Dis. 2012 Jun;22(6):510-6. doi: 10.1016/j.numecd.2010.09.009. Epub 2010 Dec 24.

PMID:
21186101
44.

Characterization of the c.(-203)A>G variant in the glucocerebrosidase gene and its association with phenotype in Gaucher disease.

Alfonso P, Pampín S, García-Rodríguez B, Tejedor T, Domínguez C, Rodríguez-Rey JC, Giraldo P, Pocoví M.

Clin Chim Acta. 2011 Jan 30;412(3-4):365-9. doi: 10.1016/j.cca.2010.11.013. Epub 2010 Nov 16.

PMID:
21087600
45.

Evaluation of Spanish Gaucher disease patients after a 6-month imiglucerase shortage.

Giraldo P, Irún P, Alfonso P, Dalmau J, Fernández-Galán MA, Figueredo A, Hernández-Rivas JM, Julia A, Luño E, Marín-Jimenez F, Martín-Nuñez G, Montserrat JL, de la Serna J, Vidaller A, Villalón L, Pocovi M.

Blood Cells Mol Dis. 2011 Jan 15;46(1):115-8. doi: 10.1016/j.bcmd.2010.09.005. Epub 2010 Oct 8.

PMID:
20934891
46.

Promoter variant -204A > C of the cholesterol 7α-hydroxylase gene: association with response to plant sterols in humans and increased transcriptional activity in transfected HepG2 cells.

De Castro-Orós I, Pampín S, Cofán M, Mozas P, Pintó X, Salas-Salvadó J, Rodríguez-Rey JC, Ros E, Civeira F, Pocoví M.

Clin Nutr. 2011 Apr;30(2):239-46. doi: 10.1016/j.clnu.2010.07.020. Epub 2010 Sep 29.

PMID:
20884100
47.

A presumptive new locus for autosomal dominant hypercholesterolemia mapping to 8q24.22.

Cenarro A, García-Otín AL, Tejedor MT, Solanas M, Jarauta E, Junquera C, Ros E, Mozas P, Puzo J, Pocoví M, Civeira F.

Clin Genet. 2011 May;79(5):475-81. doi: 10.1111/j.1399-0004.2010.01485.x.

PMID:
20629670
48.

Association of plasma markers of cholesterol homeostasis with metabolic syndrome components. A cross-sectional study.

Cofán M, Escurriol V, García-Otín AL, Moreno-Iribas C, Larrañaga N, Sánchez MJ, Tormo MJ, Redondo ML, González CA, Corella D, Pocoví M, Civeira F, Ros E.

Nutr Metab Cardiovasc Dis. 2011 Sep;21(9):651-7. doi: 10.1016/j.numecd.2010.01.005. Epub 2010 May 31.

PMID:
20554170
49.

Haplotype analyses, mechanism and evolution of common double mutants in the human LDL receptor gene.

Tejedor MT, Cenarro A, Tejedor D, Stef M, Mateo-Gallego R, de Castro I, García-Otin AL, Monteagudo LV, Civeira F, Pocovi M.

Mol Genet Genomics. 2010 Jun;283(6):565-74. doi: 10.1007/s00438-010-0541-8. Epub 2010 Apr 29.

PMID:
20428891
50.

Higher incidence of mild cognitive impairment in familial hypercholesterolemia.

Zambón D, Quintana M, Mata P, Alonso R, Benavent J, Cruz-Sánchez F, Gich J, Pocoví M, Civeira F, Capurro S, Bachman D, Sambamurti K, Nicholas J, Pappolla MA.

Am J Med. 2010 Mar;123(3):267-74. doi: 10.1016/j.amjmed.2009.08.015.

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