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Items: 1 to 50 of 138

1.

Severe infantile parkinsonism because of a de novo mutation on DLP1 mitochondrial-peroxisomal protein.

Díez H, Cortès-Saladelafont E, Ormazábal A, Marmiese AF, Armstrong J, Matalonga L, Bravo M, Briones P, Emperador S, Montoya J, Artuch R, Giros M, Garcia-Cazorla À.

Mov Disord. 2017 Jul;32(7):1108-1110. doi: 10.1002/mds.27021. Epub 2017 Apr 24. No abstract available.

PMID:
28436574
2.

A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis.

Pérez-Cerdá C, Girós ML, Serrano M, Ecay MJ, Gort L, Pérez Dueñas B, Medrano C, García-Alix A, Artuch R, Briones P, Pérez B.

J Pediatr. 2017 Apr;183:170-177.e1. doi: 10.1016/j.jpeds.2016.12.060. Epub 2017 Jan 27.

PMID:
28139241
3.

Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation.

Matalonga L, Bravo M, Serra-Peinado C, García-Pelegrí E, Ugarteburu O, Vidal S, Llambrich M, Quintana E, Fuster-Jorge P, Gonzalez-Bravo MN, Beltran S, Dopazo J, Garcia-Garcia F, Foulquier F, Matthijs G, Mills P, Ribes A, Egea G, Briones P, Tort F, Girós M.

Hum Mutat. 2017 Feb;38(2):148-151. doi: 10.1002/humu.23145. Epub 2016 Nov 26.

PMID:
27862579
4.

Ndufs4 related Leigh syndrome: A case report and review of the literature.

Ortigoza-Escobar JD, Oyarzabal A, Montero R, Artuch R, Jou C, Jiménez C, Gort L, Briones P, Muchart J, López-Gallardo E, Emperador S, Pesini ER, Montoya J, Pérez B, Rodríguez-Pombo P, Pérez-Dueñas B.

Mitochondrion. 2016 May;28:73-8. doi: 10.1016/j.mito.2016.04.001. Epub 2016 Apr 11. Review.

PMID:
27079373
5.

Medication Adherence in Patients on Chronic Hemodialysis: Practical Applications in Clinical Practice.

Briones PL, Merrill D, Salman L.

Nephrol Nurs J. 2015 Nov-Dec;42(6):585-8. Review. No abstract available.

PMID:
26875234
6.

A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis.

Ferrer-Cortès X, Narbona J, Bujan N, Matalonga L, Del Toro M, Arranz JA, Riudor E, Garcia-Cazorla A, Jou C, O'Callaghan M, Pineda M, Montero R, Arias A, García-Villoria J, Alston CL, Taylor RW, Briones P, Ribes A, Tort F.

Mitochondrion. 2016 Jan;26:72-80. doi: 10.1016/j.mito.2015.12.004. Epub 2015 Dec 11.

PMID:
26688339
7.

Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment.

Serrano M, de Diego V, Muchart J, Cuadras D, Felipe A, Macaya A, Velázquez R, Poo MP, Fons C, O'Callaghan MM, García-Cazorla A, Boix C, Robles B, Carratalá F, Girós M, Briones P, Gort L, Artuch R, Pérez-Cerdá C, Jaeken J, Pérez B, Pérez-Dueñas B.

Orphanet J Rare Dis. 2015 Oct 26;10:138. doi: 10.1186/s13023-015-0358-y.

8.

Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q10 content.

Asencio C, Rodríguez-Hernandez MA, Briones P, Montoya J, Cortés A, Emperador S, Gavilán A, Ruiz-Pesini E, Yubero D, Montero R, Pineda M, O'Callaghan MM, Alcázar-Fabra M, Salviati L, Artuch R, Navas P.

Eur J Hum Genet. 2016 Mar;24(3):367-72. doi: 10.1038/ejhg.2015.112. Epub 2015 May 27.

9.

Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency.

Yubero D, O'Callaghan M, Montero R, Ormazabal A, Armstrong J, Espinos C, Rodríguez MA, Jou C, Castejon E, Aracil MA, Cascajo MV, Gavilan A, Briones P, Jimenez-Mallebrera C, Pineda M, Navas P, Artuch R.

BMC Pediatr. 2014 Nov 8;14:284. doi: 10.1186/s12887-014-0284-5.

10.

Myopathy in hereditary leiomyomatosis and renal cell cancer in an extended family.

España A, Ornilla E, Zarate R, Gil-Bazo I, Briones P.

Br J Dermatol. 2015;172(5):1442-5. doi: 10.1111/bjd.13504. Epub 2015 Mar 11. No abstract available.

PMID:
25354562
11.

The impact of arteriovenous fistulae on the myocardium: the impact of creation and ligation in the transplant era.

Duque JC, Gomez C, Tabbara M, Alfonso CE, Li X, Vazquez-Padron RI, Asif A, Lenz O, Briones PL, Salman LH.

Semin Dial. 2015 May-Jun;28(3):305-10. doi: 10.1111/sdi.12313. Epub 2014 Sep 30. Review.

PMID:
25267110
12.

Expanding the clinical phenotypes of MT-ATP6 mutations.

López-Gallardo E, Emperador S, Solano A, Llobet L, Martín-Navarro A, López-Pérez MJ, Briones P, Pineda M, Artuch R, Barraquer E, Jericó I, Ruiz-Pesini E, Montoya J.

Hum Mol Genet. 2014 Dec 1;23(23):6191-200. doi: 10.1093/hmg/ddu339. Epub 2014 Jun 30.

PMID:
24986921
13.

Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes.

Tort F, Ferrer-Cortès X, Thió M, Navarro-Sastre A, Matalonga L, Quintana E, Bujan N, Arias A, García-Villoria J, Acquaviva C, Vianey-Saban C, Artuch R, García-Cazorla À, Briones P, Ribes A.

Hum Mol Genet. 2014 Apr 1;23(7):1907-15. doi: 10.1093/hmg/ddt585. Epub 2013 Nov 20.

PMID:
24256811
14.

Characterization of CoQ₁₀ biosynthesis in fibroblasts of patients with primary and secondary CoQ₁₀ deficiency.

Buján N, Arias A, Montero R, García-Villoria J, Lissens W, Seneca S, Espinós C, Navas P, De Meirleir L, Artuch R, Briones P, Ribes A.

J Inherit Metab Dis. 2014 Jan;37(1):53-62. doi: 10.1007/s10545-013-9620-4. Epub 2013 Jun 18.

PMID:
23774949
15.

Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria.

Tort F, García-Silva MT, Ferrer-Cortès X, Navarro-Sastre A, Garcia-Villoria J, Coll MJ, Vidal E, Jiménez-Almazán J, Dopazo J, Briones P, Elpeleg O, Ribes A.

Mol Genet Metab. 2013 Sep-Oct;110(1-2):73-7. doi: 10.1016/j.ymgme.2013.04.021. Epub 2013 May 3.

PMID:
23707711
16.

Effect of resveratrol on cultured skin fibroblasts from patients with oxidative phosphorylation defects.

De Paepe B, Vandemeulebroecke K, Smet J, Vanlander A, Seneca S, Lissens W, Van Hove JL, Deschepper E, Briones P, Van Coster R.

Phytother Res. 2014 Feb;28(2):312-6. doi: 10.1002/ptr.4988. Epub 2013 Apr 26.

PMID:
23620374
17.

Coenzyme Q₁₀ deficiency in mitochondrial DNA depletion syndromes.

Montero R, Grazina M, López-Gallardo E, Montoya J, Briones P, Navarro-Sastre A, Land JM, Hargreaves IP, Artuch R; Coenzyme Q₁₀ Deficiency Study Group.

Mitochondrion. 2013 Jul;13(4):337-41. doi: 10.1016/j.mito.2013.04.001. Epub 2013 Apr 11.

PMID:
23583954
18.

Survival transcriptome in the coenzyme Q10 deficiency syndrome is acquired by epigenetic modifications: a modelling study for human coenzyme Q10 deficiencies.

Fernández-Ayala DJ, Guerra I, Jiménez-Gancedo S, Cascajo MV, Gavilán A, Dimauro S, Hirano M, Briones P, Artuch R, De Cabo R, Salviati L, Navas P.

BMJ Open. 2013 Mar 25;3(3). pii: e002524. doi: 10.1136/bmjopen-2012-002524.

19.

Role of creatine as biomarker of mitochondrial diseases.

Pajares S, Arias A, García-Villoria J, Briones P, Ribes A.

Mol Genet Metab. 2013 Feb;108(2):119-24. doi: 10.1016/j.ymgme.2012.11.283. Epub 2012 Dec 3.

PMID:
23313063
20.

Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease.

Ferrer-Cortès X, Font A, Bujan N, Navarro-Sastre A, Matalonga L, Arranz JA, Riudor E, del Toro M, Garcia-Cazorla A, Campistol J, Briones P, Ribes A, Tort F.

J Inherit Metab Dis. 2013 Sep;36(5):841-7. doi: 10.1007/s10545-012-9565-z. Epub 2012 Nov 22.

PMID:
23179554
21.

Analysis of coenzyme Q(10) in lymphocytes by HPLC-MS/MS.

Arias A, García-Villoria J, Rojo A, Buján N, Briones P, Ribes A.

J Chromatogr B Analyt Technol Biomed Life Sci. 2012 Nov 1;908:23-6. doi: 10.1016/j.jchromb.2012.09.027. Epub 2012 Sep 20.

PMID:
23122397
22.

Performance of rest myocardial perfusion imaging in the management of acute chest pain in the emergency room in developing nations (PREMIER trial).

Better N, Karthikeyan G, Vitola J, Fatima A, Peix A, Novak MD, Soares J Jr, Bien VD, Briones PO, Vangu M, Soni N, Nguyen A, Dondi M.

J Nucl Cardiol. 2012 Dec;19(6):1146-53. doi: 10.1007/s12350-012-9622-x. Epub 2012 Oct 12.

PMID:
23065415
23.

Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients.

Navarro-Sastre A, Tort F, Garcia-Villoria J, Pons MR, Nascimento A, Colomer J, Campistol J, Yoldi ME, López-Gallardo E, Montoya J, Unceta M, Martinez MJ, Briones P, Ribes A.

Mol Genet Metab. 2012 Nov;107(3):409-15. doi: 10.1016/j.ymgme.2012.08.018. Epub 2012 Aug 31.

PMID:
22980518
24.

New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset.

del Mar O'Callaghan M, Emperador S, López-Gallardo E, Jou C, Buján N, Montero R, Garcia-Cazorla A, Gonzaga D, Ferrer I, Briones P, Ruiz-Pesini E, Pineda M, Artuch R, Montoya J.

Neurogenetics. 2012 Aug;13(3):245-50. doi: 10.1007/s10048-012-0322-0. Epub 2012 May 26.

PMID:
22638997
25.

A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins.

Navarro-Sastre A, Tort F, Stehling O, Uzarska MA, Arranz JA, Del Toro M, Labayru MT, Landa J, Font A, Garcia-Villoria J, Merinero B, Ugarte M, Gutierrez-Solana LG, Campistol J, Garcia-Cazorla A, Vaquerizo J, Riudor E, Briones P, Elpeleg O, Ribes A, Lill R.

Am J Hum Genet. 2011 Nov 11;89(5):656-67. doi: 10.1016/j.ajhg.2011.10.005.

26.

Mild clinical and biochemical phenotype in two patients with PMM2-CDG (congenital disorder of glycosylation Ia).

Casado M, O'Callaghan MM, Montero R, Pérez-Cerda C, Pérez B, Briones P, Quintana E, Muchart J, Aracil A, Pineda M, Artuch R.

Cerebellum. 2012 Jun;11(2):557-63. doi: 10.1007/s12311-011-0313-y.

PMID:
22012410
27.

Fibroblast growth factor 23 in patients undergoing peritoneal dialysis.

Isakova T, Xie H, Barchi-Chung A, Vargas G, Sowden N, Houston J, Wahl P, Lundquist A, Epstein M, Smith K, Contreras G, Ortega L, Lenz O, Briones P, Egbert P, Ikizler TA, Jueppner H, Wolf M.

Clin J Am Soc Nephrol. 2011 Nov;6(11):2688-95. doi: 10.2215/CJN.04290511. Epub 2011 Sep 8.

28.

Screening for nuclear genetic defects in the ATP synthase-associated genes TMEM70, ATP12 and ATP5E in patients with 3-methylglutaconic aciduria.

Tort F, Del Toro M, Lissens W, Montoya J, Fernàndez-Burriel M, Font A, Buján N, Navarro-Sastre A, López-Gallardo E, Arranz JA, Riudor E, Briones P, Ribes A.

Clin Genet. 2011 Sep;80(3):297-300. doi: 10.1111/j.1399-0004.2011.01650.x. No abstract available.

PMID:
21815885
29.

Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations.

Vega AI, Pérez-Cerdá C, Abia D, Gámez A, Briones P, Artuch R, Desviat LR, Ugarte M, Pérez B.

J Inherit Metab Dis. 2011 Aug;34(4):929-39. doi: 10.1007/s10545-011-9328-2. Epub 2011 May 4.

PMID:
21541725
30.

Autism associated to a deficiency of complexes III and IV of the mitochondrial respiratory chain.

Guevara-Campos J, González-Guevara L, Briones P, López-Gallardo E, Bulán N, Ruiz-Pesini E, Ramnarine D, Montoya J.

Invest Clin. 2010 Sep;51(3):423-31.

PMID:
21302592
31.

Quantitative Analysis of mtDNA Content in Formalin-Fixed Paraffin-Embedded Muscle Tissue.

Font A, Tort F, Navarro-Sastre A, Cusí V, García-Villoria J, Briones P, Ribes A.

JIMD Rep. 2011;1:125-9. doi: 10.1007/8904_2011_27. Epub 2011 Jun 22.

32.

The molecular landscape of phosphomannose mutase deficiency in iberian peninsula: identification of 15 population-specific mutations.

Pérez B, Briones P, Quelhas D, Artuch R, Vega AI, Quintana E, Gort L, Ecay MJ, Matthijs G, Ugarte M, Pérez-Cerdá C.

JIMD Rep. 2011;1:117-23. doi: 10.1007/8904_2011_26. Epub 2011 Jun 22.

33.

X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17β-hydroxysteroid dehydrogenase 10 deficiency.

García-Villoria J, Gort L, Madrigal I, Fons C, Fernández C, Navarro-Sastre A, Milà M, Briones P, García-Cazorla A, Campistol J, Ribes A.

Eur J Hum Genet. 2010 Dec;18(12):1353-5. doi: 10.1038/ejhg.2010.118. Epub 2010 Jul 28.

34.

Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain.

Quintana E, Pineda M, Font A, Vilaseca MA, Tort F, Ribes A, Briones P.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S315-9. doi: 10.1007/s10545-010-9169-4. Epub 2010 Jul 21.

PMID:
20652410
35.

Coenzyme Q(10)-responsive ataxia: 2-year-treatment follow-up.

Pineda M, Montero R, Aracil A, O'Callaghan MM, Mas A, Espinos C, Martinez-Rubio D, Palau F, Navas P, Briones P, Artuch R.

Mov Disord. 2010 Jul 15;25(9):1262-8. doi: 10.1002/mds.23129.

PMID:
20629161
36.

Functional splicing assay supporting that c.70 + 5G > A mutation in the MPV17 gene is disease causing.

Navarro-Sastre A, García-Silva MT, Martín-Hernández E, Lluch M, Briones P, Ribes A.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S293-6. doi: 10.1007/s10545-010-9155-x. Epub 2010 Jul 8.

PMID:
20614188
37.

Hearing loss in a patient with the myopathic form of mitochondrial DNA depletion syndrome and a novel mutation in the TK2 gene.

Martí R, Nascimento A, Colomer J, Lara MC, López-Gallardo E, Ruiz-Pesini E, Montoya J, Andreu AL, Briones P, Pineda M.

Pediatr Res. 2010 Aug;68(2):151-4. doi: 10.1203/00006450-201011001-00294. Erratum in: Pediatr Res. 2010 Nov;68(5):451.

PMID:
20421844
38.

Kearns-Sayre syndrome: cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features.

Serrano M, García-Silva MT, Martin-Hernandez E, O'Callaghan Mdel M, Quijada P, Martinez-Aragón A, Ormazábal A, Blázquez A, Martín MA, Briones P, López-Gallardo E, Ruiz-Pesini E, Montoya J, Artuch R, Pineda M.

Mitochondrion. 2010 Aug;10(5):429-32. doi: 10.1016/j.mito.2010.04.001. Epub 2010 Apr 11.

PMID:
20388557
39.

Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency.

Quintana E, Gort L, Busquets C, Navarro-Sastre A, Lissens W, Moliner S, Lluch M, Vilaseca MA, De Meirleir L, Ribes A, Briones P; PDH Working Group.

Clin Genet. 2010 May;77(5):474-82. doi: 10.1111/j.1399-0004.2009.01313.x. Epub 2009 Dec 10. Erratum in: Clin Genet. 2010 Jul;78(1):101.

PMID:
20002461
40.

PDH E1β deficiency with novel mutations in two patients with Leigh syndrome.

Quintana E, Mayr JA, García Silva MT, Font A, Tortoledo MA, Moliner S, Ozaez L, Lluch M, Cabello A, Ricoy JR, Koch J, Ribes A, Sperl W, Briones P.

J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S339-43. doi: 10.1007/s10545-009-1343-1. Epub 2009 Nov 9.

PMID:
19924563
41.

Secondary disorders of glycosylation in inborn errors of fructose metabolism.

Quintana E, Sturiale L, Montero R, Andrade F, Fernandez C, Couce ML, Barone R, Aldamiz-Echevarria L, Ribes A, Artuch R, Briones P.

J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S273-8. doi: 10.1007/s10545-009-1219-4. Epub 2009 Sep 20.

PMID:
19768653
42.

Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC).

Richard E, Jorge-Finnigan A, Garcia-Villoria J, Merinero B, Desviat LR, Gort L, Briones P, Leal F, Pérez-Cerdá C, Ribes A, Ugarte M, Pérez B; MMACHC Working Group.

Hum Mutat. 2009 Nov;30(11):1558-66. doi: 10.1002/humu.21107.

PMID:
19760748
43.

Neuropsychiatric manifestations in late-onset urea cycle disorder patients.

Serrano M, Martins C, Pérez-Dueñas B, Gómez-López L, Murgui E, Fons C, García-Cazorla A, Artuch R, Jara F, Arranz JA, Häberle J, Briones P, Campistol J, Pineda M, Vilaseca MA.

J Child Neurol. 2010 Mar;25(3):352-8. doi: 10.1177/0883073809340696. Epub 2009 Aug 14.

PMID:
19684305
44.

[Infection-triggered familial or recurrent acute necrotizing encephalopathy].

López-Laso E, Mateos-González ME, Pérez-Navero JL, Camino-León R, Briones P, Neilson DE.

An Pediatr (Barc). 2009 Sep;71(3):235-9. doi: 10.1016/j.anpedi.2009.05.020. Epub 2009 Jul 29. Spanish.

45.

The role of human demographic history in determining the distribution and frequency of transferase-deficient galactosaemia mutations.

Flanagan JM, McMahon G, Brendan Chia SH, Fitzpatrick P, Tighe O, O'Neill C, Briones P, Gort L, Kozak L, Magee A, Naughten E, Radomyska B, Schwartz M, Shin JS, Strobl WM, Tyfield LA, Waterham HR, Russell H, Bertorelle G, Reichardt JK, Mayne PD, Croke DT.

Heredity (Edinb). 2010 Feb;104(2):148-54. doi: 10.1038/hdy.2009.84. Epub 2009 Jul 29.

46.

Comparison between high performance liquid chromatography and capillary zone electrophoresis for the diagnosis of congenital disorders of glycosylation.

Quintana E, Montero R, Casado M, Navarro-Sastre A, Vilaseca MA, Briones P, Artuch R.

J Chromatogr B Analyt Technol Biomed Life Sci. 2009 Aug 15;877(24):2513-8. doi: 10.1016/j.jchromb.2009.06.031. Epub 2009 Jun 30.

PMID:
19608465
47.

Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in the BCS1L gene.

Ramos-Arroyo MA, Hualde J, Ayechu A, De Meirleir L, Seneca S, Nadal N, Briones P.

Clin Genet. 2009 Jun;75(6):585-7. doi: 10.1111/j.1399-0004.2009.01160.x. No abstract available.

PMID:
19508421
48.

An update on the molecular analysis of classical galactosaemia patients diagnosed in Spain and Portugal: 7 new mutations in 17 new families.

Gort L, Quintana E, Moliner S, González-Quereda L, López-Hernández T, Briones P.

Med Clin (Barc). 2009 May 16;132(18):709-11. doi: 10.1016/j.medcli.2008.11.031. Epub 2009 Apr 16.

PMID:
19375122
49.

FATP1 localizes to mitochondria and enhances pyruvate dehydrogenase activity in skeletal myotubes.

Guitart M, Andreu AL, García-Arumi E, Briones P, Quintana E, Gómez-Foix AM, García-Martínez C.

Mitochondrion. 2009 Jul;9(4):266-72. doi: 10.1016/j.mito.2009.03.007. Epub 2009 Apr 8.

PMID:
19361580
50.

Screening for congenital disorders of glycosylation (CDG): transferrin HPLC versus isoelectric focusing (IEF).

Quintana E, Navarro-Sastre A, Hernández-Pérez JM, García-Villoria J, Montero R, Artuch R, Ribes A, Briones P.

Clin Biochem. 2009 Mar;42(4-5):408-15. doi: 10.1016/j.clinbiochem.2008.12.013. Epub 2008 Dec 31.

PMID:
19146845

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