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Items: 1 to 20 of 120

1.

Uridine Prevents Negative Effects of OXPHOS Xenobiotics on Dopaminergic Neuronal Differentiation.

Iglesias E, Bayona-Bafaluy MP, Pesini A, Garrido-Pérez N, Meade P, Gaudó P, Jiménez-Salvador I, Montoya J, Ruiz-Pesini E.

Cells. 2019 Nov 8;8(11). pii: E1407. doi: 10.3390/cells8111407.

2.

Mitochondrial m.13513G>A Point Mutation in ND5 in a 16-Year-Old Man with Leber Hereditary Optic Neuropathy Detected by Next-Generation Sequencing.

Vázquez-Justes D, Carreño-Gago L, García-Arumi E, Traveset A, Montoya J, Ruiz-Pesini E, López R, Brieva L.

J Pediatr Genet. 2019 Dec;8(4):231-234. doi: 10.1055/s-0039-1691812. Epub 2019 May 28.

PMID:
31687263
3.

Infectious stress triggers a POLG-related mitochondrial disease.

Gaudó P, Emperador S, Garrido-Pérez N, Ruiz-Pesini E, Yubero D, García-Cazorla A, Artuch R, Montoya J, Bayona-Bafaluy MP.

Neurogenetics. 2019 Oct 26. doi: 10.1007/s10048-019-00593-2. [Epub ahead of print]

PMID:
31655921
4.

A novel mutation in the mitochondrial MT-ND5 gene in a family with MELAS. The relevance of genetic analysis on targeted tissues.

Panadés-de Oliveira L, Montoya J, Emperador S, Ruiz-Pesini E, Jericó I, Arenas J, Hernández-Lain A, Blázquez A, Martín MÁ, Domínguez-González C.

Mitochondrion. 2019 Oct 19;50:14-18. doi: 10.1016/j.mito.2019.10.001. [Epub ahead of print]

PMID:
31639449
5.

Brain pyrimidine nucleotide synthesis and Alzheimer disease.

Pesini A, Iglesias E, Bayona-Bafaluy MP, Garrido-Pérez N, Meade P, Gaudó P, Jiménez-Salvador I, Andrés-Benito P, Montoya J, Ferrer I, Pesini P, Ruiz-Pesini E.

Aging (Albany NY). 2019 Sep 27;11(19):8433-8462. doi: 10.18632/aging.102328. Epub 2019 Sep 27.

6.

Ketogenic treatment reduces the percentage of a LHON heteroplasmic mutation and increases mtDNA amount of a LHON homoplasmic mutation.

Emperador S, López-Gallardo E, Hernández-Ainsa C, Habbane M, Montoya J, Bayona-Bafaluy MP, Ruiz-Pesini E.

Orphanet J Rare Dis. 2019 Jun 21;14(1):150. doi: 10.1186/s13023-019-1128-z.

7.

Oxidative phosphorylation inducers fight pathological angiogenesis.

Bayona-Bafaluy MP, Esteban O, Ascaso J, Montoya J, Ruiz-Pesini E.

Drug Discov Today. 2019 Sep;24(9):1731-1734. doi: 10.1016/j.drudis.2019.03.014. Epub 2019 Mar 14.

PMID:
30880173
8.

Plasma coenzyme Q10 status is impaired in selected genetic conditions.

Montero R, Yubero D, Salgado MC, González MJ, Campistol J, O'Callaghan MDM, Pineda M, Delgadillo V, Maynou J, Fernandez G, Montoya J, Ruiz-Pesini E, Meavilla S, Neergheen V, García-Cazorla A, Navas P, Hargreaves I, Artuch R.

Sci Rep. 2019 Jan 28;9(1):793. doi: 10.1038/s41598-018-37542-2.

9.

Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood.

Baide-Mairena H, Gaudó P, Marti-Sánchez L, Emperador S, Sánchez-Montanez A, Alonso-Luengo O, Correa M, Grau AM, Ortigoza-Escobar JD, Artuch R, Vázquez E, Del Toro M, Garrido-Pérez N, Ruiz-Pesini E, Montoya J, Bayona-Bafaluy MP, Pérez-Dueñas B.

Mol Genet Metab. 2019 Mar;126(3):250-258. doi: 10.1016/j.ymgme.2019.01.001. Epub 2019 Jan 5. Review.

PMID:
30642748
10.

Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease.

Jou C, Ortigoza-Escobar JD, O'Callaghan MM, Nascimento A, Darling A, Pias-Peleteiro L, Perez-Dueñas B, Pineda M, Codina A, Arjona C, Armstrong J, Palau F, Ribes A, Gort L, Tort F, Navas P, Ruiz-Pesini E, Emperador S, Lopez-Gallardo E, Bayona-Bafaluy P, Montero R, Jimenez-Mallebrera C, Garcia-Cazorla A, Montoya J, Yubero D, Artuch R.

J Clin Med. 2019 Jan 10;8(1). pii: E68. doi: 10.3390/jcm8010068.

11.

NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses.

Van Bergen NJ, Guo Y, Rankin J, Paczia N, Becker-Kettern J, Kremer LS, Pyle A, Conrotte JF, Ellaway C, Procopis P, Prelog K, Homfray T, Baptista J, Baple E, Wakeling M, Massey S, Kay DP, Shukla A, Girisha KM, Lewis LES, Santra S, Power R, Daubeney P, Montoya J, Ruiz-Pesini E, Kovacs-Nagy R, Pritsch M, Ahting U, Thorburn DR, Prokisch H, Taylor RW, Christodoulou J, Linster CL, Ellard S, Hakonarson H.

Brain. 2019 Jan 1;142(1):50-58. doi: 10.1093/brain/awy310.

PMID:
30576410
12.

Mitochondrial DNA copy number in affected and unaffected LHON mutation carriers.

Bianco A, Valletti A, Longo G, Bisceglia L, Montoya J, Emperador S, Guerriero S, Petruzzella V.

BMC Res Notes. 2018 Dec 20;11(1):911. doi: 10.1186/s13104-018-4025-y.

13.

Whole sequence of the mitochondrial DNA genome of Kearns Sayre Syndrome patients: Identification of deletions and variants.

Saldaña-Martínez A, Muñoz ML, Pérez-Ramírez G, Montiel-Sosa JF, Montoya J, Emperador S, Ruiz-Pesini E, Cuevas-Covarrubias S, López-Valdez J, Ramírez RG.

Gene. 2019 Mar 10;688:171-181. doi: 10.1016/j.gene.2018.11.085. Epub 2018 Dec 5.

PMID:
30528267
14.

Mutations of the mitochondrial carrier translocase channel subunit TIM22 cause early-onset mitochondrial myopathy.

Pacheu-Grau D, Callegari S, Emperador S, Thompson K, Aich A, Topol SE, Spencer EG, McFarland R, Ruiz-Pesini E, Torkamani A, Taylor RW, Montoya J, Rehling P.

Hum Mol Genet. 2018 Dec 1;27(23):4135-4144. doi: 10.1093/hmg/ddy305.

15.

Effect of mitochondrial haplogroups on ranibizumab response in neovascular age-related macular degeneration patients: a pilot study.

Esteban O, Ascaso FJ, Mateo J, Calvo T, Montoya J, Ruiz-Pesini E.

Acta Ophthalmol. 2019 Feb;97(1):e133-e134. doi: 10.1111/aos.13865. Epub 2018 Sep 10. No abstract available.

PMID:
30203451
16.

Food derived respiratory complex I inhibitors modify the effect of Leber hereditary optic neuropathy mutations.

López-Gallardo E, Emperador S, Hernández-Ainsa C, Montoya J, Bayona-Bafaluy MP, Ruiz-Pesini E.

Food Chem Toxicol. 2018 Oct;120:89-97. doi: 10.1016/j.fct.2018.07.014. Epub 2018 Jul 6.

PMID:
29991444
17.

Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience.

Batllori M, Molero-Luis M, Ormazabal A, Montero R, Sierra C, Ribes A, Montoya J, Ruiz-Pesini E, O'Callaghan M, Pias L, Nascimento A, Palau F, Armstrong J, Yubero D, Ortigoza-Escobar JD, García-Cazorla A, Artuch R.

J Inherit Metab Dis. 2018 Nov;41(6):1147-1158. doi: 10.1007/s10545-018-0224-x. Epub 2018 Jul 4.

PMID:
29974349
18.

Prenatal exposure to oxidative phosphorylation xenobiotics and late-onset Parkinson disease.

Iglesias E, Pesini A, Garrido-Pérez N, Meade P, Bayona-Bafaluy MP, Montoya J, Ruiz-Pesini E.

Ageing Res Rev. 2018 Aug;45:24-32. doi: 10.1016/j.arr.2018.04.006. Epub 2018 Apr 22. Review.

PMID:
29689408
19.

Retrospective natural history of thymidine kinase 2 deficiency.

Garone C, Taylor RW, Nascimento A, Poulton J, Fratter C, Domínguez-González C, Evans JC, Loos M, Isohanni P, Suomalainen A, Ram D, Hughes MI, McFarland R, Barca E, Lopez Gomez C, Jayawant S, Thomas ND, Manzur AY, Kleinsteuber K, Martin MA, Kerr T, Gorman GS, Sommerville EW, Chinnery PF, Hofer M, Karch C, Ralph J, Cámara Y, Madruga-Garrido M, Domínguez-Carral J, Ortez C, Emperador S, Montoya J, Chakrapani A, Kriger JF, Schoenaker R, Levin B, Thompson JLP, Long Y, Rahman S, Donati MA, DiMauro S, Hirano M.

J Med Genet. 2018 Aug;55(8):515-521. doi: 10.1136/jmedgenet-2017-105012. Epub 2018 Mar 30.

20.

Gamma-aminobutyric acid levels in cerebrospinal fluid in neuropaediatric disorders.

Cortès-Saladelafont E, Molero-Luis M, Cuadras D, Casado M, Armstrong-Morón J, Yubero D, Montoya J, Artuch R, García-Cazorla À; Institut De Recerca Sant Joan De Déu Working Group.

Dev Med Child Neurol. 2018 Aug;60(8):780-792. doi: 10.1111/dmcn.13746. Epub 2018 Mar 25.

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