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Metabolòmica i genètica bioquímica

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Publicacions

  • Ortigoza-Escobar JD.

    A Proposed Diagnostic Algorithm for Inborn Errors of Metabolism Presenting With Movements Disorders.

    FRONTIERS IN NEUROLOGY . 11: 582160-582160. Nº de cites: 11

    [doi:10.3389/fneur.2020.582160]

  • Juárez-Flores DL, Ezquerra M, Gonzàlez-Casacuberta Ï, Ormazabal-Herrero A, Morén C, Tolosa E, Fucho R, Guitart-Mampel M, Casado-Rio M, Valldeoriola F, de la Torre-Lara J, Muñoz E, Tobías E, Compta Y, García-García FJ, García-Ruiz C, Fernandez-Checa JC, Martí MJ, Grau JM, Cardellach F, Artuch-Iriberri R, Fernández-Santiago R and Garrabou G.

    Disrupted Mitochondrial and Metabolic Plasticity Underlie Comorbidity between Age-Related and Degenerative Disorders as Parkinson Disease and Type 2 Diabetes Mellitus

    ANTIOXIDANTS . 9(11): . Nº de cites: 7

    [doi:10.3390/antiox9111063]

  • Gámez A, Serrano M, Gallego D, Vilas A and Pérez-Dueñas B.

    New and potential strategies for the treatment of PMM2-CDG.

    BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS . 1864(11): 129686-129686. Nº de cites: 21

    [doi:10.1016/j.bbagen.2020.129686]

  • Molero M, Casas-Alba D, Orellana G, Ormazabal-Herrero A, Sierra-March C, Oliva C, Valls-Lafon A, Velasco J, Launes-Montana C, Cuadras-Palleja D, Pérez-Dueñas B, Jordán-García I, Cambra-Lasaosa FJ, Ortigoza-Escobar JD, Munoz-Almagro C, Garcia-Cazorla A, Armangue-Salvador T and Artuch-Iriberri R.

    Cerebrospinal fluid neopterin as a biomarker of neuroinflammatory diseases

    SCIENTIFIC REPORTS . 10(1): 18291-18291. Nº de cites: 31

    [doi:10.1038/s41598-020-75500-z]

  • Murillo-Cuesta S, Artuch-Iriberri R, Asensio F, de la Villa P, Dierssen M, Enríquez JA, Fillat C, Fourcade S, Ibáñez B, Montoliu L, Oliver E, Pujol A, Salido E, Vallejo M and Varela-Nieto I.

    The Value of Mouse Models of Rare Diseases: A Spanish Experience.

    Frontiers in Genetics . 11: 583932-583932. Nº de cites: 14

    [doi:10.3389/fgene.2020.583932]

  • López-Gálvez R, de la Morena-Barrio ME, López-Lera A, Pathak M, Miñano A, Serrano M, Borgel D, Roldán V, Vicente V, Emsley J and Corral J.

    Factor XII in PMM2-CDG patients: role of N-glycosylation in the secretion and function of the first element of the contact pathway

    ORPHANET JOURNAL OF RARE DISEASES . 15(1): 280-280. Nº de cites: 9

    [doi:10.1186/s13023-020-01564-9]

  • Paredes-Fuentes AJ, Montero-Sanchez R, Codina-Bergadà A, Jou-Munoz C, Fernandez-Isern G, Maynou-Fernández J, Santos-Ocaña C, Riera J, Navas P, Drobnic F and Artuch-Iriberri R.

    Coenzyme Q10 Treatment Monitoring in Different Human Biological Samples

    ANTIOXIDANTS . 9(10): . Nº de cites: 13

    [doi:10.3390/antiox9100979]

  • Matalonga L, Laurie S, Papakonstantinou A, Piscia D, Mereu E, Bullich G, Thompson R, Horvath R, Pérez-Jurado L, Riess O, Gut I, van Ommen GJ, Lochmüller H, Beltran S and RD–Connect Genome-Phenome Analysis Platform and URD-Cat Data Contributors.

    Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity.

    JOURNAL OF MOLECULAR DIAGNOSTICS . 22(9): 1205-1215. Nº de cites: 13

    [doi:10.1016/j.jmoldx.2020.06.008]

  • Habbane M, Llobet L, Bayona-Bafaluy MP, Bárcena JE, Ceberio L, Gómez-Díaz C, Gort L, Artuch-Iriberri R, Montoya J and Ruiz-Pesini E.

    Leigh Syndrome in a Pedigree Harboring the m.1555A>G Mutation in the Mitochondrial 12S rRNA

    GENES . 11(9): . Nº de cites: 6

    [doi:10.3390/genes11091007]

  • Izquierdo-Serra M, Fernández-Fernández JM and Serrano M.

    RareCACNA1Amutations leading to congenital ataxia

    PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY . 472(7): 791-809. Nº de cites: 17

    [doi:10.1007/s00424-020-02396-z]