Investigación

Metabolómica y genética bioquímica

Buscador de publicaciones

Publicaciones

  • Panagiotakaki E, De Grandis E, Stagnaro M, Heinzen EL, Fons-Estupina C, Sisodiya S, de Vries B, Goubau C, Weckhuysen S, Kemlink D, Scheffer I, Lesca G, Rabilloud M, Klich A, Ramírez-Camacho A, Ulate-Campos A, Campistol-Plana J, Giannotta M, Moutard ML, Doummar D, Hubsch-Bonneaud C, Jaffer F, Cross H, Gurrieri F, Tiziano D, Nevsimalova S, Nicole S, Neville B, van den Maagdenberg AM, Mikati M, Goldstein DB, Vavassori R, Arzimanoglou A, Italian IBAHC Consortium, French AHC Consortium and International AHC Consortium.

    Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients

    ORPHANET JOURNAL OF RARE DISEASES . 10: 123-123. Nº de citas: 110

    [doi:10.1186/s13023-015-0335-5]

  • Campistol-Plana J.

    Neurological manifestations in metabolic diseases

    ARQUIVOS DE NEURO-PSIQUIATRIA . 73: 59-63.

  • Campistol-Plana J and Plecko B.

    Treatable newborn and infant seizures due to inborn errors of metabolism

    EPILEPTIC DISORDERS . 17(3): 229-242. Nº de citas: 31

    [doi:10.1684/epd.2015.0754]

  • Yubero-Siles D, Montero-Sanchez R, Armstrong-Moron J, Espinós C, Palau F, Santos-Ocaña C, Salviati L, Navas P and Artuch-Iriberri R.

    Molecular diagnosis of coenzyme Q10 deficiency

    EXPERT REVIEW OF MOLECULAR DIAGNOSTICS . 15(8): 1049-1059. Nº de citas: 13

    [doi:10.1586/14737159.2015.1062727]

  • Vallejo-Torres L, Castilla I, Couce ML, Pérez-Cerdá C, Martín-Hernández E, Pineda M, Campistol-Plana J, Arrospide A, Morris S and Serrano-Aguilar P.

    Cost-Effectiveness Analysis of a National Newborn Screening Program for Biotinidase Deficiency

    Pediatrics . 136(2): 424-432. Nº de citas: 13

    [doi:10.1542/peds.2014-3399]

  • Molero M, Serrano M, O'Callaghan-Gordo M, Sierra-March C, Pérez-Dueñas B, Garcia-Cazorla A and Artuch-Iriberri R.

    Clinical, etiological and therapeutic aspects of cerebral folate deficiency

    EXPERT REVIEW OF NEUROTHERAPEUTICS . 15(7): 793-802. Nº de citas: 20

    [doi:10.1586/14737175.2015.1055322]

  • O'Callaghan-Gordo M, Emperador S, Pineda M, López-Gallardo E, Montero-Sanchez R, Yubero-Siles D, Jou-Munoz C, Jimenez-Mallebrera C, Nascimento-Osorio A, Ferrer I, Garcia-Cazorla A, Ruiz-Pesini E, Montoya J and Artuch-Iriberri R.

    Mutation loads in different tissues from six pathogenic mtDNA point mutations

    Mitochondrion . 22: 17-22. Nº de citas: 13

    [doi:10.1016/j.mito.2015.03.001]

  • Reddy P, Ocampo A, Suzuki K, Luo J, Bacman SR, Williams SL, Sugawara A, Okamura D, Tsunekawa Y, Wu J, Lam D, Xiong X, Montserrat N, Esteban CR, Liu GH, Sancho-Martinez I, Manau D, Civico S, Cardellach F, O'Callaghan-Gordo M, Campistol-Plana J, Zhao H, Campistol JM, Moraes CT and Izpisua Belmonte JC.

    Selective Elimination of Mitochondrial Mutations in the Germline by Genome Editing

    Cell . 161(3): 459-469. Nº de citas: 215

    [doi:10.1016/j.cell.2015.03.051]

  • Brito S, Thompson K, Campistol-Plana J, Colomer J, Hardy S, Langping H, Fernández-Marmiesse A, Palacios L, Jou-Munoz C, Jimenez-Mallebrera C, Armstrong-Moron J, Montero-Sanchez R, Artuch-Iriberri R, Tischner C, Wenz T, McFarland R and Taylor R.

    Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations

    Frontiers in Genetics . 6: 102-102. Nº de citas: 17

    [doi:10.3389/fgene.2015.00102]

  • Tondo M, Casado-Rio M, O'Callaghan-Gordo M, Jordán-García I, Altimira-Queral L, Pérez-Dueñas B, García-Alix A, Garcia-Cazorla A, Ormazabal-Herrero A and Artuch-Iriberri R.

    Cerebrospinal Fluid Selenium Concentrations in Pediatric Patients with Neurologic Disorders

    Journal of Pediatric Biochemistry . 5(1): 15-20. Nº de citas: 3

    [doi:10.1055/s-0035-1554782]