Personas / Equipo Humano

Laura Marti Sanchez

Buscador de publicaciones

Publicaciones

  • Pata S, Flores-Rojas K, Gil A, López-Laso E, Marti-Sanchez L, Baide-Mairena H, Pérez-Dueñas B and Gil-Campos M.

    Clinical improvements after treatment with a low-valine and low-fat diet in a pediatric patient with enoyl-CoA hydratase, short chain 1 (ECHS1) deficiency.

    ORPHANET JOURNAL OF RARE DISEASES . 17(1): 340-340. Nº de citas: 1

    [doi:10.1186/s13023-022-02468-6]

  • Baide-Mairena H, Marti-Sanchez L, Marcé-Grau A, Cazurro-Gutiérrez A, Sanchez-Montanez A, Delgado I, Moreno-Galdó A, Macaya-Ruiz A, García-Arumí E and Pérez-Dueñas B.

    Genetic diagnosis of basal ganglia disease in childhood.

    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . 64(6): 743-752.

    [doi:10.1111/dmcn.15125]

  • Picó S, Parras A, Santos-Galindo M, Pose-Utrilla J, Castro M, Fraga E, Hernández IH, Elorza A, Anta H, Wang N, Marti-Sanchez L, Belloc E, Garcia-Esparcia P, Garrido JJ, Ferrer I, Macías-García D, Mir P, Artuch-Iriberri R, Pérez B, Hernández F, Navarro P, López-Sendón JL, Iglesias T, Yang XW, Méndez R and Lucas JJ.

    CPEB alteration and aberrant transcriptome-polyadenylation lead to a treatable SLC19A3 deficiency in Huntington's disease

    SCIENCE TRANSLATIONAL MEDICINE . 13(613): . Nº de citas: 9

    [doi:10.1126/scitranslmed.abe7104]

  • Marti-Sanchez L, Baide-Mairena H, Marcé-Grau A, Pons R, Skouma A, López-Laso E, Sigatullina M, Rizzo C, Semeraro M, Martinelli D, Carrozzo R, Dionisi-Vici C, LUIS GONZÁLEZ GUTIÉRREZ-SOLANA, Correa-Vela M, Ortigoza-Escobar JD, Sánchez-Montañez Á, Vazquez É, Delgado I, Aguilera-Albesa S, Yoldi ME, Ribes A, Tort F, Pollini L, Galosi S, Leuzzi V, Tolve M, Pérez-Gay L, Aldamiz-Echevarría L, Del Toro M, Arranz A, Roelens F, Urreizti R, Artuch-Iriberri R, Alfons Macaya and Pérez-Dueñas B.

    Delineating the neurological phenotype in children with defects in theECHS1orHIBCHgene

    JOURNAL OF INHERITED METABOLIC DISEASE . 44(2): 401-414. Nº de citas: 24

    [doi:10.1002/jimd.12288]

  • Vanegas MI, Marcé-Grau A, Marti-Sanchez L, Mellid S, Baide-Mairena H, Correa-Vela M, Cazurro A, Rodríguez C, Toledo L, Fernández-Ramos JA, Pons R, Aguilera-Albesa S, Martí MJ, Eiris J, Iglesias G, De Fabregues O, Maqueda E, Garriz-Luis M, Madruga M, Espinós C, Macaya A, Cabrera JC and Pérez-Dueñas B.

    Delineating the motor phenotype of SGCE-myoclonus dystonia syndrome

    PARKINSONISM & RELATED DISORDERS . 80: 165-174. Nº de citas: 3

    [doi:10.1016/j.parkreldis.2020.09.023]

  • Batllori-Tragant M, Casado-Rio M, Sierra-March C, Salgado MDC, Marti-Sanchez L, Maynou-Fernández J, Fernandez-Isern G, Garcia-Cazorla A, Ormazabal-Herrero A, Molero M and Artuch-Iriberri R.

    Effect of blood contamination of cerebrospinal fluid on amino acids, biogenic amines, pterins and vitamins

    Fluids and Barriers of the CNS . 16(1): 34-34. Nº de citas: 7

    [doi:10.1186/s12987-019-0154-5]

  • Marcé-Grau A, Marti-Sanchez L, Baide-Mairena H, Ortigoza-Escobar JD and Pérez-Dueñas B.

    Genetic defects of thiamine transport and metabolism: A review of clinical phenotypes, genetics, and functional studies.

    JOURNAL OF INHERITED METABOLIC DISEASE . 42(4): 581-597. Nº de citas: 50

    [doi:10.1002/jimd.12125]

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

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

    MOLECULAR GENETICS AND METABOLISM . 126(3): 250-258. Nº de citas: 15

    [doi:10.1016/j.ymgme.2019.01.001]

  • Marti-Sanchez L, Ortigoza-Escobar JD, Darling A, Villaronga M, Baide H, Molero M, Batllori-Tragant M, Vanegas-Grisales MI, Muchart-Lopez J, Aquino L, Artuch-Iriberri R, Macaya A, Kurian MA and Pérez-Dueñas B.

    Hypermanganesemia due to mutations in SLC39A14: further insights into Mn deposition in the central nervous system

    ORPHANET JOURNAL OF RARE DISEASES . 13: 28-28. Nº de citas: 37

    [doi:10.1186/s13023-018-0758-x]

  • Darling A, Tello C, Martí MJ, Garrido C, Aguilera-Albesa S, Tomás Vila M, Gastón I, Madruga M, González Gutiérrez L, Ramos Lizana J, Pujol M, Gavilán Iglesias T, Tustin K, Lin JP, Zorzi G, Nardocci N, Martorell-Sampol L, Lorenzo Sanz G, Gutiérrez F, García PJ, Vela L, Hernández Lahoz C, Ortigoza-Escobar JD, Marti-Sanchez L, Moreira F, Coelho M, Correia Guedes L, Castro Caldas A, Ferreira J, Pires P, Costa C, Rego P, Magalhães M, Stamelou M, Cuadras-Palleja D, Rodríguez-Blazquez C, Martínez-Martín P, Lupo V, Stefanis L, Pons R, Espinós C, Temudo T and Pérez-Dueñas B.

    Clinical rating scale for pantothenate kinase-associated neurodegeneration: A pilot study.

    MOVEMENT DISORDERS . 32(11): 1620-1630. Nº de citas: 13

    [doi:10.1002/mds.27129]