People / Staff

Laura Marti Sanchez

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Publications

  • Ortigoza-Escobar JD, Marti-Sanchez L, Martorell-Sampol L, Dinoi G, Buono AV, De Luca A, Liantonio A and Imbrici P.

    A Novel KCNA1 Variant in a Patient With Tremor and Autism Spectrum Disorder Causes Mixed LOF/GOF Defects of Kv1.1 Channels.

    Annals of Clinical and Translational Neurology . 13(10): 2166-2171.

    [doi:10.1002/acn3.70536]

  • González de Aledo-Castillo JM, Casado-Rio M, Pajares S, Meavilla-Olivas SM, Gort L, Marti-Sanchez L, Paredes-Fuentes AJ, Pias-Peleteiro LD, Gómez-Chiari M, Quintana Vidaurri M, López-Galera RM, Argudo-Ramírez A, Sainz de Medrano J, Artuch-Iriberri R, García-Villoria J and Ormazabal-Herrero A.

    Classical Homocystinuria Incidentally Diagnosed Following a Normal Newborn Screening Result.

    International Journal of Neonatal Screening . 12(3): .

    [doi:10.3390/ijns12030073]

  • Barco N, Yubero-Siles D, Xiol-Viñas C, Catasús N, Marti-Sanchez L, Armstrong-Moron J, Palau F and Fernandez-Isern G.

    Identification of autosomal and sex chromosome aneuploidies using next generation sequencing

    BIOINFORMATICS . 42(3): . Number of citations: 1

    [doi:10.1093/bioinformatics/btag104]

  • Brufau-Cochs M, Deyà-Martinez A, Vukov MÁ, Marti-Sanchez L, Fortuny-Guasch C and Baselga E.

    Severe Oral Lichen Planus Masking a Primary Immunodeficiency: X-Linked Lymphoproliferative Disease Type 1 (XLP-1)

    PEDIATRIC DERMATOLOGY . 43(1): 171-173. Number of citations: 1

    [doi:10.1111/pde.70025]

  • Chinigioli M, Marti-Sanchez L, Yubero-Siles D, Xiol-Viñas C, Olival J, Alcalá-San Martin A, Hernando-Davalillo C, Martorell-Sampol L, Armstrong-Moron J, Schteinschnaider Á and Ortigoza-Escobar JD.

    Diagnostic value of genetic testing, with focus on CACNA1A, in children with episodic neurologic disorders: a single-centre retrospective study.

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 60: 50-57. Number of citations: 1

    [doi:10.1016/j.ejpn.2025.11.005]

  • Marina Caballero Bellón, Santa-María López V, Marti-Sanchez L, Martorell-Sampol L, Salinas D, Hinojosa J, Becerra MV, Pavon-Mengual M, Morales-La Madrid A, Cruz-Martínez O, Muchart-Lopez J and Salvador-Hernandez H.

    Very early-onset symptomatic CNS haemangioblastoma in Von Hippel-Lindau disease

    JOURNAL OF MEDICAL GENETICS . 62(6): 409-412.

    [doi:10.1136/jmg-2024-110477]

  • Salvador, L, del Valle, J, Dorca, E, Chong, AS, Chong, AL, Valenzuela, JC, Munté, E, Rioja, C, Marti-Sanchez L, Salinas, M, Darder, E, Fabian, MR, Brunet, J, Salvador-Hernandez H, Lázaro, C and Rivera, B.

    DICER1 in pediatric and adult cancer predisposition populations: Prevalence, phenotypes, and mosaicism

    GENETICS IN MEDICINE . 27(5): 101385-101385. Number of citations: 7

    [doi:10.1016/j.gim.2025.101385]

  • 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. Number of citations: 11

    [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. Number of citations: 2

    [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): . Number of citations: 22

    [doi:10.1126/scitranslmed.abe7104]