Research

Neurogenetics and Molecular Medicine

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Publications

  • Bonnet C, Riahi Z, Chantot-Bastaraud S, Smagghe L, Letexier M, Marcaillou C, Lefèvre GM, Hardelin JP, El-Amraoui A, Singh-Estivalet A, Mohand-Saïd S, Kohl S, Kurtenbach A, Sliesoraityte I, Zobor D, Gherbi S, Testa F, Simonelli F, Banfi S, Fakin A, Glavac D, Jarc-Vidmar M, Zupan A, Battelino S, Martorell-Sampol L, Clavería MA, Català-Mora J, Dad S, Møller LB, Jesus Rodriguez Jorge, Hawlina M, Auricchio A, Sahel JA, Marlin S, Zrenner E, Audo I and Petit C.

    An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients

    EUROPEAN JOURNAL OF HUMAN GENETICS . 24(12): 1730-1738. Number of citations: 82

    [doi:10.1038/ejhg.2016.99]

  • Frasquet M, Chumillas MJ, Vílchez JJ, Márquez-Infante C, Palau F, Vázquez-Costa JF, Lupo V, Espinós C and Sevilla T.

    Phenotype and natural history of inherited neuropathies caused by HSJ1 c.352+1G > A mutation

    JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY . 87(11): 1265-147. Number of citations: 13

    [doi:10.1136/jnnp-2015-312890]

  • Izquierdo-Renau M, Martinez-Monseny T, Pociello N, Gonzalez P, del Río-Florentino R, Iriondo-Sanz M and Iglesias-Platas I.

    Changes in Parenteral Nutrition During the First Week of Life Influence Early but Not Late Postnatal Growth in Very Low-Birth-Weight Infants

    NUTRITION IN CLINICAL PRACTICE . 31(5): 666-672. Number of citations: 8

    [doi:10.1177/0884533616649582]

  • Fernández-Torrón R, García-Puga M, Emparanza JI, Maneiro M, Cobo AM, Poza JJ, Espinal JB, Zulaica M, Ruiz I, Martorell-Sampol L, Otaegui D, Matheu A and López de Munain A.

    Cancer risk in DM1 is sex-related and linked to miRNA-200/141 downregulation

    Neurology . 87(12): 1250-1257. Number of citations: 40

    [doi:10.1212/WNL.0000000000003124]

  • Margarit Soler A, Martínez-Sánchez L, Martinez-Monseny T, Trenchs-Sainz de la Maza V, Picouto MD, Villar F and Luaces-Cubells C.

    Epidemiological characteristics in suicidal adolescents seen in the Emergency Department

    ANALES DE PEDIATRIA . 85(1): 13-17. Number of citations: 6

    [doi:10.1016/j.anpedi.2015.04.022]

  • Mollá B, Riveiro F, Bolinches-Amorós A, Muñoz-Lasso DC, Palau F and González-Cabo P.

    Two different pathogenic mechanisms, dying-back axonal neuropathy and pancreatic senescence, are present in the YG8R mouse model of Friedreich's ataxia

    DISEASE MODELS & MECHANISMS . 9(6): 647-657. Number of citations: 14

    [doi:10.1242/dmm.024273]

  • Yubero-Siles D, Brandi-Tarrau N, Ormazabal-Herrero A, Garcia-Cazorla A, Pérez-Dueñas B, Campistol-Plana J, Ribes A, Palau F, Artuch-Iriberri R, Armstrong-Moron J and Working Group.

    Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism

    PLoS One . 11(5): . Number of citations: 40

    [doi:10.1371/journal.pone.0156359]

  • Ponce G, Quiñones-Lombraña A, Martín-Palanco NG, Rubio-Solsona E, Jiménez-Arriero MÁ, Palomo T and Hoenicka J.

    The Addiction-Related Gene Ankk1 is Oppositely Regulated by D1R-and D2R-Like Dopamine Receptors

    NEUROTOXICITY RESEARCH . 29(3): 345-350. Number of citations: 16

    [doi:10.1007/s12640-015-9545-9]

  • Sáez MA, Fernández-Rodríguez J, Moutinho C, Sanchez-Mut JV, Gomez A, Vidal E, Petazzi P, Szczesna K, Lopez-Serra P, Lucariello M, Lorden P, Delgado-Morales R, de la Caridad OJ, Huertas D, Gelpí JL, Orozco M, López-Doriga A, Milà M, Perez-Jurado LA, Pineda M, Armstrong-Moron J, Lázaro C and Esteller M.

    Mutations in JMJD1C are involved in Rett syndrome and intellectual disability.

    GENETICS IN MEDICINE . 18(4): 378-385. Number of citations: 36

    [doi:10.1038/gim.2015.100]

  • Sevilla T, Lupo V, Martínez-Rubio D, Sancho P, Sivera R, Chumillas MJ, García-Romero M, Pascual-Pascual SI, Muelas N, Dopazo J, Vílchez JJ, Palau F and Espinós C.

    Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease

    BRAIN . 139: 62-72. Number of citations: 74

    [doi:10.1093/brain/awv311]