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Neurogenètica i Medicina Molecular

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Publicacions

  • González-Sánchez P, Pla-Martín D, Martínez-Valero P, Rueda CB, Calpena E, Del Arco A, Palau F and Satrústegui J.

    CMT-linked loss-of-function mutations in GDAP1 impair store-operated Ca(2+) entry-stimulated respiration.

    SCIENTIFIC REPORTS . 7: 42993-42993. Nº de cites: 28

    [doi:10.1038/srep42993]

  • Hortigüela M, Fernández-Marmiesse A, Cantarín V, Gouveia S, García-Peñas JJ, Fons-Estupina C, Armstrong-Moron J, Barrios D, Díaz-Flores F, Tirado P, Couce ML and Gutiérrez-Solana LG.

    Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations

    JOURNAL OF HUMAN GENETICS . 62(2): 185-189. Nº de cites: 19

    [doi:10.1038/jhg.2016.104]

  • Matalonga L, Bravo M, Serra-Peinado C, García-Pelegrí E, Ugarteburu O, Vidal-Falcó S, Llambrich M, Quintana E, Fuster-Jorge P, Gonzalez-Bravo MN, Beltran S, Dopazo J, García-García F, Foulquier F, Matthijs G, Mills P, Ribes A, Egea G, Briones P, Tort F and Girós M.

    Mutations in TRAPPC11 are associated with a congenital disorder of glycosylation

    HUMAN MUTATION . 38(2): 148-151. Nº de cites: 25

    [doi:10.1002/humu.23145]

  • Casas-Alba D, Martinez-Monseny T, Monfort L, Munoz-Almagro C, Cabrerizo M, Deyà-Martinez A and Launes-Montana C.

    EXTREME HYPERFERRITINEMIA IN DIZYGOTIC TWINS WITH HUMAN PARECHOVIRUS-3 INFECTION

    PEDIATRIC INFECTIOUS DISEASE JOURNAL . 35(12): 1366-1368. Nº de cites: 6

    [doi:10.1097/INF.0000000000001333]

  • Lucariello M, Vidal E, Vidal-Falcó S, Saez M, Roa L, Huertas D, Pineda M, Dalfó E, Dopazo J, Jurado P, Armstrong-Moron J and Esteller M.

    Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype

    HUMAN GENETICS . 135(12): 1343-1354. Nº de cites: 52

    [doi:10.1007/s00439-016-1721-3]

  • 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. Nº de cites: 67

    [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. Nº de cites: 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. Nº de cites: 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. Nº de cites: 37

    [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. Nº de cites: 4

    [doi:10.1016/j.anpedi.2015.04.022]