Research

Neurogenetics and Molecular Medicine

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Publications

  • Soldevilla B, Cuevas-Martín C, Ibáñez C, Santacatterina F, Alberti MA, Simó C, Casasnovas C, Márquez-Infante C, Sevilla T, Pascual SI, Sánchez-Aragó M, Espinos C, Palau F and Cuezva JM.

    Plasma metabolome and skin proteins in Charcot-Marie-Tooth 1A patients.

    PLoS One . 12(6): . Number of citations: 13

    [doi:10.1371/journal.pone.0178376]

  • Casanova MA, Monteagudo-Sánchez A, Rodríguez-Guerineau L, Court F, Serrano IG, Martorell-Sampol L, Zurriaga CR, Moore GE, Ishida M, Castañón M, Calderon EM, Monk D and Moreno-Hernando J.

    Maternal mutations of FOXF1 cause alveolar capillary dysplasia despite not being imprinted.

    HUMAN MUTATION . 38(6): 615-620. Number of citations: 9

    [doi:10.1002/humu.23213]

  • Andrade-Campos M, Alfonso P, Irun P, Armstrong-Moron J, Calvo C, Dalmau J, Domingo MR, Barbera JL, Cano H, Fernandez-Galán MA, Franco R, Gracia I, Gracia-Antequera M, Ibañez A, Lendinez F, Madruga M, Martin-Hernández E, O'Callaghan-Gordo M, Del Soto AP, Del Prado YR, Sancho-Val I, Sanjurjo P, Pocovi M and Giraldo P.

    Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease.

    ORPHANET JOURNAL OF RARE DISEASES . 12(1): 84-84. Number of citations: 24

    [doi:10.1186/s13023-017-0627-z]

  • España-Serrano L, Guerra Martín-Palanco N, Montero-Pedrazuela A, Pérez-Santamarina E, Vidal R, García-Consuegra I, Valdizán EM, Pazos A, Palomo T, Jiménez-Arriero MÁ, Guadaño-Ferraz A and Hoenicka J.

    The Addiction-Related Protein ANKK1 is Differentially Expressed During the Cell Cycle in Neural Precursors

    CEREBRAL CORTEX . 27(5): 2809-2819. Number of citations: 10

    [doi:10.1093/cercor/bhw129]

  • Requena-Méndez A, Goñi P, Rubio E, Pou D, Fumadó V, Lóbez S, Aldasoro E, Cabezos J, Valls ME, Treviño B, Martinez-Monseny T, Clavel A, Gascon J and Muñoz J.

    The Use of Quinacrine in Nitroimidazole-resistant Giardia Duodenalis: An Old Drug for an Emerging Problem

    JOURNAL OF INFECTIOUS DISEASES . 215(6): 946-953. Number of citations: 33

    [doi:10.1093/infdis/jix066]

  • 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. Number of citations: 33

    [doi:10.1038/srep42993]

  • 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. Number of citations: 32

    [doi:10.1002/humu.23145]

  • 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. Number of citations: 22

    [doi:10.1038/jhg.2016.104]

  • 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. Number of citations: 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. Number of citations: 55

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