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Neurogenètica i Medicina Molecular

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Publicacions

  • Vilaseca M, Burgos-Fernandez FJ, Rey-Barroso L, Roldan-Molina M, Gassiot S, Sarrate E, Isola I and Ruiz-Llobet A.

    Hyperspectral imaging for skin cancer and blood disorders diagnosis.

    Asian Journal of Physics . 29(10-12): 1-20.

  • Cantarero-Abad L, Juárez-Escoto E, Civera-Tregon A, Rodriguez-Sanz, Maria, Roldan-Molina M, Benítez R, Hoenicka J and Palau F.

    Mitochondria-lysosome membrane contacts are defective in GDAP1-related Charcot-Marie-Tooth disease

    HUMAN MOLECULAR GENETICS . 29(22): 3589-3605. Nº de cites: 49

    [doi:10.1093/hmg/ddaa243]

  • 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 cites: 9

    [doi:10.1016/j.parkreldis.2020.09.023]

  • Callejas-Díaz B, Fernandez-Isern G, Fuentes M, Martínez-Antón A, Alobid I, Roca-Ferrer J, Picado C, Tubita V and Mullol J.

    Integrated mRNA and microRNA transcriptome profiling during differentiation of human nasal polyp epithelium reveals an altered ciliogenesis

    ALLERGY . 75(10): 2548-2561. Nº de cites: 25

    [doi:10.1111/all.14307]

  • Paredes-Fuentes AJ, Montero-Sanchez R, Codina-Bergadà A, Jou-Munoz C, Fernandez-Isern G, Maynou-Fernández J, Santos-Ocaña C, Riera J, Navas P, Drobnic F and Artuch-Iriberri R.

    Coenzyme Q10 Treatment Monitoring in Different Human Biological Samples

    ANTIOXIDANTS . 9(10): . Nº de cites: 13

    [doi:10.3390/antiox9100979]

  • Cristofoli F, Moss T, Moore HW, Devriendt K, Flanagan-Steet H, May M, Jones J, Roelens F, Fons-Estupina C, Fernández-López A, Martorell-Sampol L, Selicorni A, Maitz S, Vitiello G, Van der Hoeven G, Skinner SA, Bollen M, Vermeesch JR, Steet R and Van Esch H.

    De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity

    AMERICAN JOURNAL OF HUMAN GENETICS . 107(4): 753-762. Nº de cites: 30

    [doi:10.1016/j.ajhg.2020.08.015]

  • Dal-Ré R, Palau F, Guillén-Navarro E and Ayuso C.

    Participant-funded clinical trials on rare diseases

    ANALES DE PEDIATRIA . 93(4): . Nº de cites: 3

    [doi:10.1016/j.anpedi.2020.03.019]

  • Matalonga L, Laurie S, Papakonstantinou A, Piscia D, Mereu E, Bullich G, Thompson R, Horvath R, Pérez-Jurado L, Riess O, Gut I, van Ommen GJ, Lochmüller H, Beltran S and RD–Connect Genome-Phenome Analysis Platform and URD-Cat Data Contributors.

    Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity.

    JOURNAL OF MOLECULAR DIAGNOSTICS . 22(9): 1205-1215. Nº de cites: 16

    [doi:10.1016/j.jmoldx.2020.06.008]

  • Huerta-Ramos ME, Labad J, Cobo JV, Nuñez C, Creus M, García-Parés G, Cuadras-Palleja D, Franco J, Miquel E, Reyes JC, Marcó-García S, RALOPSYCAT Group and Usall J.

    Effects of raloxifene on cognition in postmenopausal women with schizophrenia: a 24-week double-blind, randomized, parallel, placebo-controlled trial.

    European archives of psychiatry and clinical neuroscience . 270(6): 729-737. Nº de cites: 17

    [doi:10.1007/s00406-019-01079-w]

  • Castillo H, Monterrubio C, Pascual-Pastó G, Gomez-Gonzalez S, Garcia-Dominguez DJ, Hontecillas-Prieto L, Resa-Parés C, Burgeño-Sandoval V, Paco-Mercader S, Gene-Olaciregui N, Vilà-Ubach M, Restrepo-Perdomo C, Cuadrado-Vilanova M, Balaguer-Lluna L, Pérez-Jaume S, Castañeda-Heredia A, Santa-María López V, Roldan-Molina M, Suñol M, de Alava E, Mora J, Lavarino C and Carcaboso AM.

    Treatment-driven selection of chemoresistant Ewing sarcoma tumors with limited drug distribution

    JOURNAL OF CONTROLLED RELEASE . 324: 440-449. Nº de cites: 7

    [doi:10.1016/j.jconrel.2020.05.032]