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Neurogenètica i Medicina Molecular

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Publicacions

  • Pijuan-Marquilles J, Rodríguez-Sanz M, Natera-de Benito D, Ortez-Gonzalez CI, Altimir A, Osuna-Lopez M, Roura-Llerda M, Ugalde M, Van de Vondel L, Reina-Castillon J, Fons-Estupina C, Benítez R, Nascimento-Osorio A, Hoenicka J and Palau F.

    Translational Diagnostics An In-House Pipeline to Validate Genetic Variants in Children with Undiagnosed and Rare Diseases

    JOURNAL OF MOLECULAR DIAGNOSTICS . 23(1): 71-90. Nº de cites: 6

    [doi:10.1016/j.jmoldx.2020.10.006]

  • Casas-Alba D, López-Sala L, Pérez M, Marí-Vico R, Bolasell M, Martinez-Monseny T, Muchart-Lopez J, Fernández-Fernández JM, Martorell-Sampol L and Serrano M.

    Early-onset severe spinocerebellar ataxia 42 with neurodevelopmental deficits (SCA42ND): Case report, pharmacological trial, and literature review

    AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 185(1): 256-260. Nº de cites: 2

    [doi:10.1002/ajmg.a.61939]

  • Esquerda-Areste M, Palau F, Lorenzo D, Cambra-Lasaosa FJ, Bofarull M, Cusi V and Grup Interdisciplinar En Bioetica G.

    Ethical questions concerning newborn genetic screening

    CLINICAL GENETICS . 99(1): 93-98. Nº de cites: 10

    [doi:10.1111/cge.13828]

  • Paules C, Youssef L, Miranda J, Crovetto F, Estanyol JM, Fernandez-Isern G, Fàtima Crispi Brillas and Gratacós E.

    Maternal proteomic profiling reveals alterations in lipid metabolism in late-onset fetal growth restriction

    SCIENTIFIC REPORTS . 10(1): 21033-21033. Nº de cites: 9

    [doi:10.1038/s41598-020-78207-3]

  • Vega-García N, Benito R, Esperanza-Cebollada E, Llop M, Robledo C, Vicente-Garces C, Alonso J, Barragán E, Fernandez-Isern G, Hernández-Sánchez JM, Martín-Izquierdo M, Maynou-Fernández J, Minguela A, Montaño A, Ortega M, Torrebadell-Burriel M, Cervera J, Sánchez J, Jiménez-Velasco A, Riesco S, Hernández-Rivas JM, Lassaletta Á, Fernández JM, Rives-Solà S, Dapena JL, Ramírez M and Camós-Guijosa M.

    Helpful Criteria When Implementing NGS Panels in Childhood Lymphoblastic Leukemia

    Journal of Personalized Medicine . 10(4): 244. Nº de cites: 1

    [doi:10.3390/jpm10040244]

  • Batlle C and Ventura S.

    Prion-like domain disease-causing mutations and misregulation of alternative splicing relevance in limb-girdle muscular dystrophy (LGMD) 1G

    NEURAL REGENERATION RESEARCH . 15(12): 2239-2240. Nº de cites: 3

    [doi:10.4103/1673-5374.284988]

  • Vilaseca M, Burgos-Fernandez FJ, Rey-Barroso L, Roldan-Molina M, Gassiot S, Sarrate E, Mario 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: 31

    [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: 3

    [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: 23

    [doi:10.1111/all.14307]