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Publications

  • Pérez-Santamarina E, García-Ruiz P, Martínez-Rubio D, Ezquerra M, Pla-Navarro I, Puente J, Martí MJ, Palau F and Hoenicka J.

    Regulatory rare variants of the dopaminergic gene ANKK1 as potential risk factors for Parkinson's disease.

    SCIENTIFIC REPORTS . 11(1): 9879-9879. Number of citations: 4

    [doi:10.1038/s41598-021-89300-6]

  • Civera-Tregon A, Dominguez-Brezosa L, Martínez-Valero P, Serrano C, Vallmitjana A, Benítez R, Hoenicka J, Satrústegui J and Palau F.

    Mitochondria and calcium defects correlate with axonal dysfunction in GDAP1-related Charcot-Marie-Tooth mouse model.

    NEUROBIOLOGY OF DISEASE . 152: 105300-105300. Number of citations: 8

    [doi:10.1016/j.nbd.2021.105300]

  • Yubero-Siles D, Natera-de Benito D, Pijuan-Marquilles J, Armstrong-Moron J, Martorell-Sampol L, Fernandez-Isern G, Maynou-Fernández J, Jou-Munoz C, Roldan-Molina M, Ortez-Gonzalez CI, Nascimento-Osorio A, Hoenicka J and Palau F.

    The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular Diseases.

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 22(8): 4274. Number of citations: 4

    [doi:10.3390/ijms22084274]

  • Díaz-Santiago E, Claros MG, Yahyaoui R, de Diego-Otero Y, Calvo R, Hoenicka J, Palau F, Ranea JAG and Perkins JR.

    Decoding Neuromuscular Disorders Using Phenotypic Clusters Obtained From Co-Occurrence Networks.

    Frontiers in Molecular Biosciences . 8: 635074-635074. Number of citations: 3

    [doi:10.3389/fmolb.2021.635074]

  • Chen Z, Zhang D, Reynolds RH, Gustavsson EK, García-Ruiz S, D'Sa K, Fairbrother-Browne A, Vandrovcova J, Hardy J, Houlden H, Gagliano Taliun SA, Botía J, Ryten M and International Parkinson’s Disease Genomics Consortium (IPDGC).

    Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage.

    NATURE COMMUNICATIONS . 12(1): 2076-2076.

    [doi:10.1038/s41467-021-22262-5]

  • Kia DA, Zhang D, Guelfi S, Manzoni C, Hubbard L, Reynolds RH, Botía J, Ryten M, Ferrari R, Lewis PA, Williams N, Trabzuni D, Hardy J, Wood NW and United Kingdom Brain Expression Consortium (UKBEC) and the International Parkins.

    Identification of Candidate Parkinson Disease Genes by Integrating Genome-Wide Association Study, Expression, and Epigenetic Data Sets.

    JAMA NEUROLOGY . 78(4): 464-472. Number of citations: 21

    [doi:10.1001/jamaneurol.2020.5257]

  • 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. Number of citations: 12

    [doi:10.1093/hmg/ddaa243]

  • 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. Number of citations: 3

    [doi:10.1016/j.jmoldx.2020.10.006]

  • Iwaki H, Blauwendraat C, Makarious MB, Bandrés-Ciga S, Leonard HL, Gibbs JR, Hernandez DG, Scholz SW, Faghri F, Nalls MA, Singleton AB and International Parkinson's Disease Genomics Consortium (IPDGC).

    Penetrance of Parkinson's Disease in LRRK2 p.G2019S Carriers Is Modified by a Polygenic Risk Score.

    MOVEMENT DISORDERS . 35(5): 774-780. Number of citations: 24

    [doi:10.1002/mds.27974]

  • Leonard H, Blauwendraat C, Krohn L, Faghri F, Iwaki H, Ferguson G, Day-Williams AG, Stone DJ, Singleton AB, Nalls MA, Gan-Or Z and International Parkinson's Disease Genomic Consortium (IPDGC).

    Genetic variability and potential effects on clinical trial outcomes: perspectives in Parkinson's disease.

    JOURNAL OF MEDICAL GENETICS . 57(5): 331-338. Number of citations: 16

    [doi:10.1136/jmedgenet-2019-106283]