Search publications

Publications

  • Carrera, L, Cantarero-Abad L, Nolasco, G, Pijuan, J, Natera-de Benito D, Estevez, B, Exposito, J, Colomer J, Ortez-Gonzalez CI, Palau F, Hoenicka J and Nascimento-Osorio A.

    Early onset hereditary neuropathies related to mitochondrial dynamics in pediatric patients

    NEUROMUSCULAR DISORDERS . 31: 114-114.

    [doi:10.1016/j.nmd.2021.07.239]

  • Juárez-Escoto E, Cantarero-Abad L, Hoenicka J and Palau F.

    alpha-Synuclein deficiency or overexpression induces neuroinflammatory responses in mice

    FEBS Open Bio . 11: 471-472.

  • Leonard H, Lake J, Kim JJ, Gibbs JR, Ruskey JA, Pihlstrøm L, Eerola-Rautio J, Tienari PJ, Grosset DG, Wood N, Noyce AJ, Middlehurst B, Kia DA, Tan M, Houlden H, Storm CS, Morris HR, Plun-Favreau H, Holmans P, Hardy J, Trabzuni D, Quinn J, Bubb V, Mok KY, Kinghorn KJ, Wood NW, Lewis P, Schreglmann SR, Lovering R, R'Bibo L, Manzoni C, Rizig M, Ryten M, Guelfi S, Escott-Price V, Chelban V, Foltynie T, Williams N, Morrison KE, Clarke C, Harvey K, Jacobs BM, Brice A, Danjou F, Lesage S, Corvol JC, Martinez M, Schulte C, Brockmann K, Simón-Sánchez J, Heutink P, Rizzu P, Sharma M, Gasser T, Schneider SA, Cookson MR, Bandres-Ciga S, Blauwendraat C, Craig DW, Billingsley K, Makarious MB, Narendra DP, Faghri F, Gibbs JR, Hernandez DG, Van Keuren-Jensen K, Shulman JM, Iwaki H, Leonard HL, Nalls MA, Robak L, Bras J, Guerreiro R, Lubbe S, Troycoco T, Finkbeiner S, Mencacci NE, Lungu C, Singleton AB, Scholz SW, Reed X, Uitti RJ, Ross OA, Grenn FP, Moore A, Alcalay RN, Wszolek ZK, Gan-Or Z, Rouleau GA, Krohn L, Mufti K, van Hilten JJ, Marinus J, Adarmes-Gómez AD, Aguilar M, Alvarez I, Alvarez V, Barrero FJ, Yarza JAB, Bernal-Bernal I, Blazquez M, Bonilla-Toribio M, Botía JA, Boungiorno MT, Buiza-Rueda D, Cámara A, Carrillo F, Carrión-Claro M, Cerdan D, Clarimón J, Compta Y, Diez-Fairen M, Dols-Icardo O, Duarte J, Duran R, Escamilla-Sevilla F, Ezquerra M, Feliz C, Fernández M, Fernández-Santiago R, Garcia C, García-Ruiz P, Gómez-Garre P, Heredia MJG, Gonzalez-Aramburu I, Pagola AG, Hoenicka J, Infante J, Jesús S, Jimenez-Escrig A, Kulisevsky J, Labrador-Espinosa MA, Lopez-Sendon JL, de Munain Arregui AL, Macias D, Torres IM, Marín J, Marti MJ, Martínez-Castrillo JC, Méndez-Del-Barrio C, González MM, Mata M, Mínguez A, Mir P, Rezola EM, Muñoz E, Pagonabarraga J, Pastor P, Errazquin FP, Periñán-Tocino T, Ruiz-Martínez J, Ruz C, Rodriguez AS, Sierra M, Suarez-Sanmartin E, Tabernero C, Tartari JP, Tejera-Parrado C, Tolosa E, Valldeoriola F, Vargas-González L, Vela L, Vives F, Zimprich A, Pihlstrom L, Toft M, Taba P, Koks S, Hassin-Baer S, Majamaa K, Siitonen A, Tienari P, Okubadejo NU, Ojo OO, Kaiyrzhanov R, Shashkin C, Zharkinbekova N, Akhmetzhanov V, Kaishybayeva G, Karimova A, Khaibullin T, Lynch TL and International Parkinson's Disease Genomics Consortium (IPDGC).

    Investigation of Autosomal Genetic Sex Differences in Parkinson's Disease.

    ANNALS OF NEUROLOGY . 90(1): 35-42.

    [doi:10.1002/ana.26090]

  • Natera-de Benito D, Sola A, Sousa PR, Boronat S, Expósito-Escudero J, Carrera-García L, Ortez-Gonzalez CI, Jou-Munoz C, Muchart-Lopez J, Rebollo M, Armstrong-Moron J, Colomer J, Garcia-Cazorla A, Hoenicka J, Palau F and Nascimento-Osorio A.

    Copper Toxicity Associated With an ATP7A-Related Complex Phenotype

    PEDIATRIC NEUROLOGY . 119: 40-44.

    [doi:10.1016/j.pediatrneurol.2021.03.005]

  • Pijuan J, Ortigoza-Escobar JD, Juan Jairo Ortiz Guerra, Alcalá A, Calvo MJ, Cubells M, Hernando-Davalillo C, Palau F and Hoenicka J.

    PLXNA2 and LRRC40 as candidate genes in autism spectrum disorder.

    AUTISM RESEARCH . 14(6): 1088-1100. Number of citations: 2

    [doi:10.1002/aur.2502]

  • 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.

    [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: 3

    [doi:10.1016/j.nbd.2021.105300]

  • Yubero-Siles D, Natera-de Benito D, Pijuan J, Armstrong-Moron J, Martorell-Sampol L, Fernàndez G, Joan Maynou Fernández, Jou-Munoz C, Roldan 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.

    [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: 2

    [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]