Staff

Janet Hoenicka

Search publications

Publications

  • Cantarero-Abad L, García-Vargas G, Hoenicka J and Palau F.

    Differential effects of Mendelian GDAP1 clinical variants on mitochondria-lysosome membrane contacts sites

    BIOLOGY OPEN . 12(4): . Number of citations: 1

    [doi:10.1242/bio.059707]

  • Nascimento-Osorio A, Bruels CC, Donkervoort S, Foley AR, Codina-Bergadà A, Milisenda JC, Estrella EA, Li C, Pijuan-Marquilles J, Draper I, Hu Y, Stafki SA, Pais LS, Ganesh VS, O'Donnell-Luria A, Syeda SB, Carrera-García L, Exposito-Escudero JM, Yubero-Siles D, Martorell-Sampol L, Pinal-Fernandez I, Lidov HGW, Mammen AL, Grau-Junyent JM, Ortez-Gonzalez CI, Palau F, Ghosh PS, Darras BT, Jou-Munoz C, Kunkel LM, Hoenicka J, Bönnemann CG, Kang PB and Natera-de Benito D.

    Variants in DTNA cause a mild, dominantly inherited muscular dystrophy

    ACTA NEUROPATHOLOGICA . 145(4): 479-496.

    [doi:10.1007/s00401-023-02551-7]

  • Natera-de Benito D, Olival J, Garcia-Cabau C, Jou-Munoz C, Roldan-Molina M, Codina-Bergadà A, Exposito-Escudero JM, Batlle C, Carrera-García L, Ortez-Gonzalez CI, Salvatella X, Palau F, Nascimento-Osorio A and Hoenicka J.

    Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants

    Annals of Clinical and Translational Neurology . 10(3): 408-425.

    [doi:10.1002/acn3.51731]

  • Casas-Alba D, Hoenicka J, Vilanova-Adell A, Vega-Hana L, Pijuan-Marquilles J and Palau F.

    Diagnostic strategies in patients with undiagnosed and rare diseases

    Journal of Translational Genetics and Genomics . 6(3): 322-332.

    [doi:10.20517/jtgg.2022.03]

  • Luque J, Mendes I, Gómez B, Morte B, de Heredia ML, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch-Iriberri R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F, CIBERER Network and Lapunzina P.

    CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.

    CLINICAL GENETICS . 101(5-6): 481-493. Number of citations: 4

    [doi:10.1111/cge.14113]

  • Rosas I, Morís G, Coto E, Blázquez-Estrada M, Suárez E, García-Fernández C, Martínez C, Herrera ID, Pérez-Oliveira S, Álvarez V, Menéndez-González M and Spain_PD consortium.

    Smoking is associated with age at disease onset in Parkinson's disease.

    PARKINSONISM & RELATED DISORDERS . 97: 79-83. Number of citations: 1

    [doi:10.1016/j.parkreldis.2022.03.005]

  • Martinez-Esteve Melnikova A, Pijuan-Marquilles J, Aparicio J, Ramírez-Camacho A, Altisent A, Vilanova-Adell A, Arzimanoglou A, Armstrong-Moron J, Palau F, Hoenicka J and San Antonio-Arce MV.

    The p.Glu787Lys variant in the GRIA3 gene causes developmental and epileptic encephalopathy mimicking structural epilepsy in a female patient

    EUROPEAN JOURNAL OF MEDICAL GENETICS . 65(3): 104442-104442. Number of citations: 1

    [doi:10.1016/j.ejmg.2022.104442]

  • Pijuan-Marquilles J, Cantarero-Abad L, Natera-de Benito D, Altimir A, Altisent A, Díaz-Osorio Y, Carrera-García L, Exposito-Escudero JM, Ortez-Gonzalez CI, Nascimento-Osorio A, Hoenicka J and Palau F.

    Mitochondrial Dynamics and Mitochondria-Lysosome Contacts in Neurogenetic Diseases.

    FRONTIERS IN NEUROSCIENCE . 16: 784880-784880. Number of citations: 4

    [doi:10.3389/fnins.2022.784880]

  • Nuevo-Tapioles C, Santacatterina F, Sánchez-Garrido B, Arenas CN, Robledo-Bérgamo A, Martínez-Valero P, Cantarero-Abad L, Pardo B, Hoenicka J, Murphy MP, Satrústegui J, Palau F and Cuezva JM.

    Effective therapeutic strategies in a preclinical mouse model of Charcot-Marie-Tooth disease.

    HUMAN MOLECULAR GENETICS . 30(24): 2441-2455. Number of citations: 2

    [doi:10.1093/hmg/ddab207]

  • 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.