Persones / Equip Humà

Janet Hoenicka

Buscador de publicacions

Publicacions

  • 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. Nº de cites: 8

    [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. Nº de cites: 2

    [doi:10.1016/j.parkreldis.2022.03.005]

  • Vela-Desojo L, Urso D, Osuna-Lopez M and Hoenicka J.

    Non-Motor Symptoms in PLA2G6-Associated Dystonia-Parkinsonism: A Case Report and Literature Review

    Journal of Clinical Medicine . 11(6): .

    [doi:10.3390/jcm11061590]

  • 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. Nº de cites: 2

    [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. Nº de cites: 8

    [doi:10.3389/fnins.2022.784880]

  • 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. Nº de cites: 2

    [doi:10.20517/jtgg.2022.03]

  • Estévez-Arias B, Carrera-García L, Nascimento-Osorio A, Cantarero-Abad L, Hoenicka J and Palau F.

    Genetic approaches and pathogenic pathways in the clinical management of Charcot-Marie-Tooth disease

    Journal of Translational Genetics and Genomics . 6(3): 333-352. Nº de cites: 3

    [doi:10.20517/jtgg.2022.04]

  • von der Lippe C, Tveten K, Prescott TE, Holla ØL, Busk ØL, Burke KB, Sansbury FH, Baptista J, Fry AE, Lim D, Jolles S, Evans J, Osio D, Macmillan C, Bruno I, Faltera F, Climent S, Urreitzi R, Hoenicka J, Palau F, Cohen ASA, Engleman K, Zhou D, Amudhavalli SM, Jeanne M, Bonnet-Brilhault F, Lévy J, Drunat S, Derive N, Haug MG and Thorstensen WM.

    Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin

    AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 188(1): 272-282. Nº de cites: 4

    [doi:10.1002/ajmg.a.62492]

  • Storm CS, Kia DA, Almramhi MM, Bandres-Ciga S, Finan C, Hingorani AD and Wood NW.

    Finding genetically-supported drug targets for Parkinson's disease using Mendelian randomization of the druggable genome.

    NATURE COMMUNICATIONS . 12(1): 7342-7342. Nº de cites: 52

    [doi:10.1038/s41467-021-26280-1]

  • 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. Nº de cites: 4

    [doi:10.1093/hmg/ddab207]