Research

Neurogenetics and Molecular Medicine

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Publications

  • Soliani L, Martorell-Sampol L, Yubero-Siles D, Verges C, Petit V and Ortigoza-Escobar JD.

    Paroxysmal Non-Kinesigenic Dyskinesia: Utility of the Quantification of GLUT1 in Red Blood Cells

    Movement Disorders Clinical Practice . 9(2): 252-254. Number of citations: 1

    [doi:10.1002/mdc3.13391]

  • 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: 10

    [doi:10.3389/fnins.2022.784880]

  • 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. Number of citations: 3

    [doi:10.20517/jtgg.2022.04]

  • 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. Number of citations: 2

    [doi:10.20517/jtgg.2022.03]

  • 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. Number of citations: 5

    [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. Number of citations: 74

    [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. Number of citations: 5

    [doi:10.1093/hmg/ddab207]

  • Ramon-Krauel M, Amat-Bou M, Serrano M, Martinez-Monseny T and Lerin C.

    Targeting the Gut Microbiome in Prader-Willi Syndrome.

    Journal of Clinical Medicine . 10(22): 5328. Number of citations: 1

    [doi:10.3390/jcm10225328]

  • Tamura N, Sakai S, Martorell-Sampol L, Colomé-Roura R, Mizuike A, Goto A, Ortigoza-Escobar JD and Hanada K.

    Intellectual-disability-associated mutations in the ceramide transport protein gene CERT1 lead to aberrant function and subcellular distribution

    JOURNAL OF BIOLOGICAL CHEMISTRY . 297(5): 101338-101338. Number of citations: 11

    [doi:10.1016/j.jbc.2021.101338]

  • Paredes-Fuentes AJ, César-Díaz S, Montero-Sanchez R, Latre C, Genovés-Escarré J, Martorell-Sampol L, Cuadras-Palleja D, Colom H, Pineda M, O'Callaghan-Gordo M, Sarquella-Brugada G, Darling A and Artuch-Iriberri R.

    Plasma idebenone monitoring in Friedreich's ataxia patients during a long-term follow-up

    BIOMEDICINE & PHARMACOTHERAPY . 143: 112143-112143. Number of citations: 8

    [doi:10.1016/j.biopha.2021.112143]