Personas / Equipo Humano

Francesc Palau Martínez

Buscador de publicaciones

Publicaciones

  • García-Sobrino T, Blanco-Arias P, Palau F, Espinós C, Ramirez L, Estela A, San Millán B, Arias M, Sobrido MJ and Pardo J.

    Phenotypical features of a new dominant GDAP1 pathogenic variant (p.R226del) in axonal Charcot-Marie-Tooth disease.

    NEUROMUSCULAR DISORDERS . 27(7): 667-672. Nº de citas: 7

    [doi:10.1016/j.nmd.2017.01.008]

  • Soldevilla B, Cuevas-Martín C, Ibáñez C, Santacatterina F, Alberti MA, Simó C, Casasnovas C, Márquez-Infante C, Sevilla T, Pascual SI, Sánchez-Aragó M, Espinos C, Palau F and Cuezva JM.

    Plasma metabolome and skin proteins in Charcot-Marie-Tooth 1A patients.

    PLoS One . 12(6): . Nº de citas: 13

    [doi:10.1371/journal.pone.0178376]

  • González-Sánchez P, Pla-Martín D, Martínez-Valero P, Rueda CB, Calpena E, Del Arco A, Palau F and Satrústegui J.

    CMT-linked loss-of-function mutations in GDAP1 impair store-operated Ca(2+) entry-stimulated respiration.

    SCIENTIFIC REPORTS . 7: 42993-42993. Nº de citas: 32

    [doi:10.1038/srep42993]

  • Frasquet M, Chumillas MJ, Vílchez JJ, Márquez-Infante C, Palau F, Vázquez-Costa JF, Lupo V, Espinós C and Sevilla T.

    Phenotype and natural history of inherited neuropathies caused by HSJ1 c.352+1G > A mutation

    JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY . 87(11): 1265-147. Nº de citas: 13

    [doi:10.1136/jnnp-2015-312890]

  • Mollá B, Riveiro F, Bolinches-Amorós A, Muñoz-Lasso DC, Palau F and González-Cabo P.

    Two different pathogenic mechanisms, dying-back axonal neuropathy and pancreatic senescence, are present in the YG8R mouse model of Friedreich's ataxia

    DISEASE MODELS & MECHANISMS . 9(6): 647-657. Nº de citas: 13

    [doi:10.1242/dmm.024273]

  • Yubero-Siles D, Brandi-Tarrau N, Ormazabal-Herrero A, Garcia-Cazorla A, Pérez-Dueñas B, Campistol-Plana J, Ribes A, Palau F, Artuch-Iriberri R, Armstrong-Moron J and Working Group.

    Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism

    PLoS One . 11(5): . Nº de citas: 40

    [doi:10.1371/journal.pone.0156359]

  • Sevilla T, Lupo V, Martínez-Rubio D, Sancho P, Sivera R, Chumillas MJ, García-Romero M, Pascual-Pascual SI, Muelas N, Dopazo J, Vílchez JJ, Palau F and Espinós C.

    Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease

    BRAIN . 139: 62-72. Nº de citas: 73

    [doi:10.1093/brain/awv311]

  • Prieto J, León M, Ponsoda X, García-García F, Bort R, Serna E, Barneo-Muñoz M, Palau F, Dopazo J, López-García C and Torres J.

    Dysfunctional mitochondrial fission impairs cell reprogramming

    Cell Cycle . 15(23): 3240-3250. Nº de citas: 34

    [doi:10.1080/15384101.2016.1241930]

  • Yubero-Siles D, Montero-Sanchez R, Armstrong-Moron J, Espinós C, Palau F, Santos-Ocaña C, Salviati L, Navas P and Artuch-Iriberri R.

    Molecular diagnosis of coenzyme Q10 deficiency

    EXPERT REVIEW OF MOLECULAR DIAGNOSTICS . 15(8): 1049-1059. Nº de citas: 15

    [doi:10.1586/14737159.2015.1062727]

  • Calpena, E., Palau F, Espinós, C. and Galindo, M.I..

    Evolutionary History of the Smyd Gene Family in Metazoans: A Framework to Identify the Orthologs of Human Smyd Genes in Drosophila and Other Animal Species

    PLoS One . 10(7): . Nº de citas: 18

    [doi:10.1371/journal.pone.0134106]