People / Staff

Francesc Palau Martínez

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Publications

  • 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 Ca2+ entry-stimulated respiration

    SCIENTIFIC REPORTS . 7: 42993-42993. Number of citations: 36

    [doi:10.1038/srep42993]

  • 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. Number of citations: 24

    [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): . Number of citations: 44

    [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. Number of citations: 95

    [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. Number of citations: 38

    [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. Number of citations: 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): . Number of citations: 23

    [doi:10.1371/journal.pone.0134106]

  • Hoenicka J, García-Ruiz PJ, Ponce G, Herranz A, Martínez-Rubio D, Pérez-Santamarina E and Palau F.

    The Addiction-Related Gene ANKK1 in Parkinsonian Patients with Impulse Control Disorder

    NEUROTOXICITY RESEARCH . 27(3): 205-208. Number of citations: 16

    [doi:10.1007/s12640-014-9504-x]

  • Calpena E, Casado-Rio M, Martínez-Rubio D, Nascimento-Osorio A, Colomer J, Gargallo-Burriel E, Garcia-Cazorla A, Palau F, Artuch-Iriberri R and Espinós C.

    5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes

    JIMD Reports . 7: 123-128. Number of citations: 14

    [doi:10.1007/8904_2012_166]

  • Carmona J, Burguera JA, Mollà B, Mulas F, Smeyers P, Carratalà F, De Yebenes JG, Hoenicka J and Palau F.

    Unique origin and low penetrance of the 946delGAG mutation in Valencian DYT1 families

    CLINICAL GENETICS . 64(2): 153-159. Number of citations: 3

    [doi:10.1034/j.1399-0004.2003.00084.x]