Publications
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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. Number of citations: 13
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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: 13
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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: 40
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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: 64
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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: 34
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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: 13
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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: 16
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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.
NEUROTOX RES . 27(3): 205-208. Number of citations: 15
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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: 11