Equipo de Investigación Dr. Francesc Palau. Institut de Recerca Sant Joan de Déu de Barcelona

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Palau F. La relevancia de las enfermedades raras. Investigación y Ciencia 2016 octubre; 481: 62

Yubero D, Brandi N, Ormazabal A, Garcia-Cazorla A, Pérez-Dueñas B, Campistol J, Ribes A, Palau F, Artuch R,  Armstrong J, and Working Group. Targeted next generation sequencing in patients with inborn errors of metabolism. PLoS One 2016; 11: e0156359

Mollá B, Riveiro F, Bolinches-Amorós A, Muñoz-Lasso MC, Palau F, González-Cabo P. Two different pathogenic mechanisms, dying-back axonal neuropathy and pancreatic senescence, are present in the YG8R mouse model of Friedreich ataxia. Disease Models and Mechanisms 2016;  9: 647-657

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, Espinós C. Mutations in MORC2 gene cause axonal Charcot-Marie-Tooth disease. Brain 2016; 139: 62-72

Barneo-Muñoz M, Juárez P, Civera-Tregón A, Yndriago L, Pla-Martin D, Zenker J, Cuevas-Martín C, Estela A, Sánchez-Aragó M, Forteza-Vila J, Cuezva JM, Chrast R, Palau F. Lack of GDAP1 induces neuronal calcium and mitochondrial defects in a knockout mouse model of Charcot-Marie-Tooth neuropathy. PLoS Genetics 2015; 11: e1005115

Hoenicka J, García-Ruiz P, Ponce G, Herranz A, Martínez-Rubio D, Pérez-Santamarina E, Palau F. The addiction-related gene ANKK1 in parkinsonian patients with impulse control disorder. Neurotoxicity Research 2015; 7:205-208

Pla-Martín D, Calpena E, Lupo V, Márquez C, Rivas E, Sivera R, Sevilla T, Palau F, Espinós C. Junctophilin-1 is a modifier gene of GDAP1-related Charcot-Marie-Tooth disease. Human Molecular Genetics 2015; 24: 213-229

Barberà-Tomás D, Palau F, Villanueva A, Woolley R. ¿Innovaciones ocultas en enfermedades raras? Analizando las diversas formas de retorno social de la investigación clínica. SEBBM – Revista, 2014; 180: 17-19

Bolinches-Amorós A, Mollá B,  Pla-Martin D, Palau F, González-Cabo P. Mitochondrial dysfunction induced by frataxin deficiency is associated with cellular senescence and abnormal calcium metabolism. Frontiers in Cellular Neuroscience 2014;8:124

Sivera R, Sevilla T, Vílchez JJ, Martínez-Rubio D, Chumillas MJ, Vázquez JF, Muelas N, Bataller L, Millan JM, Palau F, Espinós C. Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series. Neurology 2013; 81:1617-1625

González-Cabo P, Palau F. Mitochondrial pathophysiology in Friedreich’s ataxia. Journal of Neurochemistry 2013; 126 (Suppl. 1):53-64

Pla-Martín D, Rueda C, Estela A, Sánchez-Piris M, González-Sánchez P Traba J, Scorrano L, Renau-Piqueras J, Alvarez J, Satrústegui J, Palau F. Silencing of the Charcot-Marie-Tooth disease-associated gene GDAP1 induces abnormal mitochondrial distribution and affects Ca2+ homeostasis by reducing store-operated Ca2+ entry. Neurobiology of Disease 2013; 55: 140-151.

 

En los últimos tres años se han reportado los primeros resultados en modo de publicaciones científicas y divulgativas relacionadas con el proyecto, que se resumen del siguiente modo:

 

  • Pijuan J, Rodríguez-Sanz M, Osuna-López M, Natera-de Benito D, Roura M, Ortez C, Ugalde M, San Antonio-Arce V, Van de Vondel L, Nascimiento A, Benitez R, Hoenicka J, Palau F. Clinical and functional genomics to identify and validate genetic variants in the diagnosis of children with rare neurogenetic diseases. Journal of Molecular Diagnostics 2020 (en revisión)

 

  • Dal-Ré R, Palau F, Guillen-Navarro E, Ayuso C. Ensayos clínicos en enfermedades raras financiados por los participantes. Anales de Pediatría 2020 (en prensa)

 

  • Martinez-Monseny AF, Casas-Alba D, Arjona C, Bolasell M, Casano P, Muchart J, Ramos F, Palau F, García-Álix A, Serrano M. Okur-Chung neurodevelopmental syndrome in a patient from Spain. American Journal of Medical Genetics A 2020 (doi: 10.1002/ajmg.a.61405)

 

  • Palau F. Medicina personalizada o de precisión: la homeostasis de la individualidad. SEBBM – Revista 2020; 203: 8-13

 

  • Palau F. Pediatric Genomics and Precision Medicine in Childhood. In: Precision Medicine for Investigators, Practioners and Providers, Faintuch J and Faintuch S eds., Elsevier, pp. 143-152, 2020

 

  • Palau F, Espinós C. Approach to the differential diagnosis of cerebellar ataxias. In: Handbook of the Cerebellum and Cerebellar Disorders, 2nd edn. M. Manto, D. Gruol, J. Schmahmann, N. Koibuchi, R. Sillitoe eds. Springer Nature Switzerland AG, pp. 1799-1817, 2020

 

  • Pillai NR, Yubero D, Shayota BJ, Oyarzábal A, Ghosh R, Sun Q, Azamian MS, Palau F, Lalani SR, Artuch R, García-Cazorla A, Scott DA. Loss of CLTRN function produces a neuropsychiatric disorder associated with a biochemical phenotype that mimics Hartnup disease. American Journal of Medical Genetics A 2019; 179: 2459-2468

 

  • Carrera-García L, Natera-de Benito D, Dieterich K, Gómez García de la Banda M, Felter A, Inarejos E, Codina A, Jou C, Roldan-Molina M, Palau F, Hoenicka J, Pijuan J, Ortez C, Expósito-Escudero J, Jimenez-Mallebrera C, Colomer J, Carlier RY, Lochmüller H, Quijano-Roy S, Nascimento A. CHRNG-related non-lethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings. American Journal of Medical Genetics A 2019;179: 915-926

 

  • Casas-Alba D, Martínez-Monseny A, Pino-Ramírez RM, Alsina L, Castejón E, Navarro-Vilarrubí S, Pérez-Dueñas B, Serrano M, Palau F García-Alix A. Hyaline fibromatosis syndrome: clinical update and phenotype-genotype correlations. Human Mutation 2018 39(12):1752-1763.

 

  • Martinez-Monseny A, Bolasell M, Arjona C, Martorell L, Yubero D, Armstrong J, Maynou j, Fernandez G, Carmen Salgado MC, Palau F, Serrano M. Mutation of PACS1: the milder end of the spectrum. Clinical Dysmorphology 2018 27(4):148-150.

 

 

  • Palau F, García-Alix A. Genoma humano y medicina. Revista: Anales de Pediatría (Barc) 2018, 89(1):1-2.

 

  • Palau F. Diagnóstico de las enfermedades raras no-diagnosticadas. EIDON 2017; 47: 17-30.