{"id":12836,"date":"2017-03-14T21:41:39","date_gmt":"2017-03-14T20:41:39","guid":{"rendered":"https:\/\/www.fundacionisabelgemio.com\/non-classifiee\/grupo-investigacion-neurogenetica-medicina-molecular-institut-recerca-sant-joan-deu"},"modified":"2020-04-15T22:29:50","modified_gmt":"2020-04-15T21:29:50","slug":"grupo-investigacion-neurogenetica-medicina-molecular-institut-recerca-sant-joan-deu","status":"publish","type":"post","link":"https:\/\/www.fundacionisabelgemio.com\/fr\/comite-fr-2\/grupo-investigacion-neurogenetica-medicina-molecular-institut-recerca-sant-joan-deu","title":{"rendered":"Equipo de Investigaci\u00f3n Dr. Francesc Palau. Institut de Recerca Sant Joan de D\u00e9u de Barcelona"},"content":{"rendered":"<p>Palau F. La relevancia de las enfermedades raras. <b><i>Investigaci\u00f3n y Ciencia<\/i><\/b> 2016 octubre; 481: 62<\/p>\n<p>Yubero D, Brandi N, Ormazabal A, Garcia-Cazorla A, P\u00e9rez-Due\u00f1as B, Campistol J, Ribes A, Palau F, Artuch R, \u00a0Armstrong J, and Working Group. Targeted next generation sequencing in patients with inborn errors of metabolism. <b><i>PLoS One<\/i><\/b> 2016; 11: e0156359<\/p>\n<p>Moll\u00e1 B, Riveiro F, Bolinches-Amor\u00f3s A, Mu\u00f1oz-Lasso MC, Palau F, Gonz\u00e1lez-Cabo P. Two different pathogenic mechanisms, dying-back axonal neuropathy and pancreatic senescence, are present in the YG8R mouse model of Friedreich ataxia. <b><i>Disease Models and Mechanisms<\/i><\/b> 2016; \u00a09: 647-657<\/p>\n<p>Sevilla T, Lupo V, Mart\u00ednez-Rubio D, Sancho P, Sivera R, Chumillas MJ, Garc\u00eda-Romero M, Pascual-Pascual SI, Muelas N, Dopazo J, V\u00edlchez JJ, Palau F, Espin\u00f3s C. Mutations in MORC2 gene cause axonal Charcot-Marie-Tooth disease. <b><i>Brain<\/i><\/b> 2016; 139: 62-72<\/p>\n<p>Barneo-Mu\u00f1oz M, Ju\u00e1rez P, Civera-Treg\u00f3n A, Yndriago L, Pla-Martin D, Zenker J, Cuevas-Mart\u00edn C, Estela A, S\u00e1nchez-Arag\u00f3 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. <b><i>PLoS Genetics<\/i><\/b> 2015; 11: e1005115<\/p>\n<p>Hoenicka J, Garc\u00eda-Ruiz P, Ponce G, Herranz A, Mart\u00ednez-Rubio D, P\u00e9rez-Santamarina E, Palau F. The addiction-related gene ANKK1 in parkinsonian patients with impulse control disorder. <b><i>Neurotoxicity Research<\/i><\/b> 2015; 7:205-208<\/p>\n<p>Pla-Mart\u00edn D, Calpena E, Lupo V, M\u00e1rquez C, Rivas E, Sivera R, Sevilla T, Palau F, Espin\u00f3s C. Junctophilin-1 is a modifier gene of <i>GDAP1<\/i>-related Charcot-Marie-Tooth disease. <b><i>Human Molecular Genetics<\/i><\/b> 2015; 24: 213-229<\/p>\n<p>Barber\u00e0-Tom\u00e1s D, Palau F, Villanueva A, Woolley R. \u00bfInnovaciones ocultas en enfermedades raras? Analizando las diversas formas de retorno social de la investigaci\u00f3n cl\u00ednica. <b><i>SEBBM \u2013 Revista<\/i><\/b>, 2014; 180: 17-19<\/p>\n<p>Bolinches-Amor\u00f3s A, Moll\u00e1 B, \u00a0Pla-Martin D, Palau F, Gonz\u00e1lez-Cabo P. Mitochondrial dysfunction induced by frataxin deficiency is associated with cellular senescence and abnormal calcium metabolism. <b><i>Frontiers in Cellular Neuroscience<\/i><\/b> 2014;8:124<\/p>\n<p>Sivera R, Sevilla T, V\u00edlchez JJ, Mart\u00ednez-Rubio D, Chumillas MJ, V\u00e1zquez JF, Muelas N, Bataller L, Millan JM, Palau F, Espin\u00f3s C. Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series. <b><i>Neurology<\/i><\/b> 2013; 81:1617-1625<\/p>\n<p>Gonz\u00e1lez-Cabo P, Palau F. Mitochondrial pathophysiology in Friedreich\u2019s ataxia. <b><i>Journal of Neurochemistry<\/i><\/b> 2013; 126 (Suppl. 1):53-64<\/p>\n<p>Pla-Mart\u00edn D, Rueda C, Estela A, S\u00e1nchez-Piris M, Gonz\u00e1lez-S\u00e1nchez P Traba J, Scorrano L, Renau-Piqueras J, Alvarez J, Satr\u00fastegui 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. <b><i>Neurobiology of Disease<\/i><\/b> 2013; 55: 140-151.<\/p>\n<p>&nbsp;<\/p>\n<p>En los \u00faltimos tres a\u00f1os se han reportado los primeros resultados en modo de publicaciones cient\u00edficas y divulgativas relacionadas con el proyecto, que se resumen del siguiente modo:<\/p>\n<p>&nbsp;<\/p>\n<ul>\n<li>Pijuan J, Rodr\u00edguez-Sanz M, Osuna-L\u00f3pez 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 revisi\u00f3n)<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<ul>\n<li>Dal-R\u00e9 R, Palau F, Guillen-Navarro E, Ayuso C. Ensayos cl\u00ednicos en enfermedades raras financiados por los participantes. Anales de Pediatr\u00eda 2020 (en prensa)<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<ul>\n<li>Martinez-Monseny AF, Casas-Alba D, Arjona C, Bolasell M, Casano P, Muchart J, Ramos F, Palau F, Garc\u00eda-\u00c1lix 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)<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<ul>\n<li>Palau F. Medicina personalizada o de precisi\u00f3n: la homeostasis de la individualidad. SEBBM \u2013 Revista 2020; 203: 8-13<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<ul>\n<li>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<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<ul>\n<li>Palau F, Espin\u00f3s 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<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<ul>\n<li>Pillai NR, Yubero D, Shayota BJ, Oyarz\u00e1bal A, Ghosh R, Sun Q, Azamian MS, Palau F, Lalani SR, Artuch R, Garc\u00eda-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<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<ul>\n<li>Carrera-Garc\u00eda L, Natera-de Benito D, Dieterich K, G\u00f3mez Garc\u00eda de la Banda M, Felter A, Inarejos E, Codina A, Jou C, Roldan-Molina M, Palau F, Hoenicka J, Pijuan J, Ortez C, Exp\u00f3sito-Escudero J, Jimenez-Mallebrera C, Colomer J, Carlier RY, Lochm\u00fcller 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<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<ul>\n<li>Casas-Alba D, Mart\u00ednez-Monseny A, Pino-Ram\u00edrez RM, Alsina L, Castej\u00f3n E, Navarro-Vilarrub\u00ed S, P\u00e9rez-Due\u00f1as B, Serrano M, Palau F Garc\u00eda-Alix A. Hyaline fibromatosis syndrome: clinical update and phenotype-genotype correlations. Human Mutation 2018 39(12):1752-1763.<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<ul>\n<li>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.<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<ul>\n<li>Palau F (coord.). Medicina, Ciencia y Realidad de las Enfermedades Raras. Arbor \u2013 Ciencia, Pensamiento y Cultura; vol 194, n\u00ba 789, 2018. <a href=\"http:\/\/arbor.revistas.csic.es\/index.php\/arbor\/issue\/view\/175\">http:\/\/arbor.revistas.csic.es\/index.php\/arbor\/issue\/view\/175<\/a>;<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<ul>\n<li>Palau F, Garc\u00eda-Alix A. Genoma humano y medicina. Revista: Anales de Pediatr\u00eda (Barc) 2018, 89(1):1-2.<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<ul>\n<li>Palau F. Diagn\u00f3stico de las enfermedades raras no-diagnosticadas. EIDON 2017; 47: 17-30.<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Palau F. La relevancia de las enfermedades raras. Investigaci\u00f3n y Ciencia 2016 octubre; 481: 62 Yubero D, Brandi N, Ormazabal [&hellip;]<\/p>\n","protected":false},"author":2,"featured_media":21692,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_exactmetrics_skip_tracking":false,"_exactmetrics_sitenote_active":false,"_exactmetrics_sitenote_note":"","_exactmetrics_sitenote_category":0,"footnotes":""},"categories":[723],"tags":[],"class_list":["post-12836","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-comite-fr-2"],"_links":{"self":[{"href":"https:\/\/www.fundacionisabelgemio.com\/fr\/wp-json\/wp\/v2\/posts\/12836","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.fundacionisabelgemio.com\/fr\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.fundacionisabelgemio.com\/fr\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.fundacionisabelgemio.com\/fr\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.fundacionisabelgemio.com\/fr\/wp-json\/wp\/v2\/comments?post=12836"}],"version-history":[{"count":1,"href":"https:\/\/www.fundacionisabelgemio.com\/fr\/wp-json\/wp\/v2\/posts\/12836\/revisions"}],"predecessor-version":[{"id":12839,"href":"https:\/\/www.fundacionisabelgemio.com\/fr\/wp-json\/wp\/v2\/posts\/12836\/revisions\/12839"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.fundacionisabelgemio.com\/fr\/wp-json\/wp\/v2\/media\/21692"}],"wp:attachment":[{"href":"https:\/\/www.fundacionisabelgemio.com\/fr\/wp-json\/wp\/v2\/media?parent=12836"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.fundacionisabelgemio.com\/fr\/wp-json\/wp\/v2\/categories?post=12836"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.fundacionisabelgemio.com\/fr\/wp-json\/wp\/v2\/tags?post=12836"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}