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Page 1
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.
Schlüter A, Vélez-Santamaría V, Verdura E, Rodríguez-Palmero A, Ruiz M, Fourcade S, Planas-Serra L, Launay N, Guilera C, Martínez JJ, Homedes-Pedret C, Albertí-Aguiló MA, Zulaika M, Martí I, Troncoso M, Tomás-Vila M, Bullich G, García-Pérez MA, Sobrido-Gómez MJ, López-Laso E, Fons C, Del Toro M, Macaya A; HSP/ataxia workgroup; Beltran S, Gutiérrez-Solana LG, Pérez-Jurado LA, Aguilera-Albesa S, de Munain AL, Casasnovas C, Pujol A. Schlüter A, et al. Among authors: guilera c. Genome Med. 2023 Sep 7;15(1):68. doi: 10.1186/s13073-023-01214-2. Genome Med. 2023. PMID: 37679823 Free PMC article.
Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization.
Schlüter A, Rodríguez-Palmero A, Verdura E, Vélez-Santamaría V, Ruiz M, Fourcade S, Planas-Serra L, Martínez JJ, Guilera C, Girós M, Artuch R, Yoldi ME, O'Callaghan M, García-Cazorla A, Armstrong J, Marti I, Mondragón Rezola E, Redin C, Mandel JL, Conejo D, Sierra-Córcoles C, Beltrán S, Gut M, Vázquez E, Del Toro M, Troncoso M, Pérez-Jurado LA, Gutiérrez-Solana LG, López de Munain A, Casasnovas C, Aguilera-Albesa S, Macaya A, Pujol A; GWMD working group. Schlüter A, et al. Among authors: guilera c. Neurology. 2022 Mar 1;98(9):e912-e923. doi: 10.1212/WNL.0000000000013278. Epub 2022 Jan 10. Neurology. 2022. PMID: 35012964 Free PMC article.
RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia.
Launay N, Ruiz M, Planas-Serra L, Verdura E, Rodríguez-Palmero A, Schlüter A, Goicoechea L, Guilera C, Casas J, Campelo F, Jouanguy E, Casanova JL, Boespflug-Tanguy O, Vazquez Cancela M, Gutiérrez-Solana LG, Casasnovas C, Area-Gomez E, Pujol A. Launay N, et al. Among authors: guilera c. J Clin Invest. 2023 Jul 17;133(14):e162836. doi: 10.1172/JCI162836. J Clin Invest. 2023. PMID: 37463447 Free PMC article.
Activating cannabinoid receptor 2 preserves axonal health through GSK-3β/NRF2 axis in adrenoleukodystrophy.
Parameswaran J, Goicoechea L, Planas-Serra L, Pastor A, Ruiz M, Calingasan NY, Guilera C, Aso E, Boada J, Pamplona R, Portero-Otín M, de la Torre R, Ferrer I, Casasnovas C, Pujol A, Fourcade S. Parameswaran J, et al. Among authors: guilera c. Acta Neuropathol. 2022 Aug;144(2):241-258. doi: 10.1007/s00401-022-02451-2. Epub 2022 Jul 1. Acta Neuropathol. 2022. PMID: 35778568
Oxidative damage compromises energy metabolism in the axonal degeneration mouse model of X-adrenoleukodystrophy.
Galino J, Ruiz M, Fourcade S, Schlüter A, López-Erauskin J, Guilera C, Jove M, Naudi A, García-Arumí E, Andreu AL, Starkov AA, Pamplona R, Ferrer I, Portero-Otin M, Pujol A. Galino J, et al. Among authors: guilera c. Antioxid Redox Signal. 2011 Oct 15;15(8):2095-107. doi: 10.1089/ars.2010.3877. Epub 2011 Jun 8. Antioxid Redox Signal. 2011. PMID: 21453200 Free PMC article.
Oxidative stress and mitochondrial dynamics malfunction are linked in Pelizaeus-Merzbacher disease.
Ruiz M, Bégou M, Launay N, Ranea-Robles P, Bianchi P, López-Erauskin J, Morató L, Guilera C, Petit B, Vaurs-Barriere C, Guéret-Gonthier C, Bonnet-Dupeyron MN, Fourcade S, Auwerx J, Boespflug-Tanguy O, Pujol A. Ruiz M, et al. Among authors: guilera c. Brain Pathol. 2018 Sep;28(5):611-630. doi: 10.1111/bpa.12571. Epub 2017 Dec 26. Brain Pathol. 2018. PMID: 29027761 Free PMC article.
Valproic acid induces antioxidant effects in X-linked adrenoleukodystrophy.
Fourcade S, Ruiz M, Guilera C, Hahnen E, Brichta L, Naudi A, Portero-Otín M, Dacremont G, Cartier N, Wanders R, Kemp S, Mandel JL, Wirth B, Pamplona R, Aubourg P, Pujol A. Fourcade S, et al. Among authors: guilera c. Hum Mol Genet. 2010 May 15;19(10):2005-14. doi: 10.1093/hmg/ddq082. Epub 2010 Feb 23. Hum Mol Genet. 2010. PMID: 20179078 Clinical Trial.
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