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New subtype of spinocerebellar ataxia with altered vertical eye movements mapping to chromosome 1p32.
Serrano-Munuera C, Corral-Juan M, Stevanin G, San Nicolás H, Roig C, Corral J, Campos B, de Jorge L, Morcillo-Suárez C, Navarro A, Forlani S, Durr A, Kulisevsky J, Brice A, Sánchez I, Volpini V, Matilla-Dueñas A. Serrano-Munuera C, et al. Among authors: de jorge l. JAMA Neurol. 2013 Jun;70(6):764-71. doi: 10.1001/jamaneurol.2013.2311. JAMA Neurol. 2013. PMID: 23700170
Heterozygous STUB1 mutation causes familial ataxia with cognitive affective syndrome (SCA48).
Genis D, Ortega-Cubero S, San Nicolás H, Corral J, Gardenyes J, de Jorge L, López E, Campos B, Lorenzo E, Tonda R, Beltran S, Negre M, Obón M, Beltran B, Fàbregas L, Alemany B, Márquez F, Ramió-Torrentà L, Gich J, Volpini V, Pastor P. Genis D, et al. Among authors: de jorge l. Neurology. 2018 Nov 20;91(21):e1988-e1998. doi: 10.1212/WNL.0000000000006550. Epub 2018 Oct 31. Neurology. 2018. PMID: 30381368
Diagnosis of Charcot-Marie-Tooth disease.
Banchs I, Casasnovas C, Albertí A, De Jorge L, Povedano M, Montero J, Martínez-Matos JA, Volpini V. Banchs I, et al. Among authors: de jorge l. J Biomed Biotechnol. 2009;2009:985415. doi: 10.1155/2009/985415. Epub 2009 Oct 8. J Biomed Biotechnol. 2009. PMID: 19826499 Free PMC article. Review.
Managing Clinical Trials for Alzheimer's Disease During the COVID-19 Crisis: Experience at Fundació ACE in Barcelona, Spain.
Abdelnour C, Esteban de Antonio E, Pérez-Cordón A, Lafuente A, Buendía M, Pancho A, Jofresa S, Aguilera N, Ibarria M, Cuevas R, Cañada L, Calvet A, Diego S, González-Pérez A, Orellana A, Montrreal L, de Jorge L, Marquié M, Benaque A, Gurruchaga M, Tárraga L, Ruiz A, Boada M; Research Center and Memory Clinic, Fundació ACE. Abdelnour C, et al. Among authors: de jorge l. J Alzheimers Dis. 2020;77(4):1805-1813. doi: 10.3233/JAD-200750. J Alzheimers Dis. 2020. PMID: 32986671 Free PMC article.