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Does ALS-FUS without FUS mutation represent ALS-FET? Report of three cases.
Borrego-Écija S, Cortés-Vicente E, Cervera-Carles L, Clarimón J, Gámez J, Batlle J, Ricken G, Molina-Porcel L, Aldecoa I, Sánchez-Valle R, Rojas-García R, Gelpi E. Borrego-Écija S, et al. Neuropathol Appl Neurobiol. 2019 Jun;45(4):421-426. doi: 10.1111/nan.12527. Epub 2018 Nov 20. Neuropathol Appl Neurobiol. 2019. PMID: 30375034 Free PMC article. Review. No abstract available.
Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP.
Guerreiro RJ, Baquero M, Blesa R, Boada M, Brás JM, Bullido MJ, Calado A, Crook R, Ferreira C, Frank A, Gómez-Isla T, Hernández I, Lleó A, Machado A, Martínez-Lage P, Masdeu J, Molina-Porcel L, Molinuevo JL, Pastor P, Pérez-Tur J, Relvas R, Oliveira CR, Ribeiro MH, Rogaeva E, Sa A, Samaranch L, Sánchez-Valle R, Santana I, Tàrraga L, Valdivieso F, Singleton A, Hardy J, Clarimón J. Guerreiro RJ, et al. Neurobiol Aging. 2010 May;31(5):725-31. doi: 10.1016/j.neurobiolaging.2008.06.012. Epub 2008 Jul 30. Neurobiol Aging. 2010. PMID: 18667258 Free PMC article.
PICOGEN: five years experience with a genetic counselling program for dementia.
Fortea J, Lladó A, Clarimón J, Lleó A, Oliva R, Peri J, Pintor L, Yagüe J, Blesa R, Molinuevo JL, Sánchez-Valle R. Fortea J, et al. Neurologia. 2011 Apr;26(3):143-9. doi: 10.1016/j.nrl.2010.09.011. Epub 2010 Nov 11. Neurologia. 2011. PMID: 21163230 Free article. English, Spanish.
"Preclinical" MSA in definite Creutzfeldt-Jakob disease.
Rodriguez-Diehl R, Rey MJ, Gironell A, Martinez-Saez E, Ferrer I, Sánchez-Valle R, Jagüe J, Nos C, Gelpi E. Rodriguez-Diehl R, et al. Neuropathology. 2012 Apr;32(2):158-63. doi: 10.1111/j.1440-1789.2011.01232.x. Epub 2011 Jun 21. Neuropathology. 2012. PMID: 21692862
Hirano body-rich subtypes of Creutzfeldt-Jakob disease.
Martinez-Saez E, Gelpi E, Rey MJ, Ferrer I, Ribalta T, Botta-Orfila T, Nos C, Yagüe J, Sanchez-Valle R. Martinez-Saez E, et al. Neuropathol Appl Neurobiol. 2012 Apr;38(2):153-61. doi: 10.1111/j.1365-2990.2011.01208.x. Neuropathol Appl Neurobiol. 2012. PMID: 21726270
342 results