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01/02/2025
Agreement of cerebrospinal fluid biomarkers and amyloid-PET in a multicenter study
Guillén, N, Contador, J, Buongiorno, M, Alvarez, I, Culell, N, Alcolea, D, Lleó, A, Fortea, J, Piñol-Ripoll, G, Carnes-Vendrell, A, Ispierto, ML, Vilas, D, Puig-Pijoan, A, Fernández-Lebrero, A, Balasa, M, Sánchez-Valle, R, Lladó, A. Agreement of cerebrospinal fluid biomarkers and amyloid-PET in a multicenter study. EUROPEAN ARCHIVES OF PSYCHIATRY AND CLINICAL NEUROSCIENCE. 2025; 275(1)DOI:10.1007/s00406-023-01701-y. PMID:37898567. IF:3.700(Q1/3D).
01/02/2025
Identification of a pathogenic mutation in ARPP21 in patients with amyotrophic lateral sclerosis
Dols-Icardo, O, Carbayo, A, Jericó, I, Blasco-Martínez, O, Alvarez-Sánchez, E, Pérez, MAL, Bernal, S, Rodríguez-Santiago, B, Cusco, I, Turon-Sans, J, Cabezas-Torres, M, Caballero-Avila, M, Vesperinas, A, Llansó, L, Pagola-Lorz, I, Torné, L, Valle-Tamayo, N, Muñoz, L, Rubio-Guerra, S, Illán-Gala, I, Cortés-Vicente, E, Gelpi, E, Rojas-García, R. Identification of a pathogenic mutation in ARPP21 in patients with amyotrophic lateral sclerosis. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. 2025; 96(2)DOI:10.1136/jnnp-2024-333834. PMID:38960585. IF:7.500(Q1/1D).
23/09/2024
Alzheimer Dementia Among Individuals With Down Syndrome
Rubenstein, E, Tewolde, S, Michals, A, Weuve, J, Fortea, J, Fox, MP, Jimenez, MP, Scott, A, Tripodis, Y, Skotko, BG. Alzheimer Dementia Among Individuals With Down Syndrome. JAMA Network Open. 2024; 7(9)DOI:10.1001/jamanetworkopen.2024.35018. PMID:39312235. IF:9.700(Q1/1D).
25/06/2024
Occurrence of mosaic Down syndrome and prevalence of co-occurring conditions in Medicaid enrolled adults, 2016-2019
Rubenstein, E, Tewolde, S, Skotko, BG, Michals, A, Fortea, J. Occurrence of mosaic Down syndrome and prevalence of co-occurring conditions in Medicaid enrolled adults, 2016-2019. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS. 2024; 196(4)DOI:10.1002/ajmg.c.32097. PMID:38925597. IF:4.400(Q1/2D).