Search
01/01/2023
Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen
Trifunov S., Natera-De Benito D., Carrera-García L., Codina A., Expósito-Escudero J., Ortez C., Medina J., Alcala, ST, Bernal S., Alias L., Badosa C., Balsells S., Alcolea D., Nascimento A., Jimenez-Mallebrera C.. Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen. Journal Of Neuromuscular Diseases. 2023; 10(4)DOI:10.3233/JND-230012. PMID:37038823. IF:3.200(Q2/3D).
01/01/2023
Innovating Therapies for Down Syndrome: An International Virtual Conference of the T21 Research Society
Hamlett E.D., Flores-Aguilar L., Handen B., Potier M.-C., Granholm A.-C., Sherman S., Puig V., Santoro J.D., Carmona-Iragui M., Rebillat A.-S., Head E., Strydom A., Busciglio J.. Innovating Therapies for Down Syndrome: An International Virtual Conference of the T21 Research Society. Molecular Syndromology. 2023; 14(2)DOI:10.1159/000526021. PMID:37064334. IF:0.900(Q4/10D).
01/01/2023
Multifocal Transcranial Direct Current Stimulation in Primary Progressive Aphasia Does Not Provide a Clinical Benefit Over Speech Therapy
Borrego-Écija S., Montagut N., Martín-Trias P., Vaqué-Alcázar L., Illán-Gala I., Balasa M., Lladó A., Casanova-Mollà J., Bargalló N., Valls-Solé J., Lleó A., Bartrés-Faz D., Sánchez-Valle R.. Multifocal Transcranial Direct Current Stimulation in Primary Progressive Aphasia Does Not Provide a Clinical Benefit Over Speech Therapy. JOURNAL OF ALZHEIMERS DISEASE. 2023; 93(3)DOI:10.3233/JAD-230069. PMID:37182884. IF:3.400(Q2/4D).
01/01/2023
Compounded inequality: racial disparity and Down syndrome
McGlinchey E., Iulita M.F., Fortea J.. Compounded inequality: racial disparity and Down syndrome. Lancet Public Health. 2023; 8(11)DOI:10.1016/S2468-2667(23)00213-X. PMID:. IF:(Q/D).
01/01/2023
Bilingual Primary Progressive Aphasia: A Scoping Review of Assessment and Treatment Practices
Grasso, SM, Rodríguez, CAW, Colomer, NM, Kiderle, SKM, Sáanchez-Valle, R, Santos, MAS. Bilingual Primary Progressive Aphasia: A Scoping Review of Assessment and Treatment Practices. JOURNAL OF ALZHEIMERS DISEASE. 2023; 96(4)DOI:10.3233/JAD-230673. PMID:37980666. IF:3.400(Q2/4D).
01/12/2022
Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease
Holstege, H, Hulsman, M, Charbonnier, C, Grenier-Boley, B, Quenez, O, Grozeva, D, van Rooij, JGJ, Sims, R, Ahmad, S, Amin, N, Norsworthy, PJ, Dols-Icardo, O, Hummerich, H, Kawalia, A, Amouyel, P, Beecham, GW, Berr, C, Bis, JC, Boland, A, Bossu, P, Bouwman, F, Bras, J, Campion, D, Cochran, JN, Daniele, A, Dartigues, JF, Debette, S, Deleuze, JF, Denning, N, DeStefano, AL, Farrer, LA, Fernandez, MV, Fox, NC, Galimberti, D, Genin, E, Gille, JJP, Le Guen, Y, Guerreiro, R, Haines, JL, Holmes, C, Ikram, MA, Ikram, MK, Jansen, IE, Kraaij, R, Lathrop, M, Lemstra, AW, Lleo, A, Luckcuck, L, Mannens, MMAM, Marshall, R, Martin, ER, Masullo, C, Mayeux, R, Mecocci, P, Meggy, A, Mol, MO, Morgan, K, Myers, RM, Nacmias, B, Naj, AC, Napolioni, V, Pasquier, F, Pastor, P, Pericak-Vance, MA, Raybould, R, Redon, R, Reinders, MJT, Richard, AC, Riedel-Heller, SG, Rivadeneira, F, Rousseau, S, Ryan, NS, Saad, S, Sanchez-Juan, P, Schellenberg, GD, Scheltens, P, Schott, JM, Seripa, D, Seshadri, S, Sie, D, Sistermans, EA, Sorbi, S, van Spaendonk, R, Spalletta, G, Tesi, N, Tijms, B, Uitterlinden, AG, van der Lee, SJ, Visser, PJ, Wagner, M, Wallon, D, Wang, LS, Zarea, A, Clarimon, J, van Swieten, JC, Greicius, MD, Yokoyama, JS, Cruchaga, C, Hardy, J, Ramirez, A, Mead, S, van der Flier, WM, van Duijn, CM, Williams, J, Nicolas, G, Bellenguez, C, Lambert, JC. Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease. NATURE GENETICS. 2022; 54(12)DOI:10.1038/s41588-022-01208-7. PMID:36411364. IF:30.800(Q1/1D).