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Page 1
Progressive tetraparesis and bulbar symptoms.
Cunha C, Coimbra de Lemos Queirós H, Almeida M, Pereira D, Freixo JP, Marques P, Matias F, Durães J. Cunha C, et al. Among authors: duraes j. Pract Neurol. 2024 Dec 4:pn-2024-004394. doi: 10.1136/pn-2024-004394. Online ahead of print. Pract Neurol. 2024. PMID: 39631796 No abstract available.
Exploring first-degree family history in a cohort of Portuguese Alzheimer's disease patients: population evidence for X-chromosome linked and recessive inheritance of risk factors.
Tábuas-Pereira M, Bernardes C, Durães J, Lima M, Nogueira AR, Saraiva J, Tábuas T, Coelho M, Paquette K, Westra K, Kun-Rodrigues C, Almeida MR, Baldeiras I, Brás J, Guerreiro R, Santana I. Tábuas-Pereira M, et al. Among authors: duraes j. J Neurol. 2024 Oct;271(10):6983-6990. doi: 10.1007/s00415-024-12673-x. Epub 2024 Sep 5. J Neurol. 2024. PMID: 39235525 Free PMC article.
Long Non-Coding RNA Profile in Genetic Symptomatic and Presymptomatic Frontotemporal Dementia: A GENFI Study.
Serpente M, Fenoglio C, Arcaro M, Carandini T, Sacchi L, Pintus M, Rotondo E, Borracci V, Ghezzi L, Bouzigues A, Russell LL, Foster PH, Ferry-Bolder E, van Swieten JC, Jiskoot LC, Seelaar H, Sánchez Valle R, Laforce R, Graff C, Vandenberghe R, de Mendonça A, Tiraboschi P, Santana I, Gerhard A, Levin J, Sorbi S, Otto M, Pasquier F, Ducharme S, Butler CR, Le Ber I, Finger E, Tartaglia MC, Masellis M, Rowe JB, Synofzik M, Moreno F, Borroni B, Rohrer JD, Arighi A, Galimberti D; Genetic FTD Initiative GENFI. Serpente M, et al. J Alzheimers Dis. 2024;100(s1):S187-S196. doi: 10.3233/JAD-240557. J Alzheimers Dis. 2024. PMID: 39121124 Free PMC article.
A systematic review of progranulin concentrations in biofluids in over 7,000 people-assessing the pathogenicity of GRN mutations and other influencing factors.
Swift IJ, Rademakers R, Finch N, Baker M, Ghidoni R, Benussi L, Binetti G, Rossi G, Synofzik M, Wilke C, Mengel D, Graff C, Takada LT, Sánchez-Valle R, Antonell A, Galimberti D, Fenoglio C, Serpente M, Arcaro M, Schreiber S, Vielhaber S, Arndt P, Santana I, Almeida MR, Moreno F, Barandiaran M, Gabilondo A, Stubert J, Gómez-Tortosa E, Agüero P, Sainz MJ, Gohda T, Murakoshi M, Kamei N, Kittel-Schneider S, Reif A, Weigl J, Jian J, Liu C, Serrero G, Greither T, Theil G, Lohmann E, Gazzina S, Bagnoli S, Coppola G, Bruni A, Quante M, Kiess W, Hiemisch A, Jurkutat A, Block MS, Carlson AM, Bråthen G, Sando SB, Grøntvedt GR, Lauridsen C, Heslegrave A, Heller C, Abel E, Gómez-Núñez A, Puey R, Arighi A, Rotondo E, Jiskoot LC, Meeter LHH, Durães J, Lima M, Tábuas-Pereira M, Lemos J, Boeve B, Petersen RC, Dickson DW, Graff-Radford NR, LeBer I, Sellami L, Lamari F, Clot F, Borroni B, Cantoni V, Rivolta J, Lleó A, Fortea J, Alcolea D, Illán-Gala I, Andres-Cerezo L, Van Damme P, Clarimon J, Steinacker P, Feneberg E, Otto M, van der Ende EL, van Swieten JC, Seelaar H, Zetterberg H, Sogorb-Esteve A, Rohrer JD. Swift IJ, et al. Among authors: duraes j. Alzheimers Res Ther. 2024 Mar 28;16(1):66. doi: 10.1186/s13195-024-01420-z. Alzheimers Res Ther. 2024. PMID: 38539243 Free PMC article.
SQSTM1 Pro392Leu presenting as a corticobasal syndrome with progressive nonfluent aphasia.
Tábuas-Pereira M, Lima M, Bernardes C, Durães J, Duro D, Baldeiras I, Freire-Gonçalves A, Morgadinho A, Santana I, Almeida MR. Tábuas-Pereira M, et al. Among authors: duraes j. Parkinsonism Relat Disord. 2024 Jun;123:106069. doi: 10.1016/j.parkreldis.2024.106069. Epub 2024 Feb 23. Parkinsonism Relat Disord. 2024. PMID: 38493523
Altered plasma protein profiles in genetic FTD - a GENFI study.
Ullgren A, Öijerstedt L, Olofsson J, Bergström S, Remnestål J, van Swieten JC, Jiskoot LC, Seelaar H, Borroni B, Sanchez-Valle R, Moreno F, Laforce R, Synofzik M, Galimberti D, Rowe JB, Masellis M, Tartaglia MC, Finger E, Vandenberghe R, de Mendonça A, Tirabosch P, Santana I, Ducharme S, Butler CR, Gerhard A, Otto M, Bouzigues A, Russell L, Swift IJ, Sogorb-Esteve A, Heller C, Rohrer JD, Månberg A, Nilsson P, Graff C; Genetic Frontotemporal Dementia Initiative (GENFI). Ullgren A, et al. Mol Neurodegener. 2023 Nov 15;18(1):85. doi: 10.1186/s13024-023-00677-6. Mol Neurodegener. 2023. PMID: 37968725 Free PMC article.
66 results