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Page 1
Intermediate repeat expansions of TBP and STUB1: Genetic modifier or pure digenic inheritance in spinocerebellar ataxias?
Barbier M, Davoine CS, Petit E, Porché M, Guillot-Noel L, Sayah S, Fauret AL, Neau JP, Guyant-Maréchal L, Deffond D, Tranchant C, Goizet C, Coarelli G, Castrioto A, Klebe S, Ewenczyk C, Heinzmann A, Charles P, Tchikviladzé M, Van Broeckhoven C, Brice A, Durr A. Barbier M, et al. Among authors: van broeckhoven c. Genet Med. 2023 Feb;25(2):100327. doi: 10.1016/j.gim.2022.10.009. Epub 2022 Nov 23. Genet Med. 2023. PMID: 36422518 Free article.
A large-scale genetic association study to evaluate the contribution of Omi/HtrA2 (PARK13) to Parkinson's disease.
Krüger R, Sharma M, Riess O, Gasser T, Van Broeckhoven C, Theuns J, Aasly J, Annesi G, Bentivoglio AR, Brice A, Djarmati A, Elbaz A, Farrer M, Ferrarese C, Gibson JM, Hadjigeorgiou GM, Hattori N, Ioannidis JP, Jasinska-Myga B, Klein C, Lambert JC, Lesage S, Lin JJ, Lynch T, Mellick GD, de Nigris F, Opala G, Prigione A, Quattrone A, Ross OA, Satake W, Silburn PA, Tan EK, Toda T, Tomiyama H, Wirdefeldt K, Wszolek Z, Xiromerisiou G, Maraganore DM; Genetic Epidemiology of Parkinson's disease consortium. Krüger R, et al. Among authors: van broeckhoven c. Neurobiol Aging. 2011 Mar;32(3):548.e9-18. doi: 10.1016/j.neurobiolaging.2009.11.021. Epub 2009 Dec 24. Neurobiol Aging. 2011. PMID: 20036034 Free PMC article.
Correction to: Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins.
Mori K, Arzberger T, Grässer FA, Gijselinck I, May S, Rentzsch K, Weng SM, Schludi MH, van der Zee J, Cruts M, Van Broeckhoven C, Kremmer E, Kretzschmar HA, Haass C, Edbauer D. Mori K, et al. Among authors: van broeckhoven c. Acta Neuropathol. 2024 Oct 5;148(1):48. doi: 10.1007/s00401-024-02806-x. Acta Neuropathol. 2024. PMID: 39367895 No abstract available.
The SORL1 p.Y1816C variant causes impaired endosomal dimerization and autosomal dominant Alzheimer's disease.
Jensen AMG, Raska J, Fojtik P, Monti G, Lunding M, Bartova S, Pospisilova V, van der Lee SJ, Van Dongen J, Bossaerts L, Van Broeckhoven C, Dols-Icardo O, Lléo A, Bellini S, Ghidoni R, Hulsman M, Petsko GA, Sleegers K, Bohaciakova D, Holstege H, Andersen OM. Jensen AMG, et al. Among authors: van broeckhoven c. Proc Natl Acad Sci U S A. 2024 Sep 10;121(37):e2408262121. doi: 10.1073/pnas.2408262121. Epub 2024 Sep 3. Proc Natl Acad Sci U S A. 2024. PMID: 39226352
Genome-wide analyses reveal a potential role for the MAPT, MOBP, and APOE loci in sporadic frontotemporal dementia.
Manzoni C, Kia DA, Ferrari R, Leonenko G, Costa B, Saba V, Jabbari E, Tan MM, Albani D, Alvarez V, Alvarez I, Andreassen OA, Angiolillo A, Arighi A, Baker M, Benussi L, Bessi V, Binetti G, Blackburn DJ, Boada M, Boeve BF, Borrego-Ecija S, Borroni B, Bråthen G, Brooks WS, Bruni AC, Caroppo P, Bandres-Ciga S, Clarimon J, Colao R, Cruchaga C, Danek A, de Boer SC, de Rojas I, di Costanzo A, Dickson DW, Diehl-Schmid J, Dobson-Stone C, Dols-Icardo O, Donizetti A, Dopper E, Durante E, Ferrari C, Forloni G, Frangipane F, Fratiglioni L, Kramberger MG, Galimberti D, Gallucci M, García-González P, Ghidoni R, Giaccone G, Graff C, Graff-Radford NR, Grafman J, Halliday GM, Hernandez DG, Hjermind LE, Hodges JR, Holloway G, Huey ED, Illán-Gala I, Josephs KA, Knopman DS, Kristiansen M, Kwok JB, Leber I, Leonard HL, Libri I, Lleo A, Mackenzie IR, Madhan GK, Maletta R, Marquié M, Maver A, Menendez-Gonzalez M, Milan G, Miller BL, Morris CM, Morris HR, Nacmias B, Newton J, Nielsen JE, Nilsson C, Novelli V, Padovani A, Pal S, Pasquier F, Pastor P, Perneczky R, Peterlin B, Petersen RC, Piguet O, Pijnenburg YA, Puca AA, Rademakers R, Rainero I, Reus LM, Richardson AM, Riemenschneider M, Rogaeva E, Rogelj… See abstract for full author list ➔ Manzoni C, et al. Among authors: van broeckhoven c. Am J Hum Genet. 2024 Jul 11;111(7):1316-1329. doi: 10.1016/j.ajhg.2024.05.017. Epub 2024 Jun 17. Am J Hum Genet. 2024. PMID: 38889728 Free PMC article.
Subclinical epileptiform activity in the Alzheimer continuum: association with disease, cognition and detection method.
Nous A, Seynaeve L, Feys O, Wens V, De Tiège X, Van Mierlo P, Baroumand AG, Nieboer K, Allemeersch GJ, Mangelschots S, Michiels V, van der Zee J, Van Broeckhoven C, Ribbens A, Houbrechts R, De Witte S, Wittens MMJ, Bjerke M, Vanlersberghe C, Ceyssens S, Nagels G, Smolders I, Engelborghs S. Nous A, et al. Among authors: van broeckhoven c. Alzheimers Res Ther. 2024 Jan 23;16(1):19. doi: 10.1186/s13195-023-01373-9. Alzheimers Res Ther. 2024. PMID: 38263073 Free PMC article.
Multivariate GWAS of Alzheimer's disease CSF biomarker profiles implies GRIN2D in synaptic functioning.
Neumann A, Ohlei O, Küçükali F, Bos IJ, Timsina J, Vos S, Prokopenko D, Tijms BM, Andreasson U, Blennow K, Vandenberghe R, Scheltens P, Teunissen CE, Engelborghs S, Frisoni GB, Blin O, Richardson JC, Bordet R, Lleó A, Alcolea D, Popp J, Marsh TW, Gorijala P, Clark C, Peyratout G, Martinez-Lage P, Tainta M, Dobson RJB, Legido-Quigley C, Van Broeckhoven C, Tanzi RE, Ten Kate M, Lill CM, Barkhof F, Cruchaga C, Lovestone S, Streffer J, Zetterberg H, Visser PJ, Sleegers K, Bertram L; EMIF-AD & ADNI study group. Neumann A, et al. Among authors: van broeckhoven c. Genome Med. 2023 Oct 4;15(1):79. doi: 10.1186/s13073-023-01233-z. Genome Med. 2023. PMID: 37794492 Free PMC article.
Mutated Toll-like receptor 9 increases Alzheimer's disease risk by compromising innate immunity protection.
Cacace R, Zhou L, Hendrickx Van de Craen E, Buist A, Hoogmartens J, Sieben A, Cras P, Vandenberghe R, De Deyn PP, Oehlrich D, De Bondt A, Engelborghs S, Moechars D, Van Broeckhoven C. Cacace R, et al. Among authors: van broeckhoven c. Mol Psychiatry. 2023 Dec;28(12):5380-5389. doi: 10.1038/s41380-023-02166-0. Epub 2023 Jul 11. Mol Psychiatry. 2023. PMID: 37433968 Free PMC article.
Author Correction: Common variants in Alzheimer's disease and risk stratification by polygenic risk scores.
de Rojas I, Moreno-Grau S, Tesi N, Grenier-Boley B, Andrade V, Jansen IE, Pedersen NL, Stringa N, Zettergren A, Hernández I, Montrreal L, Antúnez C, Antonell A, Tankard RM, Bis JC, Sims R, Bellenguez C, Quintela I, González-Perez A, Calero M, Franco-Macías E, Macías J, Blesa R, Cervera-Carles L, Menéndez-González M, Frank-García A, Royo JL, Moreno F, Huerto Vilas R, Baquero M, Diez-Fairen M, Lage C, García-Madrona S, García-González P, Alarcón-Martín E, Valero S, Sotolongo-Grau O, Ullgren A, Naj AC, Lemstra AW, Benaque A, Pérez-Cordón A, Benussi A, Rábano A, Padovani A, Squassina A, de Mendonça A, Arias Pastor A, Kok AAL, Meggy A, Pastor AB, Espinosa A, Corma-Gómez A, Martín Montes A, Sanabria Á, DeStefano AL, Schneider A, Haapasalo A, Kinhult Ståhlbom A, Tybjærg-Hansen A, Hartmann AM, Spottke A, Corbatón-Anchuelo A, Rongve A, Borroni B, Arosio B, Nacmias B, Nordestgaard BG, Kunkle BW, Charbonnier C, Abdelnour C, Masullo C, Martínez Rodríguez C, Muñoz-Fernandez C, Dufouil C, Graff C, Ferreira CB, Chillotti C, Reynolds CA, Fenoglio C, Van Broeckhoven C, Clark C, Pisanu C, Satizabal CL, Holmes C, Buiza-Rueda D, Aarsland D, Rujescu D, Alcolea D, Galimberti D, Wallon D, Seripa … See abstract for full author list ➔ de Rojas I, et al. Among authors: van broeckhoven c. Nat Commun. 2023 Feb 9;14(1):716. doi: 10.1038/s41467-023-36192-x. Nat Commun. 2023. PMID: 36759603 Free PMC article. No abstract available.
779 results