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Page 1
Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome, caused by variants in the CTCF gene.
Karimi K, Mol MO, Haghshenas S, Relator R, Levy MA, Kerkhof J, McConkey H, Brooks A, Zonneveld-Huijssoon E, Gerkes EH, Tedder ML, Vissers L, Salzano E, Piccione M, Asaftei SD, Carli D, Mussa A, Shukarova-Angelovska E, Trajkova S, Brusco A, Merla G, Alders MM, Bouman A, Sadikovic B. Karimi K, et al. Among authors: mol mo. Genet Med. 2024 Mar;26(3):101041. doi: 10.1016/j.gim.2023.101041. Epub 2023 Dec 3. Genet Med. 2024. PMID: 38054406
New insights into the genetic etiology of Alzheimer's disease and related dementias.
Bellenguez C, Küçükali F, Jansen IE, Kleineidam L, Moreno-Grau S, Amin N, Naj AC, Campos-Martin R, Grenier-Boley B, Andrade V, Holmans PA, Boland A, Damotte V, van der Lee SJ, Costa MR, Kuulasmaa T, Yang Q, de Rojas I, Bis JC, Yaqub A, Prokic I, Chapuis J, Ahmad S, Giedraitis V, Aarsland D, Garcia-Gonzalez P, Abdelnour C, Alarcón-Martín E, Alcolea D, Alegret M, Alvarez I, Álvarez V, Armstrong NJ, Tsolaki A, Antúnez C, Appollonio I, Arcaro M, Archetti S, Pastor AA, Arosio B, Athanasiu L, Bailly H, Banaj N, Baquero M, Barral S, Beiser A, Pastor AB, Below JE, Benchek P, Benussi L, Berr C, Besse C, Bessi V, Binetti G, Bizarro A, Blesa R, Boada M, Boerwinkle E, Borroni B, Boschi S, Bossù P, Bråthen G, Bressler J, Bresner C, Brodaty H, Brookes KJ, Brusco LI, Buiza-Rueda D, Bûrger K, Burholt V, Bush WS, Calero M, Cantwell LB, Chene G, Chung J, Cuccaro ML, Carracedo Á, Cecchetti R, Cervera-Carles L, Charbonnier C, Chen HH, Chillotti C, Ciccone S, Claassen JAHR, Clark C, Conti E, Corma-Gómez A, Costantini E, Custodero C, Daian D, Dalmasso MC, Daniele A, Dardiotis E, Dartigues JF, de Deyn PP, de Paiva Lopes K, de Witte LD, Debette S, Deckert J, Del Ser T, Denning N, DeStefano A, Dichgans M,… See abstract for full author list ➔ Bellenguez C, et al. Nat Genet. 2022 Apr;54(4):412-436. doi: 10.1038/s41588-022-01024-z. Epub 2022 Apr 4. Nat Genet. 2022. PMID: 35379992 Free PMC article.
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, Bossù P, Bouwman F, Bras J, Campion D, Cochran JN, Daniele A, Dartigues JF, Debette S, Deleuze JF, Denning N, DeStefano AL, Farrer LA, Fernández 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, Lleó 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, W… See abstract for full author list ➔ Holstege H, et al. Among authors: mol mo. Nat Genet. 2022 Dec;54(12):1786-1794. doi: 10.1038/s41588-022-01208-7. Epub 2022 Nov 21. Nat Genet. 2022. PMID: 36411364 Free PMC article.
Novel TUBA4A Variant Associated With Familial Frontotemporal Dementia.
Mol MO, Wong TH, Melhem S, Basu S, Viscusi R, Galjart N, Rozemuller AJM, Fallini C, Landers JE, Kaat LD, Seelaar H, van Rooij JGJ, van Swieten JC. Mol MO, et al. Neurol Genet. 2021 May 18;7(3):e596. doi: 10.1212/NXG.0000000000000596. eCollection 2021 Jun. Neurol Genet. 2021. PMID: 34169147 Free PMC article.
Somatic TARDBP variants as a cause of semantic dementia.
van Rooij J, Mol MO, Melhem S, van der Wal P, Arp P, Paron F, Donker Kaat L, Seelaar H; Netherlands Brain Bank; Miedema SSM, Oshima T, Eggen BJL, Uitterlinden A, van Meurs J, van Kesteren RE, Smit AB, Buratti E, van Swieten JC. van Rooij J, et al. Among authors: mol mo. Brain. 2020 Dec 1;143(12):3827-3841. doi: 10.1093/brain/awaa317. Brain. 2020. PMID: 33155043 Free PMC article.
Distinct cell type-specific protein signatures in GRN and MAPT genetic subtypes of frontotemporal dementia.
Miedema SSM, Mol MO, Koopmans FTW, Hondius DC, van Nierop P, Menden K, de Veij Mestdagh CF, van Rooij J, Ganz AB, Paliukhovich I, Melhem S, Li KW, Holstege H, Rizzu P, van Kesteren RE, van Swieten JC, Heutink P, Smit AB. Miedema SSM, et al. Among authors: mol mo. Acta Neuropathol Commun. 2022 Jul 7;10(1):100. doi: 10.1186/s40478-022-01387-8. Acta Neuropathol Commun. 2022. PMID: 35799292 Free PMC article.
Distinctive pattern of temporal atrophy in patients with frontotemporal dementia and the I383V variant in TARDBP.
Mol MO, Nijmeijer SWR, van Rooij JGJ, van Spaendonk RML, Pijnenburg YAL, van der Lee SJ, van Minkelen R, Donker Kaat L, Rozemuller AJM, Janse van Mantgem MR, van Rheenen W, van Es MA, Veldink JH, Hennekam FAM, Vernooij M, van Swieten JC, Cohn-Hokke PE, Seelaar H, Dopper EGP. Mol MO, et al. J Neurol Neurosurg Psychiatry. 2021 Jul;92(7):787-789. doi: 10.1136/jnnp-2020-325150. Epub 2021 Jan 15. J Neurol Neurosurg Psychiatry. 2021. PMID: 33452055 Free PMC article. No abstract available.
29 results