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A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity.
van der Lee SJ, Conway OJ, Jansen I, Carrasquillo MM, Kleineidam L, van den Akker E, Hernández I, van Eijk KR, Stringa N, Chen JA, Zettergren A, Andlauer TFM, Diez-Fairen M, Simon-Sanchez J, Lleó A, Zetterberg H, Nygaard M, Blauwendraat C, Savage JE, Mengel-From J, Moreno-Grau S, Wagner M, Fortea J, Keogh MJ, Blennow K, Skoog I, Friese MA, Pletnikova O, Zulaica M, Lage C, de Rojas I, Riedel-Heller S, Illán-Gala I, Wei W, Jeune B, Orellana A, Then Bergh F, Wang X, Hulsman M, Beker N, Tesi N, Morris CM, Indakoetxea B, Collij LE, Scherer M, Morenas-Rodríguez E, Ironside JW, van Berckel BNM, Alcolea D, Wiendl H, Strickland SL, Pastor P, Rodríguez Rodríguez E; DESGESCO (Dementia Genetics Spanish Consortium), EADB (Alzheimer Disease European DNA biobank); EADB (Alzheimer Disease European DNA biobank); IFGC (International FTD-Genomics Consortium), IPDGC (The International Parkinson Disease Genomics Consortium); IPDGC (The International Parkinson Disease Genomics Consortium); RiMod-FTD (Risk and Modifying factors in Fronto-Temporal Dementia); Netherlands Brain Bank (NBB), Boeve BF, Petersen RC, Ferman TJ, van Gerpen JA, Reinders MJT, Uitti RJ, Tárraga L, Maier W, Dols-Icardo O, Kawalia A, Dalmasso MC, Boada M, Zettl UK, van Schoor NM, Beekman M, Allen M, Masliah E, de Munain AL, Pantelyat A, Wszolek ZK, Ross OA, Dickson DW, Graff-Radford NR, Knopman D, Rademakers R, Lemstra AW, Pijnenburg YAL, Scheltens P, Gasser T, Chinnery PF, Hemmer B, Huisman MA, Troncoso J, Moreno F, Nohr EA, Sørensen TIA, Heutink P, Sánchez-Juan P, Posthuma D; GIFT (Genetic Investigation in Frontotemporal Dementia and Alzheimer’s Disease) Study Group, Clarimón J, Christensen K, Ertekin-Taner N, Scholz SW, Ramirez A, Ruiz A, Slagboom E, van der Flier WM, Holstege H. van der Lee SJ, et al. Among authors: collij le. Acta Neuropathol. 2019 Aug;138(2):237-250. doi: 10.1007/s00401-019-02026-8. Epub 2019 May 27. Acta Neuropathol. 2019. PMID: 31131421 Free PMC article.
Amyloid-β PET and CSF in an autopsy-confirmed cohort.
Reimand J, Boon BDC, Collij LE, Teunissen CE, Rozemuller AJM, van Berckel BNM, Scheltens P, Ossenkoppele R, Bouwman F. Reimand J, et al. Among authors: collij le. Ann Clin Transl Neurol. 2020 Nov;7(11):2150-2160. doi: 10.1002/acn3.51195. Epub 2020 Oct 20. Ann Clin Transl Neurol. 2020. PMID: 33080124 Free PMC article.
Multitracer model for staging cortical amyloid deposition using PET imaging.
Collij LE, Heeman F, Salvadó G, Ingala S, Altomare D, de Wilde A, Konijnenberg E, van Buchem M, Yaqub M, Markiewicz P, Golla SSV, Wottschel V, Wink AM, Visser PJ, Teunissen CE, Lammertsma AA, Scheltens P, van der Flier WM, Boellaard R, van Berckel BNM, Molinuevo JL, Gispert JD, Schmidt ME, Barkhof F, Lopes Alves I; ALFA Study, for the Alzheimer's Disease Neuroimaging Initiative; AMYPAD Consortium. Collij LE, et al. Neurology. 2020 Sep 15;95(11):e1538-e1553. doi: 10.1212/WNL.0000000000010256. Epub 2020 Jul 16. Neurology. 2020. PMID: 32675080 Free PMC article.
Quantitative amyloid PET in Alzheimer's disease: the AMYPAD prognostic and natural history study.
Lopes Alves I, Collij LE, Altomare D, Frisoni GB, Saint-Aubert L, Payoux P, Kivipelto M, Jessen F, Drzezga A, Leeuwis A, Wink AM, Visser PJ, van Berckel BNM, Scheltens P, Gray KR, Wolz R, Stephens A, Gismondi R, Buckely C, Gispert JD, Schmidt M, Ford L, Ritchie C, Farrar G, Barkhof F, Molinuevo JL; AMYPAD Consortium. Lopes Alves I, et al. Among authors: collij le. Alzheimers Dement. 2020 May;16(5):750-758. doi: 10.1002/alz.12069. Epub 2020 Apr 12. Alzheimers Dement. 2020. PMID: 32281303 Free PMC article.
Correction to: A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity.
van der Lee SJ, Conway OJ, Jansen I, Carrasquillo MM, Kleineidam L, van den Akker E, Hernández I, van Eijk KR, Stringa N, Chen JA, Zettergren A, Andlauer TFM, Diez-Fairen M, Simon-Sanchez J, Lleó A, Zetterberg H, Nygaard M, Blauwendraat C, Savage JE, Mengel-From J, Moreno-Grau S, Wagner M, Fortea J, Keogh MJ, Blennow K, Skoog I, Friese MA, Pletnikova O, Zulaica M, Lage C, de Rojas I, Riedel-Heller S, Illán-Gala I, Wei W, Jeune B, Orellana A, Then Bergh F, Wang X, Hulsman M, Beker N, Tesi N, Morris CM, Indakoetxea B, Collij LE, Scherer M, Morenas-Rodríguez E, Ironside JW, van Berckel BNM, Alcolea D, Wiendl H, Strickland SL, Pastor P, Rodríguez Rodríguez E; DESGESCO (Dementia Genetics Spanish Consortium); EADB (Alzheimer Disease European DNA biobank); IFGC (International FTD-Genomics Consortium); IPDGC (The International Parkinson Disease Genomics Consortium); RiMod-FTD (Risk and Modifying factors in Fronto-Temporal Dementia); Netherlands Brain Bank (NBB), Boeve BF, Petersen RC, Ferman TJ, van Gerpen JA, Reinders MJT, Uitti RJ, Tárraga L, Maier W, Dols-Icardo O, Kawalia A, Dalmasso MC, Boada M, Zettl UK, van Schoor NM, Beekman M, Allen M, Masliah E, de Munain AL, Pantelyat A, Wszolek ZK, Ross OA, Dickson DW, Graff-Radford NR, Knopman D, Rademakers R, Lemstra AW, Pijnenburg YAL, Scheltens P, Gasser T, Chinnery PF, Hemmer B, Huisman MA, Troncoso J, Moreno F, Nohr EA, Sørensen TIA, Heutink P, Sánchez-Juan P, Posthuma D; GIFT (Genetic Investigation in Frontotemporal Dementia and Alzheimer’s Disease) Study Group, Clarimón J, Christensen K, Ertekin-Taner N, Scholz SW, Ramirez A, Ruiz A, Slagboom E, van der Flier WM, Holstege H. van der Lee SJ, et al. Among authors: collij le. Acta Neuropathol. 2020 May;139(5):959-962. doi: 10.1007/s00401-019-02107-8. Acta Neuropathol. 2020. PMID: 31955222 Free PMC article.
Assessing Amyloid Pathology in Cognitively Normal Subjects Using 18F-Flutemetamol PET: Comparing Visual Reads and Quantitative Methods.
Collij LE, Konijnenberg E, Reimand J, Kate MT, Braber AD, Lopes Alves I, Zwan M, Yaqub M, van Assema DME, Wink AM, Lammertsma AA, Scheltens P, Visser PJ, Barkhof F, van Berckel BNM. Collij LE, et al. J Nucl Med. 2019 Apr;60(4):541-547. doi: 10.2967/jnumed.118.211532. Epub 2018 Oct 12. J Nucl Med. 2019. PMID: 30315145 Free PMC article.
Strategies to reduce sample sizes in Alzheimer's disease primary and secondary prevention trials using longitudinal amyloid PET imaging.
Lopes Alves I, Heeman F, Collij LE, Salvadó G, Tolboom N, Vilor-Tejedor N, Markiewicz P, Yaqub M, Cash D, Mormino EC, Insel PS, Boellaard R, van Berckel BNM, Lammertsma AA, Barkhof F, Gispert JD. Lopes Alves I, et al. Among authors: collij le. Alzheimers Res Ther. 2021 Apr 19;13(1):82. doi: 10.1186/s13195-021-00819-2. Alzheimers Res Ther. 2021. PMID: 33875021 Free PMC article.
White matter microstructure disruption in early stage amyloid pathology.
Collij LE, Ingala S, Top H, Wottschel V, Stickney KE, Tomassen J, Konijnenberg E, Ten Kate M, Sudre C, Lopes Alves I, Yaqub MM, Wink AM, Van 't Ent D, Scheltens P, van Berckel BNM, Visser PJ, Barkhof F, Braber AD. Collij LE, et al. Alzheimers Dement (Amst). 2021 Apr 1;13(1):e12124. doi: 10.1002/dad2.12124. eCollection 2021. Alzheimers Dement (Amst). 2021. PMID: 33816751 Free PMC article.
Visual assessment of [18F]flutemetamol PET images can detect early amyloid pathology and grade its extent.
Collij LE, Salvadó G, Shekari M, Lopes Alves I, Reimand J, Wink AM, Zwan M, Niñerola-Baizán A, Perissinotti A, Scheltens P, Ikonomovic MD, Smith APL, Farrar G, Molinuevo JL, Barkhof F, Buckley CJ, van Berckel BNM, Gispert JD; ALFA study; AMYPAD consortium. Collij LE, et al. Eur J Nucl Med Mol Imaging. 2021 Jul;48(7):2169-2182. doi: 10.1007/s00259-020-05174-2. Epub 2021 Feb 22. Eur J Nucl Med Mol Imaging. 2021. PMID: 33615397 Free PMC article.