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PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology.
Wong TH, Chiu WZ, Breedveld GJ, Li KW, Verkerk AJ, Hondius D, Hukema RK, Seelaar H, Frick P, Severijnen LA, Lammers GJ, Lebbink JH, van Duinen SG, Kamphorst W, Rozemuller AJ; Netherlands Brain Bank; Bakker EB; International Parkinsonism Genetics Network; Neumann M, Willemsen R, Bonifati V, Smit AB, van Swieten J. Wong TH, et al. Among authors: smit ab. Brain. 2014 May;137(Pt 5):1361-73. doi: 10.1093/brain/awu067. Epub 2014 Apr 9. Brain. 2014. PMID: 24722252
APOE ε4 genotype-dependent cerebrospinal fluid proteomic signatures in Alzheimer's disease.
Konijnenberg E, Tijms BM, Gobom J, Dobricic V, Bos I, Vos S, Tsolaki M, Verhey F, Popp J, Martinez-Lage P, Vandenberghe R, Lleó A, Frölich L, Lovestone S, Streffer J, Bertram L, Blennow K, Teunissen CE, Veerhuis R, Smit AB, Scheltens P, Zetterberg H, Visser PJ. Konijnenberg E, et al. Among authors: smit ab. Alzheimers Res Ther. 2020 May 27;12(1):65. doi: 10.1186/s13195-020-00628-z. Alzheimers Res Ther. 2020. PMID: 32460813 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: smit ab. Brain. 2020 Dec 1;143(12):3827-3841. doi: 10.1093/brain/awaa317. Brain. 2020. PMID: 33155043 Free PMC article.
387 results