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Page 1
[DNA diagnostics in dementia].
Aalfs CM, Vervenne-van Spaendonk R, Pijnenburg YAL, Cohn-Hokke PE, Meijers HJ, Scheltens P. Aalfs CM, et al. Among authors: cohn hokke pe. Ned Tijdschr Geneeskd. 2017;161:D1774. Ned Tijdschr Geneeskd. 2017. PMID: 28936933 Review. Dutch.
Update on Kleefstra Syndrome.
Willemsen MH, Vulto-van Silfhout AT, Nillesen WM, Wissink-Lindhout WM, van Bokhoven H, Philip N, Berry-Kravis EM, Kini U, van Ravenswaaij-Arts CM, Delle Chiaie B, Innes AM, Houge G, Kosonen T, Cremer K, Fannemel M, Stray-Pedersen A, Reardon W, Ignatius J, Lachlan K, Mircher C, Helderman van den Enden PT, Mastebroek M, Cohn-Hokke PE, Yntema HG, Drunat S, Kleefstra T. Willemsen MH, et al. Among authors: cohn hokke pe. Mol Syndromol. 2012 Apr;2(3-5):202-212. doi: 10.1159/000335648. Epub 2012 Jan 24. Mol Syndromol. 2012. PMID: 22670141 Free PMC article.
Genetics of dementia: update and guidelines for the clinician.
Cohn-Hokke PE, Elting MW, Pijnenburg YA, van Swieten JC. Cohn-Hokke PE, et al. Am J Med Genet B Neuropsychiatr Genet. 2012 Sep;159B(6):628-43. doi: 10.1002/ajmg.b.32080. Epub 2012 Jul 19. Am J Med Genet B Neuropsychiatr Genet. 2012. PMID: 22815225 Review.
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. Among authors: cohn hokke pe. 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.
The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions.
Simón-Sánchez J, Dopper EG, Cohn-Hokke PE, Hukema RK, Nicolaou N, Seelaar H, de Graaf JR, de Koning I, van Schoor NM, Deeg DJ, Smits M, Raaphorst J, van den Berg LH, Schelhaas HJ, De Die-Smulders CE, Majoor-Krakauer D, Rozemuller AJ, Willemsen R, Pijnenburg YA, Heutink P, van Swieten JC. Simón-Sánchez J, et al. Among authors: cohn hokke pe. Brain. 2012 Mar;135(Pt 3):723-35. doi: 10.1093/brain/awr353. Epub 2012 Feb 1. Brain. 2012. PMID: 22300876
Rare Genetic Variant in SORL1 May Increase Penetrance of Alzheimer's Disease in a Family with Several Generations of APOE-ɛ4 Homozygosity.
Louwersheimer E, Cohn-Hokke PE, Pijnenburg YA, Weiss MM, Sistermans EA, Rozemuller AJ, Hulsman M, van Swieten JC, van Duijn CM, Barkhof F, Koene T, Scheltens P, Van der Flier WM, Holstege H. Louwersheimer E, et al. Among authors: cohn hokke pe. J Alzheimers Dis. 2017;56(1):63-74. doi: 10.3233/JAD-160091. J Alzheimers Dis. 2017. PMID: 27911290 Free PMC article.