Dementie en erfelijkheid

Autor: Pijnenburg, YAL, Cohn-Hokke, PE, van Swieten, JC

Publikováno v: Nervus, 4
Pijnenburg, YAL, Cohn-Hokke, PE & van Swieten, JC 2016, ' Dementie en erfelijkheid ', Nervus, vol. 4 .

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::e1a6803fd19e8276d65486af553953db
https://research.vumc.nl/en/publications/3af6775b-53e4-46e0-9bfd-cf5cc7d8df25

Distinctive pattern of temporal atrophy in patients with frontotemporal dementia and the I383V variant in TARDBP .

Autor: Mol MO; Department of Neurology, Erasmus Medical Center, Rotterdam, The Netherlands m.o.mol@erasmusmc.nl., Nijmeijer SWR; Department of Clinical Genetics, Amsterdam UMC, Location VU University Medical Center, Amsterdam, The Netherlands., van Rooij JGJ; Department of Neurology, Erasmus Medical Center, Rotterdam, The Netherlands., van Spaendonk RML; Department of Clinical Genetics, Amsterdam UMC, Location VU University Medical Center, Amsterdam, The Netherlands., Pijnenburg YAL; Department of Neurology, Alzheimer Center, Amsterdam UMC, Location VU University Medical Center, Amsterdam, The Netherlands., van der Lee SJ; Department of Neurology, Alzheimer Center, Amsterdam UMC, Location VU University Medical Center, Amsterdam, The Netherlands., van Minkelen R; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., Donker Kaat L; Department of Neurology, Erasmus Medical Center, Rotterdam, The Netherlands.; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., Rozemuller AJM; Department of Pathology, Amsterdam UMC, Location VU University Medical Center, Amsterdam, The Netherlands., Janse van Mantgem MR; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, The Netherlands., van Rheenen W; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, The Netherlands., van Es MA; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, The Netherlands., Veldink JH; Department of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht, The Netherlands., Hennekam FAM; Department of Clinical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Vernooij M; Deparment of Radiology and Nuclear Medicine, Erasmus Medical Center, Rotterdam, The Netherlands.; Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands., van Swieten JC; Department of Neurology, Erasmus Medical Center, Rotterdam, The Netherlands., Cohn-Hokke PE; Department of Clinical Genetics, Amsterdam UMC, Location VU University Medical Center, Amsterdam, The Netherlands., Seelaar H; Department of Neurology, Erasmus Medical Center, Rotterdam, The Netherlands., Dopper EGP; Department of Neurology, Erasmus Medical Center, Rotterdam, The Netherlands.

Publikováno v: Journal of neurology, neurosurgery, and psychiatry [J Neurol Neurosurg Psychiatry] 2021 Jul; Vol. 92 (7), pp. 787-789. Date of Electronic Publication: 2021 Jan 15.

A novel CCM2 variant in a family with non-progressive cognitive complaints and cerebral microbleeds.

Autor: Cohn-Hokke PE; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands., Holstege H; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.; Alzheimer Center, Department of Neurology, VU University Medical Center, Neuroscience Campus Amsterdam, Amsterdam, The Netherlands., Weiss MM; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands., van der Flier WM; Alzheimer Center, Department of Neurology, VU University Medical Center, Neuroscience Campus Amsterdam, Amsterdam, The Netherlands.; Department of Epidemiology and Biostatistics, VU University Medical Center, Amsterdam, The Netherlands., Barkhof F; Department of Radiology & Nuclear Medicine, VU University Medical Center, Neuroscience Campus Amsterdam, Amsterdam, The Netherlands., Sistermans EA; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands., Pijnenburg YA; Alzheimer Center, Department of Neurology, VU University Medical Center, Neuroscience Campus Amsterdam, Amsterdam, The Netherlands., van Swieten JC; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.; Alzheimer Center, Department of Neurology, VU University Medical Center, Neuroscience Campus Amsterdam, Amsterdam, The Netherlands.; Department of Neurology, Erasmus Medical Center, Rotterdam, The Netherlands., Meijers-Heijboer H; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands., Scheltens P; Alzheimer Center, Department of Neurology, VU University Medical Center, Neuroscience Campus Amsterdam, Amsterdam, The Netherlands.

Publikováno v: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics [Am J Med Genet B Neuropsychiatr Genet] 2017 Apr; Vol. 174 (3), pp. 220-226. Date of Electronic Publication: 2016 Jun 08.

Rare Genetic Variant in SORL1 May Increase Penetrance of Alzheimer's Disease in a Family with Several Generations of APOE-ɛ4 Homozygosity.

Autor: Louwersheimer E; Alzheimer Center and Department of Neurology, Neuroscience Campus Amsterdam, VU University Medical Center, Amsterdam, The Netherlands., Cohn-Hokke PE; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands., Pijnenburg YA; Alzheimer Center and Department of Neurology, Neuroscience Campus Amsterdam, VU University Medical Center, Amsterdam, The Netherlands., Weiss MM; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands., Sistermans EA; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands., Rozemuller AJ; Department of Pathology, VU University Medical Center, Amsterdam, The Netherlands., Hulsman M; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.; Delft Bioinformatics Laboratory, Delft University of Technology, Delft, The Netherlands., van Swieten JC; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.; Department of Neurology, Erasmus Medical Center, Rotterdam, The Netherlands., van Duijn CM; Genetic Epidemiology Unit, Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands., Barkhof F; Department of Radiology and Nuclear Medicine, VU University Medical Center, Amsterdam, The Netherlands.; Institutes of Neurology and Healthcare Engineering, UCL, London, UK., Koene T; Alzheimer Center & Department of Medical Psychology, VU University Medical Center, Amsterdam, The Netherlands., Scheltens P; Alzheimer Center and Department of Neurology, Neuroscience Campus Amsterdam, VU University Medical Center, Amsterdam, The Netherlands., Van der Flier WM; Alzheimer Center and Department of Neurology, Neuroscience Campus Amsterdam, VU University Medical Center, Amsterdam, The Netherlands.; Department of Epidemiology & Biostatistics, VU University Medical Center, Amsterdam, The Netherlands., Holstege H; Alzheimer Center and Department of Neurology, Neuroscience Campus Amsterdam, VU University Medical Center, Amsterdam, The Netherlands.; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.

Publikováno v: Journal of Alzheimer's disease : JAD [J Alzheimers Dis] 2017; Vol. 56 (1), pp. 63-74.

Genetics of dementia: update and guidelines for the clinician.

Autor: Cohn-Hokke PE; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands. p.cohn@vumc.nl, Elting MW, Pijnenburg YA, van Swieten JC

Publikováno v: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics [Am J Med Genet B Neuropsychiatr Genet] 2012 Sep; Vol. 159B (6), pp. 628-43. Date of Electronic Publication: 2012 Jul 19.