Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Petra E. Cohn-Hokke"'
Autor:
Meike W. Vernooij, Yolande A.L. Pijnenburg, Laura Donker Kaat, Jeroen van Rooij, Elise G.P. Dopper, Resie M. L. van Spaendonk, Michael A. van Es, Petra E. Cohn-Hokke, Sven J. van der Lee, Merel O. Mol, Harro Seelaar, Wouter van Rheenen, Sebastiaan W.R. Nijmeijer, F. A. M. Hennekam, John C. van Swieten, Jan H. Veldink, Annemieke J.M. Rozemuller, Mark R. Janse van Mantgem, Rick van Minkelen
Publikováno v:
Journal of Neurology, Neurosurgery and Psychiatry, 92(7), 787-789. BMJ Publishing Group
Journal of Neurology, Neurosurgery, and Psychiatry
Mol, M O, Nijmeijer, S W R, van Rooij, J G J, van Spaendonk, R M L, Pijnenburg, Y A L, van der Lee, S J, van Minkelen, R, Donker Kaat, L, Rozemuller, A J M, Janse van Mantgem, M R, van Rheenen, W, van Es, M A, Veldink, J H, Hennekam, F A M, Vernooij, M, van Swieten, J C, Cohn-Hokke, P E, Seelaar, H & Dopper, E G P 2021, ' Distinctive pattern of temporal atrophy in patients with frontotemporal dementia and the I383V variant in TARDBP ', Journal of Neurology, Neurosurgery and Psychiatry, vol. 92, no. 7, pp. 787-789 . https://doi.org/10.1136/jnnp-2020-325150
Journal of Neurology, Neurosurgery, and Psychiatry
Mol, M O, Nijmeijer, S W R, van Rooij, J G J, van Spaendonk, R M L, Pijnenburg, Y A L, van der Lee, S J, van Minkelen, R, Donker Kaat, L, Rozemuller, A J M, Janse van Mantgem, M R, van Rheenen, W, van Es, M A, Veldink, J H, Hennekam, F A M, Vernooij, M, van Swieten, J C, Cohn-Hokke, P E, Seelaar, H & Dopper, E G P 2021, ' Distinctive pattern of temporal atrophy in patients with frontotemporal dementia and the I383V variant in TARDBP ', Journal of Neurology, Neurosurgery and Psychiatry, vol. 92, no. 7, pp. 787-789 . https://doi.org/10.1136/jnnp-2020-325150
Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are closely related disorders, linked pathologically and genetically by the TAR DNA-binding protein-43 (TDP-43). Pathogenic variants in TARDBP encoding for TDP-43 have been describ
Autor:
Annemieke J.M. Rozemuller, Hulya Ulugut Erkoyun, Anke A. Dijkstra, Philip Scheltens, Marta Scarioni, Sven J. van der Lee, Fatih Tepgec, Bas Nijmeijer, Zerrin Yıldırım, Frederik Barkhof, Başar Bilgiç, Petra E. Cohn-Hokke, Hakan Gurvit, Wiesje M. van der Flier, Yolande A.L. Pijnenburg, Anne Nelissen, Bedia Samanci, Rosalina M. L. van Spaendonk
Publikováno v:
Journal of Alzheimer s disease, 79(3), 1195-1201. IOS Press
Erkoyun, H U, van der Lee, S J, Nijmeijer, B, van Spaendonk, R, Nelissen, A, Scarioni, M, Dijkstra, A, Samancı, B, Gürvit, H, Yıldırım, Z, Tepgeç, F, Bilgic, B, Barkhof, F, Rozemuller, A, van der Flier, W M, Scheltens, P, Cohn-Hokke, P & Pijnenburg, Y 2021, ' The right temporal variant of frontotemporal dementia is not genetically sporadic: A case series ', Journal of Alzheimer's Disease, vol. 79, no. 3, pp. 1195-1201 . https://doi.org/10.3233/JAD-201191
Journal of Alzheimer's Disease, 79(3), 1195-1201. IOS Press
Journal of Alzheimer's Disease
Erkoyun, H U, van der Lee, S J, Nijmeijer, B, van Spaendonk, R, Nelissen, A, Scarioni, M, Dijkstra, A, Samancı, B, Gürvit, H, Yıldırım, Z, Tepgeç, F, Bilgic, B, Barkhof, F, Rozemuller, A, van der Flier, W M, Scheltens, P, Cohn-Hokke, P & Pijnenburg, Y 2021, ' The right temporal variant of frontotemporal dementia is not genetically sporadic: A case series ', Journal of Alzheimer's Disease, vol. 79, no. 3, pp. 1195-1201 . https://doi.org/10.3233/JAD-201191
Journal of Alzheimer's Disease, 79(3), 1195-1201. IOS Press
Journal of Alzheimer's Disease
Background: Right temporal variant frontotemporal dementia (rtvFTD) has been generally considered as a right sided variant of semantic variant primary progressive aphasia (svPPA), which is a genetically sporadic disorder. Recently, we have shown that
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff4a26e4512286ee103f3530be297034
https://pure.amc.nl/en/publications/the-right-temporal-variant-of-frontotemporal-dementia-is-not-genetically-sporadic(b65b6072-2f5e-4fbe-a638-9ce1717e90d3).html
https://pure.amc.nl/en/publications/the-right-temporal-variant-of-frontotemporal-dementia-is-not-genetically-sporadic(b65b6072-2f5e-4fbe-a638-9ce1717e90d3).html
Autor:
Henne Holstege, Hanne Meijers-Heijboer, Frederik Barkhof, Erik A. Sistermans, John C. van Swieten, Petra E. Cohn-Hokke, Marjan M. Weiss, Philip Scheltens, Wiesje M. van der Flier, Yolande A.L. Pijnenburg
Publikováno v:
American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, 174(3), 220-226. Wiley-Liss Inc.
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 174(3), 220-226. Wiley-Liss Inc.
American Journal of Medical Genetics
Cohn-Hokke, P E, Holstege, H, Weiss, M M, van der Flier, W M, Barkhof, F, Sistermans, E A, Pijnenburg, Y A L, van Swieten, J C, Meijers-Heijboer, H & Scheltens, P 2017, ' A novel CCM2 variant in a family with non-progressive cognitive complaints and cerebral microbleeds ', American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, vol. 174, no. 3, pp. 220-226 . https://doi.org/10.1002/ajmg.b.32468
American Journal of Medical Genetics Part B-Neuropsychiatric Genetics, 174(3), 220-226. Wiley-Liss Inc.
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 174(3), 220-226. Wiley-Liss Inc.
American Journal of Medical Genetics
Cohn-Hokke, P E, Holstege, H, Weiss, M M, van der Flier, W M, Barkhof, F, Sistermans, E A, Pijnenburg, Y A L, van Swieten, J C, Meijers-Heijboer, H & Scheltens, P 2017, ' A novel CCM2 variant in a family with non-progressive cognitive complaints and cerebral microbleeds ', American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, vol. 174, no. 3, pp. 220-226 . https://doi.org/10.1002/ajmg.b.32468
American Journal of Medical Genetics Part B-Neuropsychiatric Genetics, 174(3), 220-226. Wiley-Liss Inc.
Lobar cerebral microbleeds are most often sporadic and associated with Alzheimer's disease. The aim of our study was to identify the underlying genetic defect in a family with cognitive complaints and multiple lobar microbleeds and a positive family
Autor:
Yolande A.L. Pijnenburg, Aad Tibben, Petra E. Cohn-Hokke, Hanne Meijers-Heijboer, John C. van Swieten, Anneke Kievit
Publikováno v:
Journal of Genetic Counseling, 27(4), 947-954
Cohn-Hokke, P E, van Swieten, J C, Pijnenburg, Y A L, Tibben, A, Meijers-Heijboer, H & Kievit, A 2018, ' The Effect of Predictive Testing in Adult-Onset Neurodegenerative Diseases on Social and Personal Life ', Journal of Genetic Counseling, vol. 27, no. 4, pp. 947-954 . https://doi.org/10.1007/s10897-017-0195-3
Journal of Genetic Counseling, 27(4), 947-954. Kluwer Academic/Human Sciences Press Inc.
Journal of genetic counseling, 27(4), 947-954. Kluwer Academic/Human Sciences Press Inc.
Journal of Genetic Counseling, 27(4), 947-954. Human Sciences Press/Kluwer Academic
Cohn-Hokke, P E, van Swieten, J C, Pijnenburg, Y A L, Tibben, A, Meijers-Heijboer, H & Kievit, A 2018, ' The Effect of Predictive Testing in Adult-Onset Neurodegenerative Diseases on Social and Personal Life ', Journal of Genetic Counseling, vol. 27, no. 4, pp. 947-954 . https://doi.org/10.1007/s10897-017-0195-3
Journal of Genetic Counseling, 27(4), 947-954. Kluwer Academic/Human Sciences Press Inc.
Journal of genetic counseling, 27(4), 947-954. Kluwer Academic/Human Sciences Press Inc.
Journal of Genetic Counseling, 27(4), 947-954. Human Sciences Press/Kluwer Academic
Follow-up studies on predictive testing for hereditary neurodegenerative diseases mainly focussed on psychological outcomes. We investigated whether the social and personal life of mutation carriers differ negatively from non-carriers and untested at
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3e034623a9b52d69db07d2583660f1f
http://hdl.handle.net/1887/96008
http://hdl.handle.net/1887/96008
Autor:
W.M. van der Flier, Patrizia Rizzu, Yolande A.L. Pijnenburg, Peter Heutink, Philip Scheltens, E. J. Meijers-Heijboer, Tsz Hang Wong, Frank Baas, Guido J. Breedveld, J. C. van Swieten, Petra E. Cohn-Hokke
Publikováno v:
Journal of neurology, 261(11), 2085-2092. D. Steinkopff-Verlag
Cohn-Hokke, P E, Wong, T H, Rizzu, P, Breedveld, G, van der Flier, W M, Scheltens, P, Baas, F, Heutink, P, Meijers-Heijboer, E J, van Swieten, J C & Pijnenburg, Y A L 2014, ' Mutation frequency of PRKAR1B and the major familial dementia genes in a Dutch early onset dementia cohort ', Journal of Neurology, vol. 261, no. 11, pp. 2085-2092 . https://doi.org/10.1007/s00415-014-7456-y
Journal of Neurology, 261(11), 2085-2092. D. Steinkopff-Verlag
Cohn-Hokke, P E, Wong, T H, Rizzu, P, Breedveld, G, van der Flier, W M, Scheltens, P, Baas, F, Heutink, P, Meijers-Heijboer, E J, van Swieten, J C & Pijnenburg, Y A L 2014, ' Mutation frequency of PRKAR1B and the major familial dementia genes in a Dutch early onset dementia cohort ', Journal of Neurology, vol. 261, no. 11, pp. 2085-2092 . https://doi.org/10.1007/s00415-014-7456-y
Journal of Neurology, 261(11), 2085-2092. D. Steinkopff-Verlag
Genetic factors are important in all forms of dementia, especially in early onset dementia. The frequency of major gene defects in dementia has not been investigated in the Netherlands. Furthermore, whether the recently in a FTD family identified PRK
Autor:
Helenius J. Schelhaas, Yolande A.L. Pijnenburg, Harro Seelaar, Danielle Majoor-Krakauer, Dorly J. H. Deeg, Renate K. Hukema, Peter Heutink, Marion Smits, Annemieke J.M. Rozemuller, Inge de Koning, Natasja M. van Schoor, J. Roos A. de Graaf, Javier Simón-Sánchez, Leonard H. van den Berg, John C. van Swieten, Christine E. M. de Die-Smulders, Nayia Nicolaou, Joost Raaphorst, Rob Willemsen, Elise G.P. Dopper, Petra E. Cohn-Hokke
Publikováno v:
Brain, 135, 723-35
Brain, 163(3), 723-735. Oxford University Press
Simon-Sanchez, J, Dopper, E G P, Hokke, P E, Hukema, R K, Nicolaou, N, Seelaar, H, van Schoor, N M, Deeg, D J H, Rozemuller, J M, Pijnenburg, Y A L, Heutink, P & van Swieten, J C 2012, ' The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions ', Brain, vol. 163, no. 3, pp. 723-735 . https://doi.org/10.1093/brain/awr353
Brain, 135, Pt 3, pp. 723-35
Brain, 135, 723-735. Oxford University Press
Brain, 135(3), 723-735. Oxford University Press
Brain, 163(3), 723-735. Oxford University Press
Simon-Sanchez, J, Dopper, E G P, Hokke, P E, Hukema, R K, Nicolaou, N, Seelaar, H, van Schoor, N M, Deeg, D J H, Rozemuller, J M, Pijnenburg, Y A L, Heutink, P & van Swieten, J C 2012, ' The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions ', Brain, vol. 163, no. 3, pp. 723-735 . https://doi.org/10.1093/brain/awr353
Brain, 135, Pt 3, pp. 723-35
Brain, 135, 723-735. Oxford University Press
Brain, 135(3), 723-735. Oxford University Press
Item does not contain fulltext There is increasing evidence that frontotemporal dementia and amyotrophic lateral sclerosis are part of a disease continuum. Recently, a hexanucleotide repeat expansion in C9orf72 was identified as a major cause of both
Publikováno v:
American Journal of Medical Genetics Part B-Neuropsychiatric Genetics, 159B(6), 628-643. Wiley-Liss Inc.
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 159B(6), 628-643. Wiley-Liss Inc.
Hokke, P E, Elting, M W, Pijnenburg, Y A L & van Swieten, J C 2012, ' Genetics of Dementia: Update and Guidelines for the Clinician ', American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, vol. 159B, no. 6, pp. 628-643 . https://doi.org/10.1002/ajmg.b.32080
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 159B(6), 628-643. Wiley-Liss Inc.
Hokke, P E, Elting, M W, Pijnenburg, Y A L & van Swieten, J C 2012, ' Genetics of Dementia: Update and Guidelines for the Clinician ', American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, vol. 159B, no. 6, pp. 628-643 . https://doi.org/10.1002/ajmg.b.32080
With increased frequency, clinical geneticists are asked for genetic advice on the heredity of dementia in families. Alzheimer's disease is in most cases a complex disease, but may be autosomal dominant inherited. Mutations in the PSEN1 gene are the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13efdccfc9e4d6f43f56e1c97dac9030
https://pure.eur.nl/en/publications/e8720ecd-0f12-41ef-b820-23031ad74357
https://pure.eur.nl/en/publications/e8720ecd-0f12-41ef-b820-23031ad74357