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1.	Pinkney, T, et al. (author) The relationship between method of anastomosis and anastomotic failure after right hemicolectomy and ileo-caecal resection: an international snapshot audit 2017 In: Colorectal disease : the official journal of the Association of Coloproctology of Great Britain and Ireland. - : Wiley. - 1463-1318 .- 1462-8910. ; 19:8, s. O296-O311 Journal article (peer-reviewed)
2.	Rebbeck, Timothy R, et al. (author) Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer. 2015 In: JAMA: The Journal of the American Medical Association. - : American Medical Association (AMA). - 1538-3598 .- 0098-7484. ; 313:13, s. 1347-1361 Journal article (peer-reviewed)abstract Limited information about the relationship between specific mutations in BRCA1 or BRCA2 (BRCA1/2) and cancer risk exists.
3.	Santillo, Alexander F., et al. (author) [18F]RO948 tau positron emission tomography in genetic and sporadic frontotemporal dementia syndromes 2023 In: European Journal of Nuclear Medicine and Molecular Imaging. - : Springer Science and Business Media LLC. - 1619-7070 .- 1619-7089. ; 50:5, s. 1371-1383 Journal article (peer-reviewed)abstract Purpose: To examine [18F]RO948 retention in FTD, sampling the underlying protein pathology heterogeneity. Methods: A total of 61 individuals with FTD (n = 35), matched cases of AD (n = 13) and Aβ-negative cognitively unimpaired individuals (n = 13) underwent [18F]RO948PET and MRI. FTD included 21 behavioral variant FTD (bvFTD) cases, 11 symptomatic C9orf72 mutation carriers, one patient with non-genetic bvFTD-ALS, one individual with bvFTD due to a GRN mutation, and one due to a MAPT mutation (R406W). Tracer retention was examined using a region-of-interest and voxel-wise approaches. Two individuals (bvFTD due to C9orf72) underwent postmortem neuropathological examination. Tracer binding was additionally assessed in vitro using [3H]RO948 autoradiography in six separate cases. Results: [18F]RO948 retention across ROIs was clearly lower than in AD and comparable to that in Aβ-negative cognitively unimpaired individuals. Only minor loci of tracer retention were seen in bvFTD; these did not overlap with the observed cortical atrophy in the cases, the expected pattern of atrophy, nor the expected or verified protein pathology distribution. Autoradiography analyses showed no specific [3H]RO948 binding. The R406W MAPT mutation carriers were clear exceptions with AD-like retention levels and specific in-vitro binding. Conclusion: [18F]RO948 uptake is not significantly increased in the majority of FTD patients, with a clear exception being specific MAPT mutations.

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Type of publication: journal article (3)

Type of content: peer-reviewed (3)

Author/Editor: De Castro, S. (1); Meyer, J. (1); Rossi, E. (1); Sanchez, J. (1); Wang, X. (1); Lange, C. (1); show more...; Davies, E. (1); Pal, A. (1); Alonso, J. (1); Abraham-Nordling, M (1); Boyle, K (1); Fearnhead, N (1); Garcia-Granero, E (1); Golda, T (1); Hompes, R (1); Kapur, S (1); Kumar, S (1); Laurberg, S (1); Mikalauskas, S (1); Rocha, R (1); Vierimaa, M (1); Keller, M. (1); Martin, S. (1); Nevanlinna, Heli (1); Aittomäki, Kristiina (1); Johnson, M. (1); Manca, G. (1); Williams, G. (1); Robertson, A. (1); Perry, R (1); Agarwal, T (1); Rasmussen, S (1); Evans, M. (1); Garcia, J. (1); Macdonald, E. (1); Patel, P. (1); Khan, A. (1); Hunt, L (1); Williams, M (1); Alam, N (1); Lozano, R (1); Pereira, J (1); Watson, A (1); Hussain, A (1); Morris, C (1); Evans, J. (1); Knops, S. (1); Sharma, A (1); Barker, J (1); Yamamoto, T. (1); show less...

University: Lund University (2); Karolinska Institutet (2); Uppsala University (1)

Language: English (3)

Research subject (UKÄ/SCB): Medical and Health Sciences (2)

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