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1.	Jansen, AC, et al. (author) Clinical Characteristics of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex 2019 In: Frontiers in neurology. - : Frontiers Media SA. - 1664-2295. ; 10, s. 705- Journal article (peer-reviewed)
2.	Marques, R, et al. (author) Treatment Patterns and Use of Resources in Patients With Tuberous Sclerosis Complex: Insights From the TOSCA Registry 2019 In: Frontiers in neurology. - : Frontiers Media SA. - 1664-2295. ; 10, s. 1144- Journal article (peer-reviewed)
3.	Kogelman, LJA, et al. (author) Migraine polygenic risk score associates with efficacy of migraine-specific drugs 2019 In: Neurology. Genetics. - 2376-7839. ; 5:6, s. e364- Journal article (peer-reviewed)
4.	Nabbout, R, et al. (author) Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study 2019 In: Epilepsia open. - : Wiley. - 2470-9239. ; 4:1, s. 73-84 Journal article (peer-reviewed)
5.	Blumenstein, Kathrin, et al. (author) Phenotype MicroArrays as a complementary tool to next generation sequencing for characterization of tree endophytes 2015 In: Frontiers in Microbiology. - : Frontiers Media SA. - 1664-302X. ; 6 Journal article (peer-reviewed)abstract There is an increasing need to calibrate microbial community profiles obtained through next generation sequencing (NGS) with relevant taxonomic identities of the microbes, and to further associate these identities with phenotypic attributes. Phenotype MicroArray (PM) techniques provide a semi-high throughput assay for characterization and monitoring the microbial cellular phenotypes. Here, we present detailed descriptions of two different PM protocols used in our recent studies on fungal endophytes of forest trees, and highlight the benefits and limitations of this technique. We found that the PM approach enables effective screening of substrate utilization by endophytes. However, the technical limitations are multifaceted and the interpretation of the PM data challenging. For the best result, we recommend that the growth conditions for the fungi are carefully standardized. In addition, rigorous replication and control strategies should be employed whether using pre-configured, commercial microwell-plates or in-house designed PM plates for targeted substrate analyses. With these precautions, the PM technique is a valuable tool to characterize the metabolic capabilities of individual endophyte isolates, or successional endophyte communities identified by NGS, allowing a functional interpretation of the taxonomic data. Thus, PM approaches can provide valuable complementary information for NGS studies of fungal endophytes in forest trees.
6.	de Vries, PJ, et al. (author) TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study 2018 In: Orphanet journal of rare diseases. - : Springer Science and Business Media LLC. - 1750-1172. ; 13:1, s. 157- Journal article (peer-reviewed)
7.	Kingswood, JC, et al. (author) Renal angiomyolipoma in patients with tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increase disease Awareness 2019 In: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association. - : Oxford University Press (OUP). - 1460-2385. ; 34:3, s. 502-508 Journal article (peer-reviewed)
8.	Kingswood, JC, et al. (author) TuberOus SClerosis registry to increase disease Awareness (TOSCA) - baseline data on 2093 patients 2017 In: Orphanet journal of rare diseases. - : Springer Science and Business Media LLC. - 1750-1172. ; 12:1, s. 2- Journal article (peer-reviewed)
9.	Marques, R, et al. (author) The TOSCA Registry for Tuberous Sclerosis-Lessons Learnt for Future Registry Development in Rare and Complex Diseases 2019 In: Frontiers in neurology. - : Frontiers Media SA. - 1664-2295. ; 10, s. 1182- Journal article (peer-reviewed)

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Result 1-9 of 9

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Type of publication: journal article (9)

Type of content: peer-reviewed (9)

Author/Editor: Macaya, A. (8); Takahashi, Y. (7); Qin, J. (7); Sauter, M. (7); Carter, T (7); Marques, R (7); show more...; Curatolo, P (7); Dahlin, M (7); Lawson, JA (7); Nabbout, R. (7); Cottin, V (7); de Vries, PJ (7); Shah, S (6); Belousova, E. (6); Rask, Olof (3); Kaneda, M. (2); Li, H. (2); Liu, J. (2); Wang, Y. (2); Hartmann, H. (2); Hahn, A. (2); Kim, K. (2); Zhang, YQ (2); Zou, LP (2); Inoue, Y. (2); Uchida, Y. (2); Imai, K (2); Wysocki, M (2); Crawford, P (2); Allaire, C. (2); Fattal-Valevski, A. (2); Milh, M. (2); Martin, AD (2); Popescu, L. (2); Yan, B. (2); Kurlemann, G (2); Rostasy, K (2); Baumann, M (2); Fontana, E (2); Verhelst, H (2); Dalla Bernardina, B (2); Brodtkorb, E (2); Uvebrant, P (2); D'Hooghe, M (2); Elmslie, F (2); Gambardella, A (2); Kubota, M (2); Jiang, L (2); Zhang, YS (2); Huang, CC (2); show less...

University: Karolinska Institutet (8); Lund University (3); Umeå University (1); Linnaeus University (1); Swedish University of Agricultural Sciences (1)

Language: English (9)

Research subject (UKÄ/SCB): Medical and Health Sciences (4); Natural sciences (1); Agricultural Sciences (1)

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