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1.	Thery, C, et al. (author) Minimal information for studies of extracellular vesicles 2018 (MISEV2018): a position statement of the International Society for Extracellular Vesicles and update of the MISEV2014 guidelines 2018 In: Journal of extracellular vesicles. - : Wiley. - 2001-3078. ; 7:1, s. 1535750- Journal article (peer-reviewed)
2.	Zollino, M, et al. (author) Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement 2019 In: Clinical genetics. - : Wiley. - 1399-0004 .- 0009-9163. ; 95:4, s. 462-478 Journal article (peer-reviewed)
3.	Reiner, A. T., et al. (author) Concise Review: Developing Best-Practice Models for the Therapeutic Use of Extracellular Vesicles 2017 In: Stem Cells Translational Medicine. - : Oxford University Press (OUP). - 2157-6564 .- 2157-6580. ; 6:8 Research review (peer-reviewed)abstract Growing interest in extracellular vesicles (EVs, including exosomes and microvesicles) as therapeutic entities, particularly in stem cell-related approaches, has underlined the need for standardization and coordination of development efforts. Members of the International Society for Extracellular Vesicles and the Society for Clinical Research and Translation of Extracellular Vesicles Singapore convened a Workshop on this topic to discuss the opportunities and challenges associated with development of EV-based therapeutics at the preclinical and clinical levels. This review outlines topic-specific action items that, if addressed, will enhance the development of best-practice models for EV therapies.
4.	van Eeghen, A M, et al. (author) Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome 2023 In: European Journal of Medical Genetics. - : Elsevier. - 1769-7212 .- 1878-0849. ; 66:7 Journal article (peer-reviewed)abstract The manifestations of Phelan-McDermid syndrome (PMS) are complex, warranting expert and multidisciplinary care in all life stages. In the present paper we propose consensus recommendations on the organization of care for individuals with PMS. We indicate that care should consider all life domains, which can be done within the framework of the International Classification of Functioning, Disability and Health (ICF). This framework assesses disability and functioning as the outcome of the individual's interactions with other factors. The different roles within care, such as performed by a centre of expertise, by regional health care providers and by a coordinating physician are addressed. A surveillance scheme and emergency card is provided and disciplines participating in a multidisciplinary team for PMS are described. Additionally, recommendations are provided for transition from paediatric to adult care. This care proposition may also be useful for individuals with other rare genetic neurodevelopmental disorders.

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Type of publication: journal article (3); research review (1)

Type of content: peer-reviewed (4)

Author/Editor: Yin, H. (2); Gabrielsson, S (2); Lötvall, Jan, 1956 (2); Tahara, H (2); Chen, S. (1); Jenster, G (1); show more...; Antoniou, A (1); Park, J (1); Sharma, S. (1); Das, S. (1); Rak, J. (1); Schneider, R. (1); Krause, M. (1); Moller, A (1); Ortiz, A (1); Weiss, DJ (1); Leszczynska, A. (1); Ostrowski, M. (1); Xu, J (1); Sahoo, S. (1); Buch, S (1); Nejsum, P (1); Salomon, C (1); Nordgren, A (1); Gunnarsson, Cecilia, ... (1); Cheng, L (1); Shiba, K (1); Wheelock, AM (1); Zheng, L (1); de Beer, J (1); Kaur, S (1); Scott, A (1); Nawaz, Muhammad (1); Witwer, KW (1); Hunt, S (1); Chen, CC (1); Gardiner, C (1); Lim, R (1); Mullier, F (1); Baharvand, H (1); Huber, V. (1); Zhao, ZZ (1); Anderson, JD (1); Ivanova, A (1); Gustafson, D (1); Pulliam, L. (1); Vader, P (1); Gorgens, A (1); Gilbert, C (1); Llorente, A (1); show less...

University: Karolinska Institutet (3); University of Gothenburg (2); Linköping University (1); Lund University (1)

Language: English (4)

Research subject (UKÄ/SCB): Medical and Health Sciences (3); Natural sciences (1)

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