Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study

Autor: Karlijn Bouman, Jan T. Groothuis, Jonne Doorduin, Nens van Alfen, Floris E. A. Udink ten Cate, Frederik M. A. van den Heuvel, Robin Nijveldt, Willem C. M. van Tilburg, Stan C. F. M. Buckens, Anne T. M. Dittrich, Jos M. T. Draaisma, Mirian C. H. Janssen, Erik-Jan Kamsteeg, Esmee S. B. van Kleef, Saskia Koene, Jan A. M. Smeitink, Benno Küsters, Florence H. J. van Tienen, Hubert J. M. Smeets, Baziel G. M. van Engelen, Corrie E. Erasmus, Nicol C. Voermans

Publikováno v: BMC Neurology, Vol 21, Iss 1, Pp 1-14 (2021)

Abstract Background SELENON (SEPN1)-related myopathy (SELENON-RM) is a rare congenital myopathy characterized by slowly progressive proximal muscle weakness, early onset spine rigidity and respiratory insufficiency. A muscular dystrophy caused by mut

Externí odkaz: https://doaj.org/article/99f6f067662b4ae7948d3919fc82048d

The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant

Autor: Mio Aerden, Anne-Sophie Denommé-Pichon, Dominique Bonneau, Ange-Line Bruel, Julian Delanne, Bénédicte Gérard, Benoît Mazel, Christophe Philippe, Lucile Pinson, Clément Prouteau, Audrey Putoux, Frédéric Tran Mau-Them, Éléonore Viora-Dupont, Antonio Vitobello, Alban Ziegler, Amélie Piton, Bertrand Isidor, Christine Francannet, Pierre-Yves Maillard, Sophie Julia, Anais Philippe, Elise Schaefer, Saskia Koene, Claudia Ruivenkamp, Mariette Hoffer, Eric Legius, Miel Theunis, Boris Keren, Julien Buratti, Perrine Charles, Thomas Courtin, Mala Misra-Isrie, Mieke van Haelst, Quinten Waisfisz, Dagmar Wieczorek, Ariane Schmetz, Theresia Herget, Fanny Kortüm, Jasmin Lisfeld, François-Guillaume Debray, Nuria C. Bramswig, Isis Atallah, Heidi Fodstad, Guillaume Jouret, Berta Almoguera, Saoud Tahsin-Swafiri, Fernando Santos-Simarro, Maria Palomares-Bralo, Vanesa López-González, Maria Kibaek, Pernille M. Tørring, Alessandra Renieri, Lucia Pia Bruno, Katrin Õunap, Monica Wojcik, Tzung-Chien Hsieh, Peter Krawitz, Hilde Van Esch

Publikováno v: European Journal of Human Genetics, 31(4), 461-468. Nature Publishing Group
Aerden, M, Denommé-Pichon, A-S, Bonneau, D, Bruel, A-L, Delanne, J, Gérard, B N, Mazel, B, Philippe, C, Pinson, L, Prouteau, C, Putoux, A, Tran Mau-Them, F, Viora-Dupont, É, Vitobello, A, Ziegler, A, Piton, A, Isidor, B, Francannet, C, Maillard, P-Y, Julia, S, Philippe, A, Schaefer, E, Koene, S, Ruivenkamp, C, Hoffer, M, Legius, E, Theunis, M, Keren, B, Buratti, J, Charles, P, Courtin, T, Misra-Isrie, M, van Haelst, M, Waisfisz, Q, Wieczorek, D, Schmetz, A, Herget, T, Kortüm, F, Lisfeld, J, Debray, F-G, Bramswig, N C, Atallah, I, Fodstad, H, Jouret, G, Almoguera, B, Tahsin-Swafiri, S, Santos-Simarro, F, Palomares-Bralo, M, López-González, V, Kibaek, M, Tørring, P M, Renieri, A, Bruno, L P, Õunap, K, Wojcik, M, Hsieh, T-C, Krawitz, P & van Esch, H 2023, ' The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant ', European Journal of Human Genetics, vol. 31, no. 4, pp. 461-468 . https://doi.org/10.1038/s41431-023-01307-x

Haploinsufficiency of TRIP12 causes a neurodevelopmental disorder characterized by intellectual disability associated with epilepsy, autism spectrum disorder and dysmorphic features, also named Clark-Baraitser syndrome. Only a limited number of cases

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bd3051ef1e64c7bdec49a7621be4891
https://doi.org/10.1038/s41431-023-01307-x

Tailored interviewing to uncover the perspectives of children with multiple disabilities on daily activities: A qualitative analyses of interview methods and interviewer skills

Autor: Esther Steultjens, Marieke Lindenschot, Sanne Diepeveen, Jana Zajec, Imelda de Groot, Ria Nijhuis‐van der Sanden, Saskia Koene, Maud Graff

Publikováno v: Australian Occupational Therapy Journal, 70, 175-189
Australian Occupational Therapy Journal, 1-15
STARTPAGE=1;ENDPAGE=15;ISSN=0045-0766;TITLE=Australian Occupational Therapy Journal
Australian Occupational Therapy Journal, 70, 2, pp. 175-189

Contains fulltext : 291778.pdf (Publisher’s version ) (Open Access) INTRODUCTION: Uncovering the perspective of children with multiple disabilities is important in health care to enable person-centred health care. For occupational therapists, uncov

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef57b7d98ea28c6bbacba3f0c44a5a61
https://doi.org/10.1111/1440-1630.12842

Quantification of gait in mitochondrial m.3243A > G patients: a validation study

Autor: Rob Ramakers, Saskia Koene, Jan T Groothuis, Paul de Laat, Mirian CH Janssen, Jan Smeitink

Publikováno v: Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-9 (2017)

Abstract Background More than half of the patients harbouring the m.3243A > G mutation were found to have trouble maintaining balance when walking in a recent study by our group. Others demonstrated that these patients had an abnormal gait pattern, a

Externí odkaz: https://doaj.org/article/51d2ff557ede4308a6b24e8aa61c0f1a

Perceive, Recall, Plan and Perform (PRPP)-Assessment Based on Parent-Provided Videos of Children with Mitochondrial Disorder: Action Design Research on Implementation Challenges

Autor: Marieke Lindenschot, Imelda J.M.de Groot, Maria W.G. Nijhuis-van der Sanden, Esther M.J. Steultjens, Maud J.L. Graff, Saskia Koene

Publikováno v: Physical and Occupational Therapy in Pediatrics, 43, 74-92
Physical and Occupational Therapy in Pediatrics, 43, 1, pp. 74-92

Contains fulltext : 291161.pdf (Publisher’s version ) (Open Access) AIMS: Performing the Perceive, Recall, Plan and Perform (PRPP)-Assessment, using video material of everyday life, seems sensible to lower the patient burden, enhance ecological val

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bac3edf9feac1011dfb3388a13f41c8b
http://hdl.handle.net/2066/291161