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Quality of life and support needs in children, adolescents, and young adults with facioscapulohumeral dystrophy, a mixed-method study.
Dijkstra JN, Rasing NB, Boon HTM, Altena-Rensen S, Cup EHC, Lanser A, Siemann IJ, van Engelen BG, Erasmus CE, Voermans NC. Dijkstra JN, et al. Among authors: van engelen bg. Eur J Paediatr Neurol. 2024 Apr 21;50:64-73. doi: 10.1016/j.ejpn.2024.04.006. Online ahead of print. Eur J Paediatr Neurol. 2024. PMID: 38692157 Free article.
Safety and efficacy of losmapimod in facioscapulohumeral muscular dystrophy (ReDUX4): a randomised, double-blind, placebo-controlled phase 2b trial.
Tawil R, Wagner KR, Hamel JI, Leung DG, Statland JM, Wang LH, Genge A, Sacconi S, Lochmüller H, Reyes-Leiva D, Diaz-Manera J, Alonso-Perez J, Muelas N, Vilchez JJ, Pestronk A, Gibson S, Goyal NA, Hayward LJ, Johnson N, LoRusso S, Freimer M, Shieh PB, Subramony SH, van Engelen B, Kools J, Leinhard OD, Widholm P, Morabito C, Moxham CM, Cadavid D, Mellion ML, Odueyungbo A, Tracewell WG, Accorsi A, Ronco L, Gould RJ, Shoskes J, Rojas LA, Jiang JG. Tawil R, et al. Among authors: van engelen b. Lancet Neurol. 2024 May;23(5):477-486. doi: 10.1016/S1474-4422(24)00073-5. Lancet Neurol. 2024. PMID: 38631764 Clinical Trial.
The capability approach in rehabilitation: developing capability care.
Pijpers EJ, Bloemen B, Cup EHC, Groothuis JT, Oortwijn WJ, van Engelen BGM, van der Wilt GJ. Pijpers EJ, et al. Among authors: van engelen bgm. Disabil Rehabil. 2024 Apr 16:1-13. doi: 10.1080/09638288.2024.2342494. Online ahead of print. Disabil Rehabil. 2024. PMID: 38625146
Treatment Approaches for Altered Facial Expression: A Systematic Review in Facioscapulohumeral Muscular Dystrophy and Other Neurological Diseases.
Rasing NB, van de Geest-Buit WA, Chan OYA, Mul K, Lanser A, van Engelen BGM, Erasmus CE, Fischer AH, Ingels KJAO, Post B, Siemann I, Groothuis JT, Voermans NC. Rasing NB, et al. Among authors: van engelen bgm. J Neuromuscul Dis. 2024;11(3):535-565. doi: 10.3233/JND-230213. J Neuromuscul Dis. 2024. PMID: 38517799 Free PMC article.
An up-to-date myopathologic characterisation of facioscapulohumeral muscular dystrophy type 1 muscle biopsies shows sarcolemmal complement membrane attack complex deposits and increased skeletal muscle regeneration.
Hubregtse L, Bouman K, Lama C, Lassche S, de Graaf N, Taglietti V, Küsters B, Periou B, Relaix F, van Engelen B, Authier FJ, Voermans NC, Malfatti E. Hubregtse L, et al. Among authors: van engelen b. Neuromuscul Disord. 2024 Mar;36:6-15. doi: 10.1016/j.nmd.2024.01.003. Epub 2024 Jan 14. Neuromuscul Disord. 2024. PMID: 38306719 Free article.
KBTBD13 is an actin-binding protein that modulates muscle kinetics.
de Winter JM, Molenaar JP, Yuen M, van der Pijl R, Shen S, Conijn S, van de Locht M, Willigenburg M, Bogaards SJ, van Kleef ES, Lassche S, Persson M, Rassier DE, Sztal TE, Ruparelia AA, Oorschot V, Ramm G, Hall TE, Xiong Z, Johnson CN, Li F, Kiss B, Lozano-Vidal N, Boon RA, Marabita M, Nogara L, Blaauw B, Rodenburg RJ, Küsters B, Doorduin J, Beggs AH, Granzier H, Campbell K, Ma W, Irving T, Malfatti E, Romero NB, Bryson-Richardson RJ, van Engelen BG, Voermans NC, Ottenheijm CA. de Winter JM, et al. Among authors: van engelen bg. J Clin Invest. 2024 Feb 1;134(3):e179111. doi: 10.1172/JCI179111. J Clin Invest. 2024. PMID: 38299595 Free PMC article. No abstract available.
646 results