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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: erasmus ce. 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.
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: erasmus ce. J Neuromuscul Dis. 2024;11(3):535-565. doi: 10.3233/JND-230213. J Neuromuscul Dis. 2024. PMID: 38517799 Free PMC article.
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.
Töpf A, Cox D, Zaharieva IT, Di Leo V, Sarparanta J, Jonson PH, Sealy IM, Smolnikov A, White RJ, Vihola A, Savarese M, Merteroglu M, Wali N, Laricchia KM, Venturini C, Vroling B, Stenton SL, Cummings BB, Harris E, Marini-Bettolo C, Diaz-Manera J, Henderson M, Barresi R, Duff J, England EM, Patrick J, Al-Husayni S, Biancalana V, Beggs AH, Bodi I, Bommireddipalli S, Bönnemann CG, Cairns A, Chiew MT, Claeys KG, Cooper ST, Davis MR, Donkervoort S, Erasmus CE, Fassad MR, Genetti CA, Grosmann C, Jungbluth H, Kamsteeg EJ, Lornage X, Löscher WN, Malfatti E, Manzur A, Martí P, Mongini TE, Muelas N, Nishikawa A, O'Donnell-Luria A, Ogonuki N, O'Grady GL, O'Heir E, Paquay S, Phadke R, Pletcher BA, Romero NB, Schouten M, Shah S, Smuts I, Sznajer Y, Tasca G, Taylor RW, Tuite A, Van den Bergh P, VanNoy G, Voermans NC, Wanschitz JV, Wraige E, Yoshimura K, Oates EC, Nakagawa O, Nishino I, Laporte J, Vilchez JJ, MacArthur DG, Sarkozy A, Cordell HJ, Udd B, Busch-Nentwich EM, Muntoni F, Straub V. Töpf A, et al. Among authors: erasmus ce. Nat Genet. 2024 Mar;56(3):395-407. doi: 10.1038/s41588-023-01651-0. Epub 2024 Mar 1. Nat Genet. 2024. PMID: 38429495 Free PMC article.
Bone quality in LAMA2-related muscular dystrophy and SELENON-related congenital myopathy, a one-year prospective natural history study.
Bouman K, Dittrich ATM, Groothuis JT, van Engelen BGM, Zweers-van Essen H, de Baaij-Daalmeyer A, Janssen MCH, Erasmus CE, Draaisma JMT, Voermans NC. Bouman K, et al. Among authors: erasmus ce. Neuromuscul Disord. 2024 Jan;34:105-113. doi: 10.1016/j.nmd.2023.11.008. Epub 2023 Dec 2. Neuromuscul Disord. 2024. PMID: 38160563 Free article.
131 results