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Consensus-based care recommendations for adults with myotonic dystrophy type 1.
Ashizawa T, Gagnon C, Groh WJ, Gutmann L, Johnson NE, Meola G, Moxley R 3rd, Pandya S, Rogers MT, Simpson E, Angeard N, Bassez G, Berggren KN, Bhakta D, Bozzali M, Broderick A, Byrne JLB, Campbell C, Cup E, Day JW, De Mattia E, Duboc D, Duong T, Eichinger K, Ekstrom AB, van Engelen B, Esparis B, Eymard B, Ferschl M, Gadalla SM, Gallais B, Goodglick T, Heatwole C, Hilbert J, Holland V, Kierkegaard M, Koopman WJ, Lane K, Maas D, Mankodi A, Mathews KD, Monckton DG, Moser D, Nazarian S, Nguyen L, Nopoulos P, Petty R, Phetteplace J, Puymirat J, Raman S, Richer L, Roma E, Sampson J, Sansone V, Schoser B, Sterling L, Statland J, Subramony SH, Tian C, Trujillo C, Tomaselli G, Turner C, Venance S, Verma A, White M, Winblad S. Ashizawa T, et al. Among authors: maas d. Neurol Clin Pract. 2018 Dec;8(6):507-520. doi: 10.1212/CPJ.0000000000000531. Neurol Clin Pract. 2018. PMID: 30588381 Free PMC article. Review.
Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international study group.
Lucia A, Martinuzzi A, Nogales-Gadea G, Quinlivan R, Reason S; International Association for Muscle Glycogen Storage Disease study group. Lucia A, et al. Neuromuscul Disord. 2021 Dec;31(12):1296-1310. doi: 10.1016/j.nmd.2021.10.006. Epub 2021 Oct 28. Neuromuscul Disord. 2021. PMID: 34848128 Free article. No abstract available.
Oral ribose supplementation in dystroglycanopathy: A single case study.
Thewissen RMJ, Post MA, Maas DM, Veizaj R, Wagenaar I, Alsady M, Kools J, Bouman K, Zweers H, Meregalli PG, van der Kooi AJ, van Doorn PA, Groothuis JT, Lefeber DJ, Voermans NC. Thewissen RMJ, et al. Among authors: maas dm. JIMD Rep. 2024 Mar 4;65(3):171-181. doi: 10.1002/jmd2.12394. eCollection 2024 May. JIMD Rep. 2024. PMID: 38736632 Free PMC article.
Toward an Understanding of GSD5 (McArdle disease): How Do Individuals Learn to Live with the Metabolic Defect in Daily Life.
Karazi W, Coppers J, Maas D, Cup E, Bloemen B, Voet N, Groothuis JT, Pinós T, Marti Seves R, Quinlivan R, Løkken N, Vissing J, Bhai S, Wakelin A, Reason S, Voermans NC. Karazi W, et al. Among authors: maas d. J Neuromuscul Dis. 2024;11(1):103-116. doi: 10.3233/JND-230027. J Neuromuscul Dis. 2024. PMID: 38108358 Free PMC article.
169 results