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EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders.
Atalaia A, Wandrei D, Lalout N, Thompson R, Tassoni A, 't Hoen PAC, Athanasiou D, Baker SA, Sakellariou P, Paliouras G, D'Angelo C, Horvath R, Mancuso M, van der Beek N, Kornblum C, Kirschner J, Pareyson D, Bassez G, Blacas L, Jacoupy M, Eng C, Lamy F, Plançon JP, Haberlova J, Brusse E, Hoeijmakers JGJ, de Visser M, Claeys KG, Paradas C, Toscano A, Silani V, Gyenge M, Reviers E, Hamroun D, Vroom E, Wilkinson MD, Lochmuller H, Evangelista T. Atalaia A, et al. Among authors: van der beek n. Orphanet J Rare Dis. 2024 Feb 14;19(1):66. doi: 10.1186/s13023-024-03059-3. Orphanet J Rare Dis. 2024. PMID: 38355534 Free PMC article. Review.
Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study.
de Vries JM, van der Beek NA, Hop WC, Karstens FP, Wokke JH, de Visser M, van Engelen BG, Kuks JB, van der Kooi AJ, Notermans NC, Faber CG, Verschuuren JJ, Kruijshaar ME, Reuser AJ, van Doorn PA, van der Ploeg AT. de Vries JM, et al. Orphanet J Rare Dis. 2012 Sep 26;7:73. doi: 10.1186/1750-1172-7-73. Orphanet J Rare Dis. 2012. PMID: 23013746 Free PMC article.
Clinical features and predictors for disease natural progression in adults with Pompe disease: a nationwide prospective observational study.
van der Beek NA, de Vries JM, Hagemans ML, Hop WC, Kroos MA, Wokke JH, de Visser M, van Engelen BG, Kuks JB, van der Kooi AJ, Notermans NC, Faber KG, Verschuuren JJ, Reuser AJ, van der Ploeg AT, van Doorn PA. van der Beek NA, et al. Orphanet J Rare Dis. 2012 Nov 12;7:88. doi: 10.1186/1750-1172-7-88. Orphanet J Rare Dis. 2012. PMID: 23147228 Free PMC article.
Phenotypical variation within 22 families with Pompe disease.
Wens SC, van Gelder CM, Kruijshaar ME, de Vries JM, van der Beek NA, Reuser AJ, van Doorn PA, van der Ploeg AT, Brusse E. Wens SC, et al. Orphanet J Rare Dis. 2013 Nov 19;8:182. doi: 10.1186/1750-1172-8-182. Orphanet J Rare Dis. 2013. PMID: 24245577 Free PMC article.
Imaging of respiratory muscles in neuromuscular disease: A review.
Harlaar L, Ciet P, van der Ploeg AT, Brusse E, van der Beek NAME, Wielopolski PA, de Bruijne M, Tiddens HAWM, van Doorn PA. Harlaar L, et al. Among authors: van der ploeg at, van doorn pa, van der beek name. Neuromuscul Disord. 2018 Mar;28(3):246-256. doi: 10.1016/j.nmd.2017.11.010. Epub 2017 Nov 24. Neuromuscul Disord. 2018. PMID: 29398294 Review.
Cardiovascular disease in non-classic Pompe disease: A systematic review.
van Kooten HA, Roelen CHA, Brusse E, van der Beek NAME, Michels M, van der Ploeg AT, Wagenmakers MAEM, van Doorn PA. van Kooten HA, et al. Among authors: van der ploeg at, van doorn pa, van der beek name. Neuromuscul Disord. 2021 Feb;31(2):79-90. doi: 10.1016/j.nmd.2020.10.009. Epub 2020 Nov 9. Neuromuscul Disord. 2021. PMID: 33386209 Free article.
Chest MRI to diagnose early diaphragmatic weakness in Pompe disease.
Harlaar L, Ciet P, van Tulder G, Pittaro A, van Kooten HA, van der Beek NAME, Brusse E, Wielopolski PA, de Bruijne M, van der Ploeg AT, Tiddens HAWM, van Doorn PA. Harlaar L, et al. Orphanet J Rare Dis. 2021 Jan 7;16(1):21. doi: 10.1186/s13023-020-01627-x. Orphanet J Rare Dis. 2021. PMID: 33413525 Free PMC article.
Diaphragmatic dysfunction in neuromuscular disease, an MRI study.
Harlaar L, Ciet P, van Tulder G, Brusse E, Timmermans RGM, Janssen WGM, de Bruijne M, van der Ploeg AT, Tiddens HAWM, van Doorn PA, van der Beek NAME. Harlaar L, et al. Neuromuscul Disord. 2022 Jan;32(1):15-24. doi: 10.1016/j.nmd.2021.11.001. Epub 2021 Nov 9. Neuromuscul Disord. 2022. PMID: 34973872 Free article.
79 results