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Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease.
Wood L, Bassez G, Bleyenheuft C, Campbell C, Cossette L, Jimenez-Moreno AC, Dai Y, Dawkins H, Manera JAD, Dogan C, El Sherif R, Fossati B, Graham C, Hilbert J, Kastreva K, Kimura E, Korngut L, Kostera-Pruszczyk A, Lindberg C, Lindvall B, Luebbe E, Lusakowska A, Mazanec R, Meola G, Orlando L, Takahashi MP, Peric S, Puymirat J, Rakocevic-Stojanovic V, Rodrigues M, Roxburgh R, Schoser B, Segovia S, Shatillo A, Thiele S, Tournev I, van Engelen B, Vohanka S, Lochmüller H. Wood L, et al. Among authors: hilbert j. Orphanet J Rare Dis. 2018 Sep 5;13(1):155. doi: 10.1186/s13023-018-0889-0. Orphanet J Rare Dis. 2018. PMID: 30185236 Free PMC article.
Correction to: Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease.
Wood L, Bassez G, Bleyenheuft C, Campbell C, Cossette L, Jimenez-Moreno AC, Dai Y, Dawkins H, Díaz-Manera J, Dogan C, El Sherif R, Fossati B, Graham C, Hilbert J, Kastreva K, Kimura E, Korngut L, Kostera-Pruszczyk A, Lindberg C, Lindvall B, Luebbe E, Lusakowska A, Mazanec R, Meola G, Orlando L, Takahashi MP, Peric S, Puymirat J, Rakocevic-Stojanovic V, Rodrigues M, Roxburgh R, Schoser B, Segovia S, Shatillo A, Thiele S, Tournev I, van Engelen B, Vohanka S, Lochmüller H. Wood L, et al. Among authors: hilbert j. Orphanet J Rare Dis. 2019 Aug 15;14(1):199. doi: 10.1186/s13023-019-1157-7. Orphanet J Rare Dis. 2019. PMID: 31416449 Free PMC article.
Survival patterns and cancer determinants in families with myotonic dystrophy type 1.
Best AF, Hilbert JE, Wood L, Martens WB, Nikolenko N, Marini-Bettolo C, Lochmüller H, Rosenberg PS, Moxley RT 3rd, Greene MH, Gadalla SM. Best AF, et al. Among authors: hilbert je. Eur J Neurol. 2019 Jan;26(1):58-65. doi: 10.1111/ene.13763. Epub 2018 Sep 16. Eur J Neurol. 2019. PMID: 30051542 Free PMC article.
Consensus-based care recommendations for adults with myotonic dystrophy type 2.
Schoser B, Montagnese F, Bassez G, Fossati B, Gamez J, Heatwole C, Hilbert J, Kornblum C, Kostera-Pruszczyk A, Krahe R, Lusakowska A, Meola G, Moxley R 3rd, Thornton C, Udd B, Formaker P; Myotonic Dystrophy Foundation. Schoser B, et al. Among authors: hilbert j. Neurol Clin Pract. 2019 Aug;9(4):343-353. doi: 10.1212/CPJ.0000000000000645. Neurol Clin Pract. 2019. PMID: 31583190 Free PMC article. Review.
Diagnostic odyssey of patients with myotonic dystrophy.
Hilbert JE, Ashizawa T, Day JW, Luebbe EA, Martens WB, McDermott MP, Tawil R, Thornton CA, Moxley RT 3rd. Hilbert JE, et al. J Neurol. 2013 Oct;260(10):2497-504. doi: 10.1007/s00415-013-6993-0. Epub 2013 Jun 27. J Neurol. 2013. PMID: 23807151 Free PMC article.
Milestones of progression in myotonic dystrophy type 1 and type 2.
Hamel JI, McDermott MP, Hilbert JE, Martens WB, Luebbe E, Tawil R, Moxley RT 3rd, Thornton CA. Hamel JI, et al. Among authors: hilbert je. Muscle Nerve. 2022 Oct;66(4):508-512. doi: 10.1002/mus.27674. Epub 2022 Jul 21. Muscle Nerve. 2022. PMID: 35778789
Patient-Reported Impact of Symptoms in Myotonic Dystrophy Type 2 (PRISM-2).
Heatwole C, Johnson N, Bode R, Dekdebrun J, Dilek N, Hilbert JE, Luebbe E, Martens W, McDermott MP, Quinn C, Rothrock N, Thornton C, Vickrey BG, Victorson D, Moxley RT 3rd. Heatwole C, et al. Among authors: hilbert je. Neurology. 2015 Dec 15;85(24):2136-46. doi: 10.1212/WNL.0000000000002225. Epub 2015 Nov 18. Neurology. 2015. PMID: 26581301 Free PMC article.
178 results