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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. Neurol Clin Pract. 2018 Dec;8(6):507-520. doi: 10.1212/CPJ.0000000000000531. Neurol Clin Pract. 2018. PMID: 30588381 Free PMC article. Review.
Transcriptome alterations in myotonic dystrophy frontal cortex.
Otero BA, Poukalov K, Hildebrandt RP, Thornton CA, Jinnai K, Fujimura H, Kimura T, Hagerman KA, Sampson JB, Day JW, Wang ET. Otero BA, et al. Among authors: sampson jb. Cell Rep. 2021 Jan 19;34(3):108634. doi: 10.1016/j.celrep.2020.108634. Cell Rep. 2021. PMID: 33472074 Free PMC article.
Nusinersen Treatment in Adults With Spinal Muscular Atrophy.
Duong T, Wolford C, McDermott MP, Macpherson CE, Pasternak A, Glanzman AM, Martens WB, Kichula E, Darras BT, De Vivo DC, Zolkipli-Cunningham Z, Finkel RS, Zeineh M, Wintermark M, Sampson J, Hagerman KA, Young SD, Day JW. Duong T, et al. Neurol Clin Pract. 2021 Jun;11(3):e317-e327. doi: 10.1212/CPJ.0000000000001033. Neurol Clin Pract. 2021. PMID: 34476123 Free PMC article.
Brief assessment of cognitive function in myotonic dystrophy: Multicenter longitudinal study using computer-assisted evaluation.
Deutsch GK, Hagerman KA, Sampson J, Dent G, Dekdebrun J, Parker DM, Thornton CA, Heatwole CR, Subramony SH, Mankodi AK, Ashizawa T, Statland JM, Arnold WD, Moxley RT 3rd, Day JW; Myotonic Dystrophy Clinical Research Network. Deutsch GK, et al. Muscle Nerve. 2022 May;65(5):560-567. doi: 10.1002/mus.27520. Epub 2022 Feb 28. Muscle Nerve. 2022. PMID: 35179228 Free PMC article.
Choroid plexus mis-splicing and altered cerebrospinal fluid composition in myotonic dystrophy type 1.
Nutter CA, Kidd BM, Carter HA, Hamel JI, Mackie PM, Kumbkarni N, Davenport ML, Tuyn DM, Gopinath A, Creigh PD, Sznajder ŁJ, Wang ET, Ranum LPW, Khoshbouei H, Day JW, Sampson JB, Prokop S, Swanson MS. Nutter CA, et al. Among authors: sampson jb. Brain. 2023 Oct 3;146(10):4217-4232. doi: 10.1093/brain/awad148. Brain. 2023. PMID: 37143315 Free PMC article.
164 results