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Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, Elmslie F, Finanger E, Hainline BE, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach ME, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin HP, Roeder E, Roy S, Sapp K, Saade D, Sisodiya SM, Stals K, Towner S, Wilson W; Deciphering Developmental Disorders; Genomics England Research Consortium; Undiagnosed Disease Network; Khokha MK, Bönnemann CG, Lucas CL, Lakhani SA. Jeffries L, et al. Among authors: finanger e. Genet Med. 2024 Feb;26(2):101023. doi: 10.1016/j.gim.2023.101023. Epub 2023 Nov 7. Genet Med. 2024. PMID: 37947183
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.
Foley AR, Bolduc V, Guirguis F, Donkervoort S, Hu Y, Orbach R, McCarty RM, Sarathy A, Norato G, Cummings BB, Lek M, Sarkozy A, Butterfield RJ, Kirschner J, Nascimento A, Benito DN, Quijano-Roy S, Stojkovic T, Merlini L, Comi G, Ryan M, McDonald D, Munot P, Yoon G, Leung E, Finanger E, Leach ME, Collins J, Tian C, Mohassel P, Neuhaus SB, Saade D, Cocanougher BT, Chu ML, Scavina M, Grosmann C, Richardson R, Kossak BD, Gospe SM Jr, Bhise V, Taurina G, Lace B, Troncoso M, Shohat M, Shalata A, Chan SHS, Jokela M, Palmio J, Haliloğlu G, Jou C, Gartioux C, Solomon-Degefa H, Freiburg CD, Schiavinato A, Zhou H, Aguti S, Nevo Y, Nishino I, Jimenez-Mallebrera C, Lamandé SR, Allamand V, Gualandi F, Ferlini A, MacArthur DG, Wilton SD, Wagener R, Bertini E, Muntoni F, Bönnemann CG. Foley AR, et al. Among authors: finanger e. medRxiv [Preprint]. 2024 Mar 29:2024.03.29.24304673. doi: 10.1101/2024.03.29.24304673. medRxiv. 2024. PMID: 38585825 Free PMC article. Preprint.
Clinical importance of changes in magnetic resonance biomarkers for Duchenne muscular dystrophy.
Willcocks RJ, Barnard AM, Daniels MJ, Forbes SC, Triplett WT, Brandsema JF, Finanger EL, Rooney WD, Kim S, Wang DJ, Lott DJ, Senesac CR, Walter GA, Sweeney HL, Vandenborne K. Willcocks RJ, et al. Among authors: finanger el. Ann Clin Transl Neurol. 2024 Jan;11(1):67-78. doi: 10.1002/acn3.51933. Epub 2023 Nov 6. Ann Clin Transl Neurol. 2024. PMID: 37932907 Free PMC article.
Step Activity Monitoring in Boys with Duchenne Muscular Dystrophy and its Correlation with Magnetic Resonance Measures and Functional Performance.
Nair KS, Lott DJ, Forbes SC, Barnard AM, Willcocks RJ, Senesac CR, Daniels MJ, Harrington AT, Tennekoon GI, Zilke K, Finanger EL, Finkel RS, Rooney WD, Walter GA, Vandenborne K. Nair KS, et al. Among authors: finanger el. J Neuromuscul Dis. 2022;9(3):423-436. doi: 10.3233/JND-210746. J Neuromuscul Dis. 2022. PMID: 35466946 Free PMC article.
Development of Contractures in DMD in Relation to MRI-Determined Muscle Quality and Ambulatory Function.
Willcocks RJ, Barnard AM, Wortman RJ, Senesac CR, Lott DJ, Harrington AT, Zilke KL, Forbes SC, Rooney WD, Wang DJ, Finanger EL, Tennekoon GI, Daniels MJ, Triplett WT, Walter GA, Vandenborne K. Willcocks RJ, et al. Among authors: finanger el. J Neuromuscul Dis. 2022;9(2):289-302. doi: 10.3233/JND-210731. J Neuromuscul Dis. 2022. PMID: 35124659 Free PMC article.
Meta-analyses of deflazacort versus prednisone/prednisolone in patients with nonsense mutation Duchenne muscular dystrophy.
Shieh PB, Elfring G, Trifillis P, Santos C, Peltz SW, Parsons JA, Apkon S, Darras BT, Campbell C, McDonald CM; Members of the Ataluren Phase IIb Study Group; Members of the Ataluren Phase IIb Study Clinical Evaluator Training Group; Members of the ACT DMD Study Group; Members of the ACT DMD Clinical Evaluator Training Group. Shieh PB, et al. J Comp Eff Res. 2021 Dec;10(18):1337-1347. doi: 10.2217/cer-2021-0018. Epub 2021 Oct 25. J Comp Eff Res. 2021. PMID: 34693725 Free article.
A Randomized, Double-Blind, Placebo-Controlled, Global Phase 3 Study of Edasalonexent in Pediatric Patients with Duchenne Muscular Dystrophy: Results of the PolarisDMD Trial.
Finkel RS, McDonald CM, Lee Sweeney H, Finanger E, Neil Knierbein E, Wagner KR, Mathews KD, Marks W, Statland J, Nance J, McMillan HJ, McCullagh G, Tian C, Ryan MM, O'Rourke D, Müller-Felber W, Tulinius M, Burnette WB, Nguyen CT, Vijayakumar K, Johannsen J, Phan HC, Eagle M, MacDougall J, Mancini M, Donovan JM; (For the PolarisDMD Study Group). Finkel RS, et al. Among authors: finanger e. J Neuromuscul Dis. 2021;8(5):769-784. doi: 10.3233/JND-210689. J Neuromuscul Dis. 2021. PMID: 34120912 Free PMC article. Clinical Trial.
Disease-modifying effects of edasalonexent, an NF-κB inhibitor, in young boys with Duchenne muscular dystrophy: Results of the MoveDMD phase 2 and open label extension trial.
Finkel RS, Finanger E, Vandenborne K, Sweeney HL, Tennekoon G, Shieh PB, Willcocks R, Walter G, Rooney WD, Forbes SC, Triplett WT, Yum SW, Mancini M, MacDougall J, Fretzen A, Bista P, Nichols A, Donovan JM. Finkel RS, et al. Among authors: finanger e. Neuromuscul Disord. 2021 May;31(5):385-396. doi: 10.1016/j.nmd.2021.02.001. Epub 2021 Feb 4. Neuromuscul Disord. 2021. PMID: 33678513 Free article. Clinical Trial.
Spinal Muscular Atrophy.
Prior TW, Leach ME, Finanger E. Prior TW, et al. Among authors: finanger e. 2000 Feb 24 [updated 2020 Dec 3]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2000 Feb 24 [updated 2020 Dec 3]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301526 Free Books & Documents. Review.
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