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51 results

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Page 1
Ataluren treatment of patients with nonsense mutation dystrophinopathy.
Bushby K, Finkel R, Wong B, Barohn R, Campbell C, Comi GP, Connolly AM, Day JW, Flanigan KM, Goemans N, Jones KJ, Mercuri E, Quinlivan R, Renfroe JB, Russman B, Ryan MM, Tulinius M, Voit T, Moore SA, Lee Sweeney H, Abresch RT, Coleman KL, Eagle M, Florence J, Gappmaier E, Glanzman AM, Henricson E, Barth J, Elfring GL, Reha A, Spiegel RJ, O'donnell MW, Peltz SW, Mcdonald CM; PTC124-GD-007-DMD STUDY GROUP. Bushby K, et al. Muscle Nerve. 2014 Oct;50(4):477-87. doi: 10.1002/mus.24332. Muscle Nerve. 2014. PMID: 25042182 Free PMC article. Clinical Trial.
Natural Course of Cerebral Cavernous Malformations in Children: A Five-Year Follow-Up Study.
Santos AN, Rauschenbach L, Saban D, Chen B, Herten A, Dinger TF, Li Y, Tippelt S, Della Marina A, Dohna-Schwake C, Schmidt B, Jabbarli R, Wrede KH, Sure U, Dammann P. Santos AN, et al. Among authors: della marina a. Stroke. 2022 Mar;53(3):817-824. doi: 10.1161/STROKEAHA.121.035338. Epub 2021 Oct 28. Stroke. 2022. PMID: 34706565 Clinical Trial.
Identification of a novel homozygous synthesis of cytochrome c oxidase 2 variant in siblings with early-onset axonal Charcot-Marie-Tooth disease.
Gangfuß A, Hentschel A, Rademacher N, Sickmann A, Stüve B, Horvath R, Gross C, Kohlschmidt N, Förster F, Abicht A, Schänzer A, Schara-Schmidt U, Roos A, Della Marina A. Gangfuß A, et al. Among authors: della marina a. Hum Mutat. 2022 Apr;43(4):477-486. doi: 10.1002/humu.24338. Epub 2022 Feb 16. Hum Mutat. 2022. PMID: 35112411
Characterization of aEEG During Sleep and Wakefulness in Healthy Children.
Löffelhardt VT, Della Marina A, Greve S, Müller H, Felderhoff-Müser U, Dohna-Schwake C, Bruns N. Löffelhardt VT, et al. Among authors: della marina a. Front Pediatr. 2022 Jan 21;9:773188. doi: 10.3389/fped.2021.773188. eCollection 2021. Front Pediatr. 2022. PMID: 35127587 Free PMC article.
Development of restrictive eating disorders in children and adolescents with long-COVID-associated smell and taste dysfunction.
Brasseler M, Schönecker A, Steindor M, Della Marina A, Bruns N, Dogan B, Felderhoff-Müser U, Hebebrand J, Dohna-Schwake C, Goretzki SC. Brasseler M, et al. Among authors: della marina a. Front Pediatr. 2022 Nov 24;10:1022669. doi: 10.3389/fped.2022.1022669. eCollection 2022. Front Pediatr. 2022. PMID: 36518782 Free PMC article.
Improvements in Walking Distance during Nusinersen Treatment - A Prospective 3-year SMArtCARE Registry Study.
Pechmann A, Behrens M, Dörnbrack K, Tassoni A, Wenzel F, Stein S, Vogt S, Zöller D, Bernert G, Hagenacker T, Schara-Schmidt U, Walter MC, Steinbach M, Blaschek A, Baumann M, Baumgartner M, Becker B, Flotats-Bastardas M, Friese J, Günther R, Hahn A, Küpper H, Johannsen J, Kamm C, Koch JC, Köhler C, Kölbel H, Kolzter K, von Moers A, Naegel S, Neuwirth C, Petri S, Rödiger A, Schimmel M, Schrank B, Schreiber G, Smitka M, Stadler C, Steiner E, Stögmann E, Trollmann R, Türk M, Weiler M, Stoltenburg C, Willichowsky E, Zeller D, Ziegler A, Lochmüller H, Kirschner J; SMArtCARE Study Group. Pechmann A, et al. J Neuromuscul Dis. 2023;10(1):29-40. doi: 10.3233/JND-221600. J Neuromuscul Dis. 2023. PMID: 36565133 Free PMC article.
Giant Cavernous Malformation Mimicking an Infiltrative Intracranial Neoplasm in Children-Case Report and Systematic Review of the Literature.
González-Gallardo E, Rauschenbach L, Santos AN, Riess C, Li Y, Tippelt S, Della Marina A, Dohna-Schwake C, Sure U, Dammann P. González-Gallardo E, et al. Among authors: della marina a. World Neurosurg. 2023 Jun;174:30-41. doi: 10.1016/j.wneu.2023.02.135. Epub 2023 Mar 6. World Neurosurg. 2023. PMID: 36889633 Review.
51 results