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527 results

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The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development.
Heslop E, Csimma C, Straub V, McCall J, Nagaraju K, Wagner KR, Caizergues D, Korinthenberg R, Flanigan KM, Kaufmann P, McNeil E, Mendell J, Hesterlee S, Wells DJ, Bushby K; TACT. Heslop E, et al. Among authors: straub v. Orphanet J Rare Dis. 2015 Apr 23;10:49. doi: 10.1186/s13023-015-0258-1. Orphanet J Rare Dis. 2015. PMID: 25902795 Free PMC article. Review.
Towards harmonisation of outcome measures for DMD and SMA within TREAT-NMD; report of three expert workshops: TREAT-NMD/ENMC workshop on outcome measures, 12th--13th May 2007, Naarden, The Netherlands; TREAT-NMD workshop on outcome measures in experimental trials for DMD, 30th June--1st July 2007, Naarden, The Netherlands; conjoint Institute of Myology TREAT-NMD meeting on physical activity monitoring in neuromuscular disorders, 11th July 2007, Paris, France.
Mercuri E, Mayhew A, Muntoni F, Messina S, Straub V, Van Ommen GJ, Voit T, Bertini E, Bushby K; TREAT-NMD Neuromuscular Network. Mercuri E, et al. Among authors: straub v. Neuromuscul Disord. 2008 Nov;18(11):894-903. doi: 10.1016/j.nmd.2008.07.003. Epub 2008 Sep 24. Neuromuscul Disord. 2008. PMID: 18818076 No abstract available.
A decade of optimizing drug development for rare neuromuscular disorders through TACT.
Wagner KR, De Luca A, Caizergues D, Dowling J, Goemans N, Gordish-Dressman H, Grounds MD, Kelly M, Mayhew A, McNally EM, Zoetis T, Lee J, Turner C, Wells DJ, Csimma C, Straub V. Wagner KR, et al. Among authors: straub v. Nat Rev Drug Discov. 2020 Jan;19(1):1-2. doi: 10.1038/d41573-019-00199-1. Nat Rev Drug Discov. 2020. PMID: 31907422 No abstract available.
Paediatric-specific content in data standards for health.
Turner MA, Kalra D, Cornet R, Palmeri A, Sen A, Owen J, Pansieri C, Lee J, Hedley V, Nally S, Bonifazi F, Leary R, Straub V. Turner MA, et al. Among authors: straub v. Arch Dis Child. 2025 Jan 23:archdischild-2024-327931. doi: 10.1136/archdischild-2024-327931. Online ahead of print. Arch Dis Child. 2025. PMID: 39848700 Free article. No abstract available.
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S, Steyaert W, de Boer E, Polavarapu K, Schuermans N, Sommer AK, Demidov G, Ellwanger K, Paramonov I, Thomas C, Aretz S, Baets J, Benetti E, Bullich G, Chinnery PF, Clayton-Smith J, Cohen E, Danis D, de Sainte Agathe JM, Denommé-Pichon AS, Diaz-Manera J, Efthymiou S, Faivre L, Fernandez-Callejo M, Freeberg M, Garcia-Pelaez J, Guillot-Noel L, Haack TB, Hanna M, Hengel H, Horvath R, Houlden H, Jackson A, Johansson L, Johari M, Kamsteeg EJ, Kellner M, Kleefstra T, Lacombe D, Lochmüller H, López-Martín E, Macaya A, Marcé-Grau A, Maver A, Morsy H, Muntoni F, Musacchia F, Nelson I, Nigro V, Olimpio C, Oliveira C, Paulasová Schwabová J, Pauly MG, Peterlin B, Peters S, Pfundt R, Piluso G, Piscia D, Posada M, Reich S, Renieri A, Ryba L, Šablauskas K, Savarese M, Schöls L, Schütz L, Steinke-Lange V, Stevanin G, Straub V, Sturm M, Swertz MA, Tartaglia M, Te Paske IBAW, Thompson R, Torella A, Trainor C, Udd B, Van de Vondel L, van de Warrenburg B, van Reeuwijk J, Vandrovcova J, Vitobello A, Vos J, Vyhnálková E, Wijngaard R, Wilke C, William D, Xu J, Yaldiz B, Zalatnai L, Zurek B; Solve-RD DITF-GENTURIS; Solve-RD DITF-ITHACA; Solve-RD DITF-EURO-NMD; Solve-RD DITF-RND; Solve-RD co… See abstract for full author list ➔ Laurie S, et al. Among authors: straub v. Nat Med. 2025 Jan 17. doi: 10.1038/s41591-024-03420-w. Online ahead of print. Nat Med. 2025. PMID: 39825153
Clinical and imaging spectrum of non-congenital dominant ACTN2 myopathy.
Iruzubieta P, Verdú-Díaz J, Töpf A, Luce L, Claeys KG, De Ridder W, González-Quereda L, de Fuenmayor-Fernández de la Hoz CP, Poza JJ, Zulaica M, de Jonghe P, Duff J, Mroczek M, Martín-Jiménez P, Hernández-Laín A, Domínguez-González C, Baets J, Gallano P, Díaz-Manera J, Straub V, López de Munain A, Fernandez-Torron R. Iruzubieta P, et al. Among authors: straub v. J Neurol. 2025 Jan 15;272(2):150. doi: 10.1007/s00415-025-12893-9. J Neurol. 2025. PMID: 39812845
Safety and Efficacy of IV Onasemnogene Abeparvovec for Pediatric Patients With Spinal Muscular Atrophy: The Phase 3b SMART Study.
McMillan HJ, Baranello G, Farrar MA, Zaidman CM, Moreno T, De Waele L, Jong YJ, Laugel V, Quijano-Roy S, Mercuri E, Chien YH, Straub V, Darras BT, Seibert J, Bernardo Escudero R, Alecu I, Freischläger F, Muntoni F; SMART Study Group. McMillan HJ, et al. Among authors: straub v. Neurology. 2025 Jan 28;104(2):e210268. doi: 10.1212/WNL.0000000000210268. Epub 2024 Dec 30. Neurology. 2025. PMID: 39804575 Free PMC article. Clinical Trial.
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