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Year Number of Results
2002 1
2004 1
2005 1
2006 1
2008 3
2009 1
2010 1
2011 1
2013 4
2014 4
2015 2
2016 2
2017 1
2018 1
2019 3
2020 4
2021 6
2022 2
2023 2
2024 1

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Page 1
Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial.
Mercuri E, Deconinck N, Mazzone ES, Nascimento A, Oskoui M, Saito K, Vuillerot C, Baranello G, Boespflug-Tanguy O, Goemans N, Kirschner J, Kostera-Pruszczyk A, Servais L, Gerber M, Gorni K, Khwaja O, Kletzl H, Scalco RS, Staunton H, Yeung WY, Martin C, Fontoura P, Day JW; SUNFISH Study Group. Mercuri E, et al. Lancet Neurol. 2022 Jan;21(1):42-52. doi: 10.1016/S1474-4422(21)00367-7. Lancet Neurol. 2022. PMID: 34942136
Newborn screening and gene therapy in SMA: Challenges related to vaccinations.
Kotulska K, Jozwiak S, Jedrzejowska M, Gos M, Ogrodnik M, Wysocki J, Czajka H, Kuchar E. Kotulska K, et al. Among authors: jedrzejowska m. Front Neurol. 2022 Nov 23;13:890860. doi: 10.3389/fneur.2022.890860. eCollection 2022. Front Neurol. 2022. PMID: 36504644 Free PMC article. Review.
Spinal muscular atrophy - new therapies, new challenges.
Jędrzejowska M, Kostera-Pruszczyk A. Jędrzejowska M, et al. Neurol Neurochir Pol. 2020;54(1):8-13. doi: 10.5603/PJNNS.a2019.0068. Epub 2020 Jan 10. Neurol Neurochir Pol. 2020. PMID: 31922583
Floppy infant syndrome as a first manifestation of LMNA-related congenital muscular dystrophy.
Jędrzejowska M, Potulska-Chromik A, Gos M, Gambin T, Dębek E, Rosiak E, Stępień A, Szymańczak R, Wojtaś B, Gielniewski B, Ciara E, Sobczyńska A, Chrzanowska K, Kostera-Pruszczyk A, Madej-Pilarczyk A. Jędrzejowska M, et al. Eur J Paediatr Neurol. 2021 May;32:115-121. doi: 10.1016/j.ejpn.2021.04.005. Epub 2021 Apr 20. Eur J Paediatr Neurol. 2021. PMID: 33940562
The phenotype-driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes.
Jezela-Stanek A, Ciara E, Jurkiewicz D, Kucharczyk M, Jędrzejowska M, Chrzanowska KH, Krajewska-Walasek M, Żemojtel T. Jezela-Stanek A, et al. Among authors: jedrzejowska m. Mol Genet Genomic Med. 2020 Sep;8(9):e1263. doi: 10.1002/mgg3.1263. Epub 2020 Apr 26. Mol Genet Genomic Med. 2020. PMID: 32337850 Free PMC article.
36 results