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Year Number of Results
2015 1
2017 2
2018 3
2019 1
2020 7
2021 7
2022 5
2023 9
2024 1

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30 results

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Page 1
New treatments in spinal muscular atrophy.
Gowda VL, Fernandez-Garcia MA, Jungbluth H, Wraige E. Gowda VL, et al. Among authors: fernandez garcia ma. Arch Dis Child. 2023 Jul;108(7):511-517. doi: 10.1136/archdischild-2021-323605. Epub 2022 Oct 31. Arch Dis Child. 2023. PMID: 36316089 Review.
The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD).
Allen NM, O'Rahelly M, Eymard B, Chouchane M, Hahn A, Kearns G, Kim DS, Byun SY, Nguyen CE, Schara-Schmidt U, Kölbel H, Marina AD, Schneider-Gold C, Roefke K, Thieme A, Van den Bergh P, Avalos G, Álvarez-Velasco R, Natera-de Benito D, Cheng MHM, Chan WK, Wan HS, Thomas MA, Borch L, Lauzon J, Kornblum C, Reimann J, Mueller A, Kuntzer T, Norwood F, Ramdas S, Jacobson LW, Jie X, Fernandez-Garcia MA, Wraige E, Lim M, Lin JP, Claeys KG, Aktas S, Oskoui M, Hacohen Y, Masud A, Leite MI, Palace J, De Vivo D, Vincent A, Jungbluth H. Allen NM, et al. Among authors: fernandez garcia ma. Brain. 2023 Oct 3;146(10):4233-4246. doi: 10.1093/brain/awad153. Brain. 2023. PMID: 37186601 Free PMC article.
Long-term Natural History of Pediatric Dominant and Recessive RYR1-Related Myopathy.
Sarkozy A, Sa M, Ridout D, Fernandez-Garcia MA, Distefano MG, Main M, Sheehan J, Manzur AY, Munot P, Robb S, Wraige E, Quinlivan R, Scoto M, Baranello G, Gowda V, Mein R, Phadke R, Jungbluth H, Muntoni F. Sarkozy A, et al. Among authors: fernandez garcia ma. Neurology. 2023 Oct 10;101(15):e1495-e1508. doi: 10.1212/WNL.0000000000207723. Epub 2023 Aug 29. Neurology. 2023. PMID: 37643885
Genetic neuropathies presenting with CIDP-like features in childhood.
Fernandez-Garcia MA, Stettner GM, Kinali M, Clarke A, Fallon P, Knirsch U, Wraige E, Jungbluth H. Fernandez-Garcia MA, et al. Neuromuscul Disord. 2021 Feb;31(2):113-122. doi: 10.1016/j.nmd.2020.11.013. Epub 2020 Nov 30. Neuromuscul Disord. 2021. PMID: 33386210 Review.
Neuromuscular symptoms in patients with RYR1-related malignant hyperthermia and rhabdomyolysis.
van den Bersselaar LR, Jungbluth H, Kruijt N, Kamsteeg EJ, Fernandez-Garcia MA, Treves S, Riazi S, Malagon I, van Eijk LT, van Alfen N, van Engelen BGM, Scheffer GJ, Snoeck MMJ, Voermans NC. van den Bersselaar LR, et al. Among authors: fernandez garcia ma. Brain Commun. 2022 Nov 10;4(6):fcac292. doi: 10.1093/braincomms/fcac292. eCollection 2022. Brain Commun. 2022. PMID: 36751502 Free PMC article.
Muscle Ultrasound Abnormalities in Individuals with RYR1-Related Malignant Hyperthermia Susceptibility.
van den Bersselaar LR, van Alfen N, Kruijt N, Kamsteeg EJ, Fernandez-Garcia MA, Treves S, Riazi S, Yang CY, Malagon I, van Eijk LT, van Engelen BGM, Scheffer GJ, Jungbluth H, Snoeck MMJ, Voermans NC. van den Bersselaar LR, et al. Among authors: fernandez garcia ma. J Neuromuscul Dis. 2023;10(4):541-554. doi: 10.3233/JND-230018. J Neuromuscul Dis. 2023. PMID: 37154182 Free PMC article.
Growth hormone remodels the 3D-structure of the mitochondria of inflammatory macrophages and promotes metabolic reprogramming.
Soler Palacios B, Villares R, Lucas P, Rodríguez-Frade JM, Cayuela A, Piccirillo JG, Lombardía M, Delgado Gestoso D, Fernández-García M, Risco C, Barbas C, Corrales F, Sorzano COS, Martínez-Martín N, Conesa JJ, Iborra FJ, Mellado M. Soler Palacios B, et al. Among authors: fernandez garcia m. Front Immunol. 2023 Jul 5;14:1200259. doi: 10.3389/fimmu.2023.1200259. eCollection 2023. Front Immunol. 2023. PMID: 37475858 Free PMC article.
Efficacy and safety of onasemnogene abeparvovec in children with spinal muscular atrophy type 1: real-world evidence from 6 infusion centres in the United Kingdom.
Gowda V, Atherton M, Murugan A, Servais L, Sheehan J, Standing E, Manzur A, Scoto M, Baranello G, Munot P, McCullagh G, Willis T, Tirupathi S, Horrocks I, Dhawan A, Eyre M, Vanegas M, Fernandez-Garcia MA, Wolfe A, Pinches L, Illingworth M, Main M, Abbott L, Smith H, Milton E, D'Urso S, Vijayakumar K, Marco SS, Warner S, Reading E, Douglas I, Muntoni F, Ong M, Majumdar A, Hughes I, Jungbluth H, Wraige E. Gowda V, et al. Among authors: fernandez garcia ma. Lancet Reg Health Eur. 2023 Dec 11;37:100817. doi: 10.1016/j.lanepe.2023.100817. eCollection 2024 Feb. Lancet Reg Health Eur. 2023. PMID: 38169987 Free PMC article.
30 results