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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: jungbluth h. 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.
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.
Zhou H, Jungbluth H, Sewry CA, Feng L, Bertini E, Bushby K, Straub V, Roper H, Rose MR, Brockington M, Kinali M, Manzur A, Robb S, Appleton R, Messina S, D'Amico A, Quinlivan R, Swash M, Müller CR, Brown S, Treves S, Muntoni F. Zhou H, et al. Among authors: jungbluth h. Brain. 2007 Aug;130(Pt 8):2024-36. doi: 10.1093/brain/awm096. Epub 2007 May 4. Brain. 2007. PMID: 17483490 Free article.
Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations.
Geranmayeh F, Clement E, Feng LH, Sewry C, Pagan J, Mein R, Abbs S, Brueton L, Childs AM, Jungbluth H, De Goede CG, Lynch B, Lin JP, Chow G, Sousa Cd, O'Mahony O, Majumdar A, Straub V, Bushby K, Muntoni F. Geranmayeh F, et al. Among authors: jungbluth h. Neuromuscul Disord. 2010 Apr;20(4):241-50. doi: 10.1016/j.nmd.2010.02.001. Epub 2010 Mar 6. Neuromuscul Disord. 2010. PMID: 20207543
Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies.
Robb SA, Sewry CA, Dowling JJ, Feng L, Cullup T, Lillis S, Abbs S, Lees MM, Laporte J, Manzur AY, Knight RK, Mills KR, Pike MG, Kress W, Beeson D, Jungbluth H, Pitt MC, Muntoni F. Robb SA, et al. Among authors: jungbluth h. Neuromuscul Disord. 2011 Jun;21(6):379-86. doi: 10.1016/j.nmd.2011.02.012. Epub 2011 Mar 25. Neuromuscul Disord. 2011. PMID: 21440438
Clinical utility gene card for: Central core disease.
Lillis S, Abbs S, Mueller CR, Muntoni F, Jungbluth H. Lillis S, et al. Among authors: jungbluth h. Eur J Hum Genet. 2012 Feb;20(2). doi: 10.1038/ejhg.2011.179. Epub 2011 Oct 12. Eur J Hum Genet. 2012. PMID: 21989361 Free PMC article. No abstract available.
299 results