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414 results

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Page 1
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: gowda v. Neurology. 2023 Oct 10;101(15):e1495-e1508. doi: 10.1212/WNL.0000000000207723. Epub 2023 Aug 29. Neurology. 2023. PMID: 37643885 Free PMC article.
Congenital myopathies: Natural history of a large pediatric cohort.
Colombo I, Scoto M, Manzur AY, Robb SA, Maggi L, Gowda V, Cullup T, Yau M, Phadke R, Sewry C, Jungbluth H, Muntoni F. Colombo I, et al. Among authors: gowda v. Neurology. 2015 Jan 6;84(1):28-35. doi: 10.1212/WNL.0000000000001110. Epub 2014 Nov 26. Neurology. 2015. PMID: 25428687 Free PMC article.
Unusual Presentations of Dystrophinopathies in Childhood.
Allen NM, Ewer A, Nakou V, Konstantoulaki E, Wraige E, Gowda V, Jungbluth H. Allen NM, et al. Among authors: gowda v. Pediatrics. 2018 Apr;141(Suppl 5):S510-S514. doi: 10.1542/peds.2017-2391. Pediatrics. 2018. PMID: 29610182
Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study.
Trucco F, Ridout D, Scoto M, Coratti G, Main ML, Muni Lofra R, Mayhew AG, Montes J, Pane M, Sansone V, Albamonte E, D'Amico A, Bertini E, Messina S, Bruno C, Parasuraman D, Childs AM, Gowda V, Willis T, Ong M, Marini-Bettolo C, De Vivo DC, Darras BT, Day J, Kichula EA, Mayer OH, Navas Nazario AA, Finkel RS, Mercuri E, Muntoni F; International SMA Consortium (iSMAc). Trucco F, et al. Among authors: gowda v. Neurology. 2021 Jan 26;96(4):e587-e599. doi: 10.1212/WNL.0000000000011051. Epub 2020 Oct 16. Neurology. 2021. PMID: 33067401 Free PMC article.
Systemic Inflammation Is Associated With Neurologic Involvement in Pediatric Inflammatory Multisystem Syndrome Associated With SARS-CoV-2.
Sa M, Mirza L, Carter M, Carlton Jones L, Gowda V, Handforth J, Hedderly T, Kenny J, Lascelles K, Lin JP, Lumsden D, McDougall M, Miller O, Rossor T, Shivamurthy V, Siddiqui A, Singh R, Tang S, White M, Byrne S, Lim M; Evelina PIMS-TS Study Group. Sa M, et al. Among authors: gowda v. Neurol Neuroimmunol Neuroinflamm. 2021 Apr 13;8(4):e999. doi: 10.1212/NXI.0000000000000999. Print 2021 Jul. Neurol Neuroimmunol Neuroinflamm. 2021. PMID: 33850037 Free PMC article.
Growth pattern trajectories in boys with Duchenne muscular dystrophy.
Stimpson G, Raquq S, Chesshyre M, Fewtrell M, Ridout D, Sarkozy A, Manzur A, Ayyar Gupta V, De Amicis R, Muntoni F, Baranello G; NorthStar Network. Stimpson G, et al. Orphanet J Rare Dis. 2022 Jan 24;17(1):20. doi: 10.1186/s13023-021-02158-9. Orphanet J Rare Dis. 2022. PMID: 35073949 Free PMC article.
Efficacy and Safety of Vamorolone in Duchenne Muscular Dystrophy: A 30-Month Nonrandomized Controlled Open-Label Extension Trial.
Mah JK, Clemens PR, Guglieri M, Smith EC, Finkel RS, Tulinius M, Nevo Y, Ryan MM, Webster R, Castro D, Kuntz NL, McDonald CM, Damsker JM, Schwartz BD, Mengle-Gaw LJ, Jackowski S, Stimpson G, Ridout DA, Ayyar-Gupta V, Baranello G, Manzur AY, Muntoni F, Gordish-Dressman H, Leinonen M, Ward LM, Hoffman EP, Dang UJ; NorthStar UK Network and CINRG DNHS Investigators. Mah JK, et al. JAMA Netw Open. 2022 Jan 4;5(1):e2144178. doi: 10.1001/jamanetworkopen.2021.44178. JAMA Netw Open. 2022. PMID: 35076703 Free PMC article. Clinical Trial.
New treatments in spinal muscular atrophy.
Gowda VL, Fernandez-Garcia MA, Jungbluth H, Wraige E. Gowda VL, et al. 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.
Gene therapy for spinal muscular atrophy.
Gowda VL, Jungbluth H, Wraige E. Gowda VL, et al. Arch Dis Child Educ Pract Ed. 2023 Oct;108(5):347-350. doi: 10.1136/archdischild-2023-325359. Epub 2023 Jul 9. Arch Dis Child Educ Pract Ed. 2023. PMID: 37423714 No abstract available.
414 results