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66 results

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Page 1
Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial.
Schoser B, Roberts M, Byrne BJ, Sitaraman S, Jiang H, Laforêt P, Toscano A, Castelli J, Díaz-Manera J, Goldman M, van der Ploeg AT, Bratkovic D, Kuchipudi S, Mozaffar T, Kishnani PS; PROPEL Study Group. Schoser B, et al. Lancet Neurol. 2021 Dec;20(12):1027-1037. doi: 10.1016/S1474-4422(21)00331-8. Lancet Neurol. 2021. PMID: 34800400 Clinical Trial.
Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource.
Koch RL, Soler-Alfonso C, Kiely BT, Asai A, Smith AL, Bali DS, Kang PB, Landstrom AP, Akman HO, Burrow TA, Orthmann-Murphy JL, Goldman DS, Pendyal S, El-Gharbawy AH, Austin SL, Case LE, Schiffmann R, Hirano M, Kishnani PS. Koch RL, et al. Among authors: burrow ta. Mol Genet Metab. 2023 Mar;138(3):107525. doi: 10.1016/j.ymgme.2023.107525. Epub 2023 Jan 25. Mol Genet Metab. 2023. PMID: 36796138 Review.
104-week efficacy and safety of cipaglucosidase alfa plus miglustat in adults with late-onset Pompe disease: a phase III open-label extension study (ATB200-07).
Schoser B, Kishnani PS, Bratkovic D, Byrne BJ, Claeys KG, Díaz-Manera J, Laforêt P, Roberts M, Toscano A, van der Ploeg AT, Castelli J, Goldman M, Holdbrook F, Sitaraman Das S, Wasfi Y, Mozaffar T; ATB200-07 Study Group. Schoser B, et al. J Neurol. 2024 May;271(5):2810-2823. doi: 10.1007/s00415-024-12236-0. Epub 2024 Feb 28. J Neurol. 2024. PMID: 38418563 Free PMC article. Clinical Trial.
CNTNAP1-Related Congenital Hypomyelinating Neuropathy.
Lesmana H, Vawter Lee M, Hosseini SA, Burrow TA, Hallinan B, Bove K, Schapiro M, Hopkin RJ. Lesmana H, et al. Among authors: burrow ta. Pediatr Neurol. 2019 Apr;93:43-49. doi: 10.1016/j.pediatrneurol.2018.12.014. Epub 2018 Dec 28. Pediatr Neurol. 2019. PMID: 30686628 Review.
Switching treatment to cipaglucosidase alfa plus miglustat positively affects patient-reported outcome measures in patients with late-onset Pompe disease.
Kishnani PS, Byrne BJ, Claeys KG, Díaz-Manera J, Dimachkie MM, Kushlaf H, Mozaffar T, Roberts M, Schoser B, Hummel N, Kopiec A, Holdbrook F, Shohet S, Toscano A; PROPEL Study Group. Kishnani PS, et al. J Patient Rep Outcomes. 2024 Nov 13;8(1):132. doi: 10.1186/s41687-024-00805-w. J Patient Rep Outcomes. 2024. PMID: 39535661 Free PMC article. Clinical Trial.
Mitochondrial Ultrastructural Defects in NDUFS3-Related Disorder.
Samanta D, Veerapandiyan A, Burrow TA, Gokden M. Samanta D, et al. Among authors: burrow ta. J Pediatr Neurosci. 2021 Oct-Dec;16(4):299-302. doi: 10.4103/jpn.JPN_182_20. Epub 2021 Jul 19. J Pediatr Neurosci. 2021. PMID: 36531773 Free PMC article.
Variants in BSN, encoding the presynaptic protein Bassoon, result in a distinct neurodevelopmental disorder with a broad phenotypic range.
Guzman SG, Ruggiero SM, Ganesan S, Ellis CA, Harrison AG, Sullivan KR, Stark Z, Brown NJ, Kana SL, Tuttle A, Tenorio J, Lapunzina P, Nevado J, McDonald MT, Jensen C, Wheeler PG, Stange L, Morrison J, Keren B, Heide S, Keating MW, Butler KM, Lyons MA, Jain S, Yeganeh M, Thompson ML, Schroeder M, Nguyen H, Granadillo J, Johnston KM, Murali CN, Bosanko K, Burrow TA; CHOP Birth Defects Biorepository; Penn Medicine BioBank; Morgan S, Watson DJ, Hakonarson H, Helbig I. Guzman SG, et al. Among authors: burrow ta. Am J Hum Genet. 2025 Jun 5;112(6):1415-1429. doi: 10.1016/j.ajhg.2025.04.011. Epub 2025 May 19. Am J Hum Genet. 2025. PMID: 40393460
66 results